{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T07:53:34Z","timestamp":1791532414317,"version":"4.3.4"},"reference-count":142,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2018,6,12]],"date-time":"2018-06-12T00:00:00Z","timestamp":1528761600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2018,6,12]],"date-time":"2018-06-12T00:00:00Z","timestamp":1528761600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci Rep"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Skin trait variation impacts quality-of-life, especially for females from the viewpoint of beauty. To investigate genetic variation related to these traits, we conducted a GWAS of various skin phenotypes in 11,311 Japanese women and identified associations for age-spots, freckles, double eyelids, straight\/curly hair, eyebrow thickness, hairiness, and sweating. <jats:italic>In silico<\/jats:italic> annotation with RoadMap Epigenomics epigenetic state maps and colocalization analysis of GWAS and GTEx Project eQTL signals provided information about tissue specificity, candidate causal variants, and functional target genes. Novel signals for skin-spot traits neighboured <jats:italic>AKAP1<\/jats:italic>\/<jats:italic>MSI<\/jats:italic>2 (rs17833789; <jats:italic>P<\/jats:italic>\u2009=\u20092.2\u2009\u00d7\u200910<jats:sup>\u22129<\/jats:sup>)<jats:italic>, BNC<\/jats:italic>2 (rs10810635; <jats:italic>P<\/jats:italic>\u2009=\u20092.1\u2009\u00d7\u200910<jats:sup>\u221222<\/jats:sup>)<jats:italic>, HSPA1<\/jats:italic>2<jats:italic>A<\/jats:italic> (rs12259842; <jats:italic>P<\/jats:italic>\u2009=\u20097.1\u2009\u00d7\u200910<jats:sup>\u221211<\/jats:sup>), <jats:italic>PPARGC1B<\/jats:italic> (rs251468; <jats:italic>P<\/jats:italic>\u2009=\u20091.3\u2009\u00d7\u200910<jats:sup>\u221221<\/jats:sup>), and <jats:italic>RAB11FIP<\/jats:italic>2 (rs10444039; <jats:italic>P<\/jats:italic>\u2009=\u20095.6\u2009\u00d7\u200910<jats:sup>\u221221<\/jats:sup>). <jats:italic>HSPA1<\/jats:italic>2<jats:italic>A<\/jats:italic> SNPs were the only protein-coding gene eQTLs identified across skin-spot loci. Double edged eyelid analysis identified that a signal around <jats:italic>EMX<\/jats:italic>2 (rs12570134; <jats:italic>P<\/jats:italic>\u2009=\u20098.2\u2009\u00d7\u200910<jats:sup>\u221215<\/jats:sup>) was also associated with expression of <jats:italic>EMX<\/jats:italic>2 and the antisense-RNA gene <jats:italic>EMX<\/jats:italic>2<jats:italic>OS<\/jats:italic> in brain putamen basal ganglia tissue. A known hair morphology signal in <jats:italic>EDAR<\/jats:italic> was associated with both eyebrow thickness (rs3827760; <jats:italic>P<\/jats:italic>\u2009=\u20091.7\u2009\u00d7\u200910<jats:sup>\u22129<\/jats:sup>) and straight\/curly hair (rs260643; <jats:italic>P<\/jats:italic>\u2009=\u20091.6\u2009\u00d7\u200910<jats:sup>\u2212103<\/jats:sup>). Excessive hairiness signals\u2019 top SNPs were also eQTLs for <jats:italic>TBX15<\/jats:italic> (rs984225; <jats:italic>P<\/jats:italic>\u2009=\u20091.6\u2009\u00d7\u200910<jats:sup>\u22128<\/jats:sup>), <jats:italic>BCL<\/jats:italic>2 (rs7226979; <jats:italic>P<\/jats:italic>\u2009=\u20097.3\u2009\u00d7\u200910<jats:sup>\u221211<\/jats:sup>), and <jats:italic>GCC<\/jats:italic>2 and <jats:italic>LIMS1<\/jats:italic> (rs6542772; <jats:italic>P<\/jats:italic>\u2009=\u20092.2\u2009\u00d7\u200910<jats:sup>\u22129<\/jats:sup>). For excessive sweating, top variants in two signals in chr2:28.82-29.05\u2009Mb (rs56089836; <jats:italic>P<\/jats:italic>\u2009=\u20091.7\u2009\u00d7\u200910<jats:sup>\u221211<\/jats:sup>) were eQTLs for either <jats:italic>PPP1CB<\/jats:italic> or <jats:italic>PLB1<\/jats:italic>, while a top chr16:48.26\u201348.45\u2009Mb locus SNP was a known <jats:italic>ABCC11<\/jats:italic> missense variant (rs6500380; <jats:italic>P<\/jats:italic>\u2009=\u20096.8\u2009\u00d7\u200910<jats:sup>\u221210<\/jats:sup>). In total, we identified twelve loci containing sixteen association signals, of which fifteen were novel. These findings will help dermatologic researchers better understand the genetic underpinnings of skin-related phenotypic variation in human populations.<\/jats:p>","DOI":"10.1038\/s41598-018-27145-2","type":"journal-article","created":{"date-parts":[[2018,6,6]],"date-time":"2018-06-06T11:41:36Z","timestamp":1528285296000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":81,"title":["Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations"],"prefix":"10.1038","volume":"8","author":[{"given":"Chihiro","family":"Endo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3377-6692","authenticated-orcid":false,"given":"Todd A.","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryoko","family":"Morino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuyuki","family":"Nakazono","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shigeo","family":"Kamitsuji","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masanori","family":"Akita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maiko","family":"Kawajiri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatsuya","family":"Yamasaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Azusa","family":"Kami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuria","family":"Hoshi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asami","family":"Tada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenichi","family":"Ishikawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maaya","family":"Hine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miki","family":"Kobayashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nami","family":"Kurume","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuichiro","family":"Tsunemi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoyuki","family":"Kamatani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makoto","family":"Kawashima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2018,6,12]]},"reference":[{"key":"27145_CR1","first-page":"60","volume":"19","author":"S Nishiyama","year":"1991","unstructured":"Nishiyama, S. & Takahashi, M. Revaluation of skin feature for 10s and 20s generation and development of cosmetic products suitable for them. Fragrance Journal 19, 60\u201366 (1991).","journal-title":"Fragrance Journal"},{"key":"27145_CR2","doi-asserted-by":"publisher","first-page":"347","DOI":"10.5650\/oleoscience.7.347","volume":"7","author":"M Naganuma","year":"2007","unstructured":"Naganuma, M. The Damage on the Skin Induced by UV Exposure in Sunlight. Oleoscience 7, 347\u2013355 (2007).","journal-title":"Oleoscience"},{"key":"27145_CR3","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1007\/s00439-008-0537-1","volume":"124","author":"A Fujimoto","year":"2008","unstructured":"Fujimoto, A. et al. A replication study confirmed the EDAR gene to be a major contributor to population differentiation regarding head hair thickness in Asia. Hum Genet 124, 179\u2013185 (2008).","journal-title":"Hum Genet"},{"key":"27145_CR4","doi-asserted-by":"publisher","first-page":"835","DOI":"10.1093\/hmg\/ddm355","volume":"17","author":"A Fujimoto","year":"2008","unstructured":"Fujimoto, A. et al. A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness. Hum Mol Genet 17, 835\u2013843 (2008).","journal-title":"Hum Mol Genet"},{"key":"27145_CR5","doi-asserted-by":"publisher","first-page":"402","DOI":"10.1002\/ajmg.a.20044","volume":"118A","author":"T Suzuki","year":"2003","unstructured":"Suzuki, T., Miyamura, Y. & Tomita, Y. High frequency of the Ala481Thr mutation of the P gene in the Japanese population. Am J Med Genet A 118A, 402\u2013403 (2003).","journal-title":"Am J Med Genet A"},{"key":"27145_CR6","doi-asserted-by":"publisher","first-page":"690","DOI":"10.1007\/s10038-007-0167-9","volume":"52","author":"I Yuasa","year":"2007","unstructured":"Yuasa, I. et al. OCA2 481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations. J Hum Genet 52, 690\u2013693 (2007).","journal-title":"J Hum Genet"},{"key":"27145_CR7","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1016\/j.jdermsci.2012.10.016","volume":"69","author":"Y Abe","year":"2013","unstructured":"Abe, Y., Tamiya, G., Nakamura, T., Hozumi, Y. & Suzuki, T. Association of melanogenesis genes with skin color variation among Japanese females. J Dermatol Sci 69, 167\u2013172 (2013).","journal-title":"J Dermatol Sci"},{"key":"27145_CR8","doi-asserted-by":"publisher","first-page":"e1000074","DOI":"10.1371\/journal.pgen.1000074","volume":"4","author":"J Han","year":"2008","unstructured":"Han, J. et al. A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. PLoS Genet 4, e1000074 (2008).","journal-title":"PLoS Genet"},{"key":"27145_CR9","doi-asserted-by":"publisher","first-page":"823","DOI":"10.1007\/s00439-015-1559-0","volume":"134","author":"F Liu","year":"2015","unstructured":"Liu, F. et al. Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up. Hum Genet 134, 823\u2013835 (2015).","journal-title":"Hum Genet"},{"key":"27145_CR10","doi-asserted-by":"publisher","first-page":"5750","DOI":"10.1093\/hmg\/ddu289","volume":"23","author":"M Visser","year":"2014","unstructured":"Visser, M., Palstra, R. J. & Kayser, M. Human skin color is influenced by an intergenic DNA polymorphism regulating transcription of the nearby BNC2 pigmentation gene. Hum Mol Genet 23, 5750\u20135762 (2014).","journal-title":"Hum Mol Genet"},{"key":"27145_CR11","doi-asserted-by":"publisher","first-page":"e1000993","DOI":"10.1371\/journal.pgen.1000993","volume":"6","author":"N Eriksson","year":"2010","unstructured":"Eriksson, N. et al. Web-based, participant-driven studies yield novel genetic associations for common traits. PLoS Genet 6, e1000993 (2010).","journal-title":"PLoS Genet"},{"key":"27145_CR12","doi-asserted-by":"publisher","first-page":"1735","DOI":"10.1038\/jid.2015.62","volume":"135","author":"LC Jacobs","year":"2015","unstructured":"Jacobs, L. C. et al. A Genome-Wide Association Study Identifies the Skin Color Genes IRF4, MC1R, ASIP, and BNC2 Influencing Facial Pigmented Spots. J Invest Dermatol 135, 1735\u20131742 (2015).","journal-title":"J Invest Dermatol"},{"key":"27145_CR13","doi-asserted-by":"publisher","first-page":"709","DOI":"10.1038\/ng.3570","volume":"48","author":"JK Pickrell","year":"2016","unstructured":"Pickrell, J. K. et al. Detection and interpretation of shared genetic influences on 42 human traits. Nat Genet 48, 709\u2013717 (2016).","journal-title":"Nat Genet"},{"key":"27145_CR14","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-014-0091-5","volume":"6","author":"YR Li","year":"2014","unstructured":"Li, Y. R. & Keating, B. J. Trans-ethnic genome-wide association studies: advantages and challenges of mapping in diverse populations. Genome Med 6, 91 (2014).","journal-title":"Genome Med"},{"key":"27145_CR15","doi-asserted-by":"publisher","first-page":"6944","DOI":"10.1093\/hmg\/ddu401","volume":"23","author":"MF Keller","year":"2014","unstructured":"Keller, M. F. et al. Trans-ethnic meta-analysis of white blood cell phenotypes. Hum Mol Genet 23, 6944\u20136960 (2014).","journal-title":"Hum Mol Genet"},{"key":"27145_CR16","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1186\/s13075-016-1163-2","volume":"18","author":"V Golder","year":"2016","unstructured":"Golder, V. et al. Frequency and predictors of the lupus low disease activity state in a multi-national and multi-ethnic cohort. Arthritis Res Ther 18, 260 (2016).","journal-title":"Arthritis Res Ther"},{"key":"27145_CR17","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-18241-w","volume":"8","author":"SS Khor","year":"2018","unstructured":"Khor, S. S. et al. Genome-wide association study of self-reported food reactions in Japanese identifies shrimp and peach specific loci in the HLA-DR\/DQ gene region. Sci Rep 8, 1069 (2018).","journal-title":"Sci Rep"},{"key":"27145_CR18","doi-asserted-by":"publisher","first-page":"3099","DOI":"10.1093\/bioinformatics\/btv348","volume":"31","author":"D Lee","year":"2015","unstructured":"Lee, D. et al. DISTMIX: direct imputation of summary statistics for unmeasured SNPs from mixed ethnicity cohorts. Bioinformatics 31, 3099\u20133104 (2015).","journal-title":"Bioinformatics"},{"key":"27145_CR19","doi-asserted-by":"publisher","first-page":"1443","DOI":"10.1038\/ng.3679","volume":"48","author":"PR Loh","year":"2016","unstructured":"Loh, P. R. et al. Reference-based phasing using the Haplotype Reference Consortium panel. Nat Genet 48, 1443\u20131448 (2016).","journal-title":"Nat Genet"},{"key":"27145_CR20","doi-asserted-by":"publisher","first-page":"811","DOI":"10.1038\/ng.3571","volume":"48","author":"PR Loh","year":"2016","unstructured":"Loh, P. R., Palamara, P. F. & Price, A. L. Fast and accurate long-range phasing in a UK Biobank cohort. Nat Genet 48, 811\u2013816 (2016).","journal-title":"Nat Genet"},{"key":"27145_CR21","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1016\/j.ajhg.2015.11.020","volume":"98","author":"BL Browning","year":"2016","unstructured":"Browning, B. L. & Browning, S. R. Genotype Imputation with Millions of Reference Samples. Am J Hum Genet 98, 116\u2013126 (2016).","journal-title":"Am J Hum Genet"},{"key":"27145_CR22","doi-asserted-by":"publisher","first-page":"1213","DOI":"10.1016\/j.cub.2016.03.008","volume":"26","author":"F Liu","year":"2016","unstructured":"Liu, F. et al. The MC1R Gene and Youthful Looks. Curr Biol 26, 1213\u20131220 (2016).","journal-title":"Curr Biol"},{"key":"27145_CR23","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1038\/nature24277","volume":"550","author":"C GTEx","year":"2017","unstructured":"GTEx, C. et al. Genetic effects on gene expression across human tissues. Nature 550, 204\u2013213 (2017).","journal-title":"Nature"},{"key":"27145_CR24","doi-asserted-by":"publisher","first-page":"586","DOI":"10.1016\/j.ajhg.2011.04.014","volume":"88","author":"B Han","year":"2011","unstructured":"Han, B. & Eskin, E. Random-effects model aimed at discovering associations in meta-analysis of genome-wide association studies. Am J Hum Genet 88, 586\u2013598 (2011).","journal-title":"Am J Hum Genet"},{"key":"27145_CR25","doi-asserted-by":"publisher","first-page":"i67","DOI":"10.1093\/bioinformatics\/btx227","volume":"33","author":"D Duong","year":"2017","unstructured":"Duong, D. et al. Applying meta-analysis to genotype-tissue expression data from multiple tissues to identify eQTLs and increase the number of eGenes. Bioinformatics 33, i67\u2013i74 (2017).","journal-title":"Bioinformatics"},{"key":"27145_CR26","doi-asserted-by":"publisher","first-page":"e1004383","DOI":"10.1371\/journal.pgen.1004383","volume":"10","author":"C Giambartolomei","year":"2014","unstructured":"Giambartolomei, C. et al. Bayesian test for colocalisation between pairs of genetic association studies using summary statistics. PLoS Genet 10, e1004383 (2014).","journal-title":"PLoS Genet"},{"key":"27145_CR27","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1038\/ng.3538","volume":"48","author":"Z Zhu","year":"2016","unstructured":"Zhu, Z. et al. Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets. Nat Genet 48, 481\u2013487 (2016).","journal-title":"Nat Genet"},{"key":"27145_CR28","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1038\/nbt.3158","volume":"33","author":"X Zhou","year":"2015","unstructured":"Zhou, X. et al. Epigenomic annotation of genetic variants using the Roadmap Epigenome Browser. Nat Biotechnol 33, 345\u2013346 (2015).","journal-title":"Nat Biotechnol"},{"key":"27145_CR29","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1038\/nature14248","volume":"518","author":"A Kundaje","year":"2015","unstructured":"Kundaje, A. et al. Integrative analysis of 111 reference human epigenomes. Nature 518, 317\u2013330 (2015).","journal-title":"Nature"},{"key":"27145_CR30","doi-asserted-by":"publisher","first-page":"D267","DOI":"10.1093\/nar\/gkx1092","volume":"46","author":"J Ch\u00e8neby","year":"2018","unstructured":"Ch\u00e8neby, J., Gheorghe, M., Artufel, M., Mathelier, A. & Ballester, B. ReMap 2018: an updated atlas of regulatory regions from an integrative analysis of DNA-binding ChIP-seq experiments. Nucleic Acids Res 46, D267\u2013D275 (2018).","journal-title":"Nucleic Acids Res"},{"key":"27145_CR31","doi-asserted-by":"publisher","first-page":"e27","DOI":"10.1093\/nar\/gku1280","volume":"43","author":"A Griffon","year":"2015","unstructured":"Griffon, A. et al. Integrative analysis of public ChIP-seq experiments reveals a complex multi-cell regulatory landscape. Nucleic Acids Res 43, e27 (2015).","journal-title":"Nucleic Acids Res"},{"key":"27145_CR32","doi-asserted-by":"crossref","unstructured":"A promoter-level mammalian expression atlas. Nature 507, 462\u2013470 (2014).","DOI":"10.1038\/nature13182"},{"key":"27145_CR33","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-014-0560-6","volume":"16","author":"M Lizio","year":"2015","unstructured":"Lizio, M. et al. Gateways to the FANTOM5 promoter level mammalian expression atlas. Genome Biol 16, 22 (2015).","journal-title":"Genome Biol"},{"key":"27145_CR34","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1016\/j.ydbio.2014.10.016","volume":"397","author":"T Square","year":"2015","unstructured":"Square, T. et al. A gene expression map of the larval Xenopus laevis head reveals developmental changes underlying the evolution of new skeletal elements. Dev Biol 397, 293\u2013304 (2015).","journal-title":"Dev Biol"},{"key":"27145_CR35","doi-asserted-by":"crossref","unstructured":"Askary, A. et al. Genome-wide analysis of facial skeletal regionalization in zebrafish. Development (2017).","DOI":"10.1242\/dev.151712"},{"key":"27145_CR36","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms10815","volume":"7","author":"K Adhikari","year":"2016","unstructured":"Adhikari, K. et al. A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features. Nat Commun 7, 10815 (2016).","journal-title":"Nat Commun"},{"key":"27145_CR37","doi-asserted-by":"publisher","first-page":"1187","DOI":"10.1007\/s00439-013-1324-1","volume":"132","author":"J Tan","year":"2013","unstructured":"Tan, J. et al. The adaptive variant EDARV370A is associated with straight hair in East Asians. Hum Genet 132, 1187\u20131191 (2013).","journal-title":"Hum Genet"},{"key":"27145_CR38","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms8500","volume":"6","author":"K Adhikari","year":"2015","unstructured":"Adhikari, K. et al. A genome-wide association study identifies multiple loci for variation in human ear morphology. Nat Commun 6, 7500 (2015).","journal-title":"Nat Commun"},{"key":"27145_CR39","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms11616","volume":"7","author":"K Adhikari","year":"2016","unstructured":"Adhikari, K. et al. A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation. Nat Commun 7, 11616 (2016).","journal-title":"Nat Commun"},{"key":"27145_CR40","doi-asserted-by":"publisher","first-page":"508","DOI":"10.1038\/jhg.2012.60","volume":"57","author":"JH Park","year":"2012","unstructured":"Park, J. H. et al. Effects of an Asian-specific nonsynonymous EDAR variant on multiple dental traits. J Hum Genet 57, 508\u2013514 (2012).","journal-title":"J Hum Genet"},{"key":"27145_CR41","doi-asserted-by":"publisher","first-page":"E2393","DOI":"10.1002\/humu.22376","volume":"34","author":"X Liu","year":"2013","unstructured":"Liu, X., Jian, X. & Boerwinkle, E. dbNSFPv2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations. Hum Mutat 34, E2393\u2013402 (2013).","journal-title":"Hum Mutat"},{"key":"27145_CR42","doi-asserted-by":"publisher","first-page":"D717","DOI":"10.1093\/nar\/gkv1275","volume":"44","author":"ML Speir","year":"2016","unstructured":"Speir, M. L. et al. The UCSC Genome Browser database: 2016 update. Nucleic Acids Res 44, D717\u201325 (2016).","journal-title":"Nucleic Acids Res"},{"key":"27145_CR43","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1111\/j.1365-2133.1982.tb00898.x","volume":"106","author":"PD Wilson","year":"1982","unstructured":"Wilson, P. D. & Kligman, A. M. Do freckles protect the skin from actinic damage. Br J Dermatol 106, 27\u201332 (1982).","journal-title":"Br J Dermatol"},{"key":"27145_CR44","doi-asserted-by":"publisher","first-page":"733","DOI":"10.1038\/jid.2011.350","volume":"132","author":"A Vierk\u00f6tter","year":"2012","unstructured":"Vierk\u00f6tter, A. et al. Development of lentigines in German and Japanese women correlates with variants in the SLC45A2 gene. J Invest Dermatol 132, 733\u2013736 (2012).","journal-title":"J Invest Dermatol"},{"issue":"Suppl 1","key":"27145_CR45","doi-asserted-by":"publisher","first-page":"S42","DOI":"10.1016\/S0923-1811(01)00118-9","volume":"27","author":"GG Hillebrand","year":"2001","unstructured":"Hillebrand, G. G. et al. Quantitative evaluation of skin condition in an epidemiological survey of females living in northern versus southern Japan. J Dermatol Sci 27(Suppl 1), S42\u201352 (2001).","journal-title":"J Dermatol Sci"},{"key":"27145_CR46","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1111\/j.1600-0749.2007.00364.x","volume":"20","author":"T Motokawa","year":"2007","unstructured":"Motokawa, T., Kato, T., Hashimoto, Y. & Katagiri, T. Effect of Val92Met and Arg163Gln variants of the MC1R gene on freckles and solar lentigines in Japanese. Pigment Cell Res 20, 140\u2013143 (2007).","journal-title":"Pigment Cell Res"},{"key":"27145_CR47","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1016\/j.mod.2016.02.002","volume":"140","author":"A Vanhoutteghem","year":"2016","unstructured":"Vanhoutteghem, A. et al. The importance of basonuclin 2 in adult mice and its relation to basonuclin 1. Mech Dev 140, 53\u201373 (2016).","journal-title":"Mech Dev"},{"key":"27145_CR48","doi-asserted-by":"publisher","first-page":"4298","DOI":"10.1242\/dev.112888","volume":"141","author":"A Vanhoutteghem","year":"2014","unstructured":"Vanhoutteghem, A. et al. The zinc-finger protein basonuclin 2 is required for proper mitotic arrest, prevention of premature meiotic initiation and meiotic progression in mouse male germ cells. Development 141, 4298\u20134310 (2014).","journal-title":"Development"},{"key":"27145_CR49","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1007\/s00439-012-1232-9","volume":"132","author":"LC Jacobs","year":"2013","unstructured":"Jacobs, L. C. et al. Comprehensive candidate gene study highlights UGT1A and BNC2 as new genes determining continuous skin color variation in Europeans. Hum Genet 132, 147\u2013158 (2013).","journal-title":"Hum Genet"},{"key":"27145_CR50","doi-asserted-by":"publisher","first-page":"618","DOI":"10.1111\/j.1755-148X.2011.00887.x","volume":"24","author":"E Flori","year":"2011","unstructured":"Flori, E. et al. 2,4,6-Octatrienoic acid is a novel promoter of melanogenesis and antioxidant defence in normal human melanocytes via PPAR-\u03b3 activation. Pigment Cell Melanoma Res 24, 618\u2013630 (2011).","journal-title":"Pigment Cell Melanoma Res"},{"key":"27145_CR51","doi-asserted-by":"publisher","first-page":"118","DOI":"10.1111\/j.1600-0625.2006.00521.x","volume":"16","author":"JS Lee","year":"2007","unstructured":"Lee, J. S., Choi, Y. M. & Kang, H. Y. PPAR-gamma agonist, ciglitazone, increases pigmentation and migration of human melanocytes. Exp Dermatol 16, 118\u2013123 (2007).","journal-title":"Exp Dermatol"},{"key":"27145_CR52","doi-asserted-by":"publisher","first-page":"627","DOI":"10.1111\/j.1600-0854.2011.01172.x","volume":"12","author":"KA Beaumont","year":"2011","unstructured":"Beaumont, K. A. et al. The recycling endosome protein Rab17 regulates melanocytic filopodia formation and melanosome trafficking. Traffic 12, 627\u2013643 (2011).","journal-title":"Traffic"},{"key":"27145_CR53","doi-asserted-by":"publisher","first-page":"1056","DOI":"10.1038\/jid.2013.432","volume":"134","author":"AK Tarafder","year":"2014","unstructured":"Tarafder, A. K. et al. Rab11b mediates melanin transfer between donor melanocytes and acceptor keratinocytes via coupled exo\/endocytosis. J Invest Dermatol 134, 1056\u20131066 (2014).","journal-title":"J Invest Dermatol"},{"key":"27145_CR54","doi-asserted-by":"publisher","first-page":"292","DOI":"10.1111\/tra.12146","volume":"15","author":"JC Schafer","year":"2014","unstructured":"Schafer, J. C. et al. Rab11-FIP2 interaction with MYO5B regulates movement of Rab11a-containing recycling vesicles. Traffic 15, 292\u2013308 (2014).","journal-title":"Traffic"},{"key":"27145_CR55","doi-asserted-by":"publisher","first-page":"1555","DOI":"10.1128\/MCB.06154-11","volume":"32","author":"S Rodriguez-Cuenca","year":"2012","unstructured":"Rodriguez-Cuenca, S. et al. Peroxisome proliferator-activated receptor \u03b3-dependent regulation of lipolytic nodes and metabolic flexibility. Mol Cell Biol 32, 1555\u20131565 (2012).","journal-title":"Mol Cell Biol"},{"key":"27145_CR56","doi-asserted-by":"publisher","first-page":"1015","DOI":"10.1016\/j.jid.2017.01.012","volume":"137","author":"X Ma","year":"2017","unstructured":"Ma, X. et al. Msi2 Maintains Quiescent State of Hair Follicle Stem Cells by Directly Repressing the Hh Signaling Pathway. J Invest Dermatol 137, 1015\u20131024 (2017).","journal-title":"J Invest Dermatol"},{"key":"27145_CR57","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1016\/j.clindermatol.2012.08.014","volume":"31","author":"D Lang","year":"2013","unstructured":"Lang, D., Mascarenhas, J. B. & Shea, C. R. Melanocytes, melanocyte stem cells, and melanoma stem cells. Clin Dermatol 31, 166\u2013178 (2013).","journal-title":"Clin Dermatol"},{"key":"27145_CR58","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1007\/s12192-016-0676-6","volume":"21","author":"J Radons","year":"2016","unstructured":"Radons, J. The human HSP70 family of chaperones: where do we stand. Cell Stress Chaperones 21, 379\u2013404 (2016).","journal-title":"Cell Stress Chaperones"},{"key":"27145_CR59","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1016\/j.jprot.2013.01.012","volume":"82","author":"M Prunotto","year":"2013","unstructured":"Prunotto, M. et al. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. J Proteomics 82, 193\u2013229 (2013).","journal-title":"J Proteomics"},{"key":"27145_CR60","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1681\/ASN.2008040406","volume":"20","author":"PA Gonzales","year":"2009","unstructured":"Gonzales, P. A. et al. Large-scale proteomics and phosphoproteomics of urinary exosomes. J Am Soc Nephrol 20, 363\u2013379 (2009).","journal-title":"J Am Soc Nephrol"},{"key":"27145_CR61","doi-asserted-by":"publisher","first-page":"1222","DOI":"10.1038\/jid.2011.413","volume":"132","author":"H Ando","year":"2012","unstructured":"Ando, H. et al. Melanosomes are transferred from melanocytes to keratinocytes through the processes of packaging, release, uptake, and dispersion. J Invest Dermatol 132, 1222\u20131229 (2012).","journal-title":"J Invest Dermatol"},{"key":"27145_CR62","doi-asserted-by":"publisher","first-page":"e1001779","DOI":"10.1371\/journal.pmed.1001779","volume":"12","author":"C Sudlow","year":"2015","unstructured":"Sudlow, C. et al. UK biobank: an open access resource for identifying the causes of a wide range of complex diseases of middle and old age. PLoS Med 12, e1001779 (2015).","journal-title":"PLoS Med"},{"key":"27145_CR63","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms10162","volume":"6","author":"O Canela-Xandri","year":"2015","unstructured":"Canela-Xandri, O., Law, A., Gray, A., Woolliams, J. A. & Tenesa, A. A new tool called DISSECT for analysing large genomic data sets using a Big Data approach. Nat Commun 6, 10162 (2015).","journal-title":"Nat Commun"},{"key":"27145_CR64","doi-asserted-by":"publisher","first-page":"e0166755","DOI":"10.1371\/journal.pone.0166755","volume":"11","author":"O Canela-Xandri","year":"2016","unstructured":"Canela-Xandri, O., Rawlik, K., Woolliams, J. A. & Tenesa, A. Improved Genetic Profiling of Anthropometric Traits Using a Big Data Approach. PLoS One 11, e0166755 (2016).","journal-title":"PLoS One"},{"key":"27145_CR65","doi-asserted-by":"crossref","unstructured":"Canela-Xandri, O., Rawlik, K. & Tenesa, A. An atlas of genetic associations in UK Biobank. bioRxiv (2017).","DOI":"10.1101\/176834"},{"key":"27145_CR66","unstructured":"Patel, B. C. K., Gupta, R. & Joos, Z. P. Medscape Eyelid Anatomy. http:\/\/reference.medscape.com\/article\/834932-overview (April 25)."},{"key":"27145_CR67","unstructured":"Chen, W. P. Asian Blepharoplasty and the Eyelid Crease E-Book (2015)."},{"key":"27145_CR68","first-page":"1","volume":"25","author":"K Tochihara","year":"1979","unstructured":"Tochihara, K., Saito, K., Mizuguchi, A. & Ikeda, K. Studies on the Relation between Properly Dressed Clothes and Morphological Factors of Face (I). Journal of the Nagoya Women\u2019s College 25, 1\u201312 (1979).","journal-title":"Journal of the Nagoya Women\u2019s College"},{"key":"27145_CR69","doi-asserted-by":"publisher","first-page":"1232","DOI":"10.1001\/archopht.1984.01040031002036","volume":"102","author":"MT Doxanas","year":"1984","unstructured":"Doxanas, M. T. & Anderson, R. L. Oriental eyelids. An anatomic study. Arch Ophthalmol 102, 1232\u20131235 (1984).","journal-title":"Arch Ophthalmol"},{"key":"27145_CR70","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1055\/s-0035-1556847","volume":"29","author":"A Fakhro","year":"2015","unstructured":"Fakhro, A., Yim, H. W., Kim, Y. K. & Nguyen, A. H. The Evolution of Looks and Expectations of Asian Eyelid and Eye Appearance. Semin Plast Surg 29, 135\u2013144 (2015).","journal-title":"Semin Plast Surg"},{"key":"27145_CR71","doi-asserted-by":"publisher","first-page":"1736","DOI":"10.1111\/j.1524-4725.2009.01285.x","volume":"35","author":"M Cho","year":"2009","unstructured":"Cho, M. & Glavas, I. P. Anatomic properties of the upper eyelid in Asian Americans. Dermatol Surg 35, 1736\u20131740 (2009).","journal-title":"Dermatol Surg"},{"key":"27145_CR72","doi-asserted-by":"publisher","first-page":"336","DOI":"10.1097\/SAP.0b013e31818b42f7","volume":"63","author":"H Kakizaki","year":"2009","unstructured":"Kakizaki, H., Malhotra, R. & Selva, D. Upper eyelid anatomy: an update. Ann Plast Surg 63, 336\u2013343 (2009).","journal-title":"Ann Plast Surg"},{"key":"27145_CR73","doi-asserted-by":"publisher","first-page":"e8658","DOI":"10.1371\/journal.pone.0008658","volume":"5","author":"G Spigoni","year":"2010","unstructured":"Spigoni, G., Gedressi, C. & Mallamaci, A. Regulation of Emx2 expression by antisense transcripts in murine cortico-cerebral precursors. PLoS One 5, e8658 (2010).","journal-title":"PLoS One"},{"key":"27145_CR74","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1016\/S0888-7543(02)00023-X","volume":"81","author":"FC Noonan","year":"2003","unstructured":"Noonan, F. C., Goodfellow, P. J., Staloch, L. J., Mutch, D. G. & Simon, T. C. Antisense transcripts at the EMX2 locus in human and mouse. Genomics 81, 58\u201366 (2003).","journal-title":"Genomics"},{"key":"27145_CR75","doi-asserted-by":"publisher","first-page":"825","DOI":"10.1038\/nn1093","volume":"6","author":"T Fukuchi-Shimogori","year":"2003","unstructured":"Fukuchi-Shimogori, T. & Grove, E. A. Emx2 patterns the neocortex by regulating FGF positional signaling. Nat Neurosci 6, 825\u2013831 (2003).","journal-title":"Nat Neurosci"},{"key":"27145_CR76","doi-asserted-by":"publisher","first-page":"451","DOI":"10.1111\/j.1440-169X.2012.01331.x","volume":"54","author":"JM Feenstra","year":"2012","unstructured":"Feenstra, J. M. et al. Detection of genes regulated by Lmx1b during limb dorsalization. Dev Growth Differ 54, 451\u2013462 (2012).","journal-title":"Dev Growth Differ"},{"key":"27145_CR77","doi-asserted-by":"publisher","first-page":"1001","DOI":"10.1002\/dvdy.23988","volume":"242","author":"K Weimer","year":"2013","unstructured":"Weimer, K., Theobald, J., Campbell, K. S., Esser, K. A. & DiMario, J. X. Genome-wide expression analysis and EMX2 gene expression in embryonic myoblasts committed to diverse skeletal muscle fiber type fates. Dev Dyn 242, 1001\u20131020 (2013).","journal-title":"Dev Dyn"},{"key":"27145_CR78","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1016\/j.ajhg.2014.03.004","volume":"94","author":"JK Pickrell","year":"2014","unstructured":"Pickrell, J. K. Joint analysis of functional genomic data and genome-wide association studies of 18 human traits. Am J Hum Genet 94, 559\u2013573 (2014).","journal-title":"Am J Hum Genet"},{"key":"27145_CR79","doi-asserted-by":"publisher","first-page":"255","DOI":"10.1002\/humu.20295","volume":"27","author":"N Chassaing","year":"2006","unstructured":"Chassaing, N., Bourthoumieu, S., Cossee, M., Calvas, P. & Vincent, M. C. Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. Hum Mutat 27, 255\u2013259 (2006).","journal-title":"Hum Mutat"},{"key":"27145_CR80","doi-asserted-by":"publisher","first-page":"2657","DOI":"10.1002\/ajmg.a.32509","volume":"146A","author":"H M\u00e9garban\u00e9","year":"2008","unstructured":"M\u00e9garban\u00e9, H. et al. Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene. Am J Med Genet A 146A, 2657\u20132662 (2008).","journal-title":"Am J Med Genet A"},{"key":"27145_CR81","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-015-0227-5","volume":"16","author":"C Stecks\u00e9n-Blicks","year":"2015","unstructured":"Stecks\u00e9n-Blicks, C., Falk Kieri, C., H\u00e4gg, D. & Schmitt-Egenolf, M. Hair shaft structures in EDAR induced ectodermal dysplasia. BMC Med Genet 16, 79 (2015).","journal-title":"BMC Med Genet"},{"key":"27145_CR82","first-page":"957432","volume":"2013","author":"C Pi\u00e9rard-Franchimont","year":"2013","unstructured":"Pi\u00e9rard-Franchimont, C. & Pi\u00e9rard, G. E. Alterations in hair follicle dynamics in women. Biomed Res Int 2013, 957432 (2013).","journal-title":"Biomed Res Int"},{"key":"27145_CR83","doi-asserted-by":"publisher","first-page":"258","DOI":"10.1038\/sj.jid.5700007","volume":"126","author":"NV Botchkareva","year":"2006","unstructured":"Botchkareva, N. V., Ahluwalia, G. & Shander, D. Apoptosis in the hair follicle. J Invest Dermatol 126, 258\u2013264 (2006).","journal-title":"J Invest Dermatol"},{"key":"27145_CR84","doi-asserted-by":"publisher","first-page":"793","DOI":"10.1111\/j.1346-8138.1998.tb02507.x","volume":"25","author":"R Paus","year":"1998","unstructured":"Paus, R. Principles of hair cycle control. J Dermatol 25, 793\u2013802 (1998).","journal-title":"J Dermatol"},{"key":"27145_CR85","doi-asserted-by":"publisher","first-page":"4353","DOI":"10.1091\/mbc.e06-02-0153","volume":"17","author":"JV Reddy","year":"2006","unstructured":"Reddy, J. V. et al. A functional role for the GCC185 golgin in mannose 6-phosphate receptor recycling. Mol Biol Cell 17, 4353\u20134363 (2006).","journal-title":"Mol Biol Cell"},{"key":"27145_CR86","doi-asserted-by":"publisher","first-page":"18","DOI":"10.3389\/fcell.2016.00018","volume":"4","author":"PY Cheung","year":"2016","unstructured":"Cheung, P. Y. & Pfeffer, S. R. Transport Vesicle Tethering at the Trans Golgi Network: Coiled Coil Proteins in Action. Front Cell Dev Biol 4, 18 (2016).","journal-title":"Front Cell Dev Biol"},{"key":"27145_CR87","doi-asserted-by":"publisher","first-page":"779","DOI":"10.1083\/jcb.201104019","volume":"194","author":"FC Brown","year":"2011","unstructured":"Brown, F. C., Schindelhaim, C. H. & Pfeffer, S. R. GCC185 plays independent roles in Golgi structure maintenance and AP-1-mediated vesicle tethering. J Cell Biol 194, 779\u2013787 (2011).","journal-title":"J Cell Biol"},{"key":"27145_CR88","doi-asserted-by":"publisher","first-page":"2425","DOI":"10.1128\/MCB.19.3.2425","volume":"19","author":"Y Tu","year":"1999","unstructured":"Tu, Y., Li, F., Goicoechea, S. & Wu, C. The LIM-only protein PINCH directly interacts with integrin-linked kinase and is recruited to integrin-rich sites in spreading cells. Mol Cell Biol 19, 2425\u20132434 (1999).","journal-title":"Mol Cell Biol"},{"key":"27145_CR89","doi-asserted-by":"publisher","first-page":"20677","DOI":"10.1073\/pnas.0811415106","volume":"105","author":"BP Chiswell","year":"2008","unstructured":"Chiswell, B. P., Zhang, R., Murphy, J. W., Boggon, T. J. & Calderwood, D. A. The structural basis of integrin-linked kinase-PINCH interactions. Proc Natl Acad Sci USA 105, 20677\u201320682 (2008).","journal-title":"Proc Natl Acad Sci USA"},{"key":"27145_CR90","doi-asserted-by":"publisher","first-page":"51324","DOI":"10.1074\/jbc.M309122200","volume":"278","author":"T Fukuda","year":"2003","unstructured":"Fukuda, T., Chen, K., Shi, X. & Wu, C. PINCH-1 is an obligate partner of integrin-linked kinase (ILK) functioning in cell shape modulation, motility, and survival. J Biol Chem 278, 51324\u201351333 (2003).","journal-title":"J Biol Chem"},{"key":"27145_CR91","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1038\/emboj.2009.376","volume":"29","author":"SA Wickstr\u00f6m","year":"2010","unstructured":"Wickstr\u00f6m, S. A., Lange, A., Montanez, E. & F\u00e4ssler, R. The ILK\/PINCH\/parvin complex: the kinase is dead, long live the pseudokinase. EMBO J 29, 281\u2013291 (2010).","journal-title":"EMBO J"},{"key":"27145_CR92","doi-asserted-by":"publisher","first-page":"501","DOI":"10.1083\/jcb.200608125","volume":"177","author":"K Lorenz","year":"2007","unstructured":"Lorenz, K. et al. Integrin-linked kinase is required for epidermal and hair follicle morphogenesis. J Cell Biol 177, 501\u2013513 (2007).","journal-title":"J Cell Biol"},{"key":"27145_CR93","doi-asserted-by":"publisher","first-page":"1023","DOI":"10.1242\/jcs.162545","volume":"128","author":"E Karak\u00f6se","year":"2015","unstructured":"Karak\u00f6se, E. et al. The focal adhesion protein PINCH-1 associates with EPLIN at integrin adhesion sites. J Cell Sci 128, 1023\u20131033 (2015).","journal-title":"J Cell Sci"},{"key":"27145_CR94","doi-asserted-by":"publisher","first-page":"5233","DOI":"10.1242\/jcs.112029","volume":"125","author":"E Montanez","year":"2012","unstructured":"Montanez, E., Karak\u00f6se, E., Tischner, D., Villunger, A. & F\u00e4ssler, R. PINCH-1 promotes Bcl-2-dependent survival signalling and inhibits JNK-mediated apoptosis in the primitive endoderm. J Cell Sci 125, 5233\u20135240 (2012).","journal-title":"J Cell Sci"},{"key":"27145_CR95","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1016\/j.mod.2004.10.011","volume":"122","author":"MK Singh","year":"2005","unstructured":"Singh, M. K. et al. The T-box transcription factor Tbx15 is required for skeletal development. Mech Dev 122, 131\u2013144 (2005).","journal-title":"Mech Dev"},{"key":"27145_CR96","doi-asserted-by":"publisher","first-page":"E3","DOI":"10.1371\/journal.pbio.0020003","volume":"2","author":"SI Candille","year":"2004","unstructured":"Candille, S. I. et al. Dorsoventral patterning of the mouse coat by Tbx15. PLoS Biol 2, E3 (2004).","journal-title":"PLoS Biol"},{"key":"27145_CR97","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms9054","volume":"6","author":"KY Lee","year":"2015","unstructured":"Lee, K. Y. et al. Tbx15 controls skeletal muscle fibre-type determination and muscle metabolism. Nat Commun 6, 8054 (2015).","journal-title":"Nat Commun"},{"key":"27145_CR98","doi-asserted-by":"publisher","first-page":"2822","DOI":"10.2337\/db17-0218","volume":"66","author":"KY Lee","year":"2017","unstructured":"Lee, K. Y. et al. Tbx15 Defines a Glycolytic Subpopulation and White Adipocyte Heterogeneity. Diabetes 66, 2822\u20132829 (2017).","journal-title":"Diabetes"},{"key":"27145_CR99","doi-asserted-by":"publisher","first-page":"872","DOI":"10.1038\/oby.2009.512","volume":"18","author":"Y Yamamoto","year":"2010","unstructured":"Yamamoto, Y. et al. Adipose depots possess unique developmental gene signatures. Obesity (Silver Spring) 18, 872\u2013878 (2010).","journal-title":"Obesity (Silver Spring)"},{"key":"27145_CR100","doi-asserted-by":"publisher","first-page":"949","DOI":"10.1038\/ng.685","volume":"42","author":"IM Heid","year":"2010","unstructured":"Heid, I. M. et al. Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat Genet 42, 949\u2013960 (2010).","journal-title":"Nat Genet"},{"key":"27145_CR101","doi-asserted-by":"publisher","first-page":"4738","DOI":"10.1093\/hmg\/ddu183","volume":"23","author":"CT Liu","year":"2014","unstructured":"Liu, C. T. et al. Multi-ethnic fine-mapping of 14 central adiposity loci. Hum Mol Genet 23, 4738\u20134744 (2014).","journal-title":"Hum Mol Genet"},{"key":"27145_CR102","doi-asserted-by":"crossref","unstructured":"D, B. The human eccrine sweat gland: Structure, function and disorders. Journal of Local and Global Health Science 5 (2015).","DOI":"10.5339\/jlghs.2015.5"},{"key":"27145_CR103","doi-asserted-by":"crossref","unstructured":"Shibasaki, M. & Crandall, C. G. Mechanisms and controllers of eccrine sweating in humans. Front Biosci (\n                           Schol Ed\n                           ) 2, 685\u2013696 (2010).","DOI":"10.2741\/s94"},{"key":"27145_CR104","doi-asserted-by":"publisher","first-page":"716","DOI":"10.1590\/abd1806-4841.20165358","volume":"91","author":"FR Romero","year":"2016","unstructured":"Romero, F. R., Haddad, G. R., Miot, H. A. & Cataneo, D. C. Palmar hyperhidrosis: clinical, pathophysiological, diagnostic and therapeutic aspects. An Bras Dermatol 91, 716\u2013725 (2016).","journal-title":"An Bras Dermatol"},{"key":"27145_CR105","first-page":"32","volume":"106","author":"T Schlereth","year":"2009","unstructured":"Schlereth, T., Dieterich, M. & Birklein, F. Hyperhidrosis\u2013causes and treatment of enhanced sweating. Dtsch Arztebl Int 106, 32\u201337 (2009).","journal-title":"Dtsch Arztebl Int"},{"key":"27145_CR106","doi-asserted-by":"publisher","first-page":"657","DOI":"10.4065\/80.5.657","volume":"80","author":"JH Eisenach","year":"2005","unstructured":"Eisenach, J. H., Atkinson, J. L. & Fealey, R. D. Hyperhidrosis: evolving therapies for a well-established phenomenon. Mayo Clin Proc 80, 657\u2013666 (2005).","journal-title":"Mayo Clin Proc"},{"key":"27145_CR107","doi-asserted-by":"publisher","first-page":"999","DOI":"10.1113\/jphysiol.2003.051102","volume":"553","author":"M Shibasaki","year":"2003","unstructured":"Shibasaki, M., Secher, N. H., Selmer, C., Kondo, N. & Crandall, C. G. Central command is capable of modulating sweating from non-glabrous human skin. J Physiol 553, 999\u20131004 (2003).","journal-title":"J Physiol"},{"key":"27145_CR108","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1016\/0165-1838(83)90021-8","volume":"8","author":"CJ Shih","year":"1983","unstructured":"Shih, C. J., Wu, J. J. & Lin, M. T. Autonomic dysfunction in palmar hyperhidrosis. J Auton Nerv Syst 8, 33\u201343 (1983).","journal-title":"J Auton Nerv Syst"},{"key":"27145_CR109","doi-asserted-by":"publisher","first-page":"112","DOI":"10.1159\/000008207","volume":"44","author":"P Birner","year":"2000","unstructured":"Birner, P., Heinzl, H., Schindl, M., Pumprla, J. & Schnider, P. Cardiac autonomic function in patients suffering from primary focal hyperhidrosis. Eur Neurol 44, 112\u2013116 (2000).","journal-title":"Eur Neurol"},{"key":"27145_CR110","doi-asserted-by":"publisher","first-page":"567","DOI":"10.1002\/ajmg.a.31127","volume":"140","author":"I Higashimoto","year":"2006","unstructured":"Higashimoto, I. et al. Primary palmar hyperhidrosis locus maps to 14q11.2-q13. Am J Med Genet A 140, 567\u2013572 (2006).","journal-title":"Am J Med Genet A"},{"key":"27145_CR111","doi-asserted-by":"publisher","first-page":"362","DOI":"10.1016\/S0006-291X(02)00657-5","volume":"295","author":"E Maury","year":"2002","unstructured":"Maury, E. et al. Human epidermis is a novel site of phospholipase B expression. Biochem Biophys Res Commun 295, 362\u2013369 (2002).","journal-title":"Biochem Biophys Res Commun"},{"key":"27145_CR112","doi-asserted-by":"publisher","first-page":"3494","DOI":"10.1002\/pmic.201000002","volume":"10","author":"A Asano","year":"2010","unstructured":"Asano, A., Nelson, J. L., Zhang, S. & Travis, A. J. Characterization of the proteomes associating with three distinct membrane raft sub-types in murine sperm. Proteomics 10, 3494\u20133505 (2010).","journal-title":"Proteomics"},{"key":"27145_CR113","doi-asserted-by":"publisher","first-page":"28104","DOI":"10.1074\/jbc.M113.450981","volume":"288","author":"A Asano","year":"2013","unstructured":"Asano, A., Nelson-Harrington, J. L. & Travis, A. J. Phospholipase B is activated in response to sterol removal and stimulates acrosome exocytosis in murine sperm. J Biol Chem 288, 28104\u201328115 (2013).","journal-title":"J Biol Chem"},{"key":"27145_CR114","doi-asserted-by":"publisher","first-page":"e27362","DOI":"10.4161\/cib.27362","volume":"6","author":"A Asano","year":"2013","unstructured":"Asano, A., Nelson-Harrington, J. L. & Travis, A. J. Membrane rafts regulate phospholipase B activation in murine sperm. Commun Integr Biol 6, e27362 (2013).","journal-title":"Commun Integr Biol"},{"key":"27145_CR115","doi-asserted-by":"crossref","unstructured":"Bradshaw, R. A. & Dennis, E. A. Handbook of Cell Signaling (Academic Press, 2009).","DOI":"10.1016\/B978-0-12-374145-5.00001-2"},{"key":"27145_CR116","doi-asserted-by":"publisher","first-page":"e0133324","DOI":"10.1371\/journal.pone.0133324","volume":"10","author":"JS Koffman","year":"2015","unstructured":"Koffman, J. S., Arnspang, E. C., Marlar, S. & Nejsum, L. N. Opposing Effects of cAMP and T259 Phosphorylation on Plasma Membrane Diffusion of the Water Channel Aquaporin-5 in Madin-Darby Canine Kidney Cells. PLoS One 10, e0133324 (2015).","journal-title":"PLoS One"},{"key":"27145_CR117","doi-asserted-by":"publisher","first-page":"e0143027","DOI":"10.1371\/journal.pone.0143027","volume":"10","author":"P Kitchen","year":"2015","unstructured":"Kitchen, P. et al. Plasma Membrane Abundance of Human Aquaporin 5 Is Dynamically Regulated by Multiple Pathways. PLoS One 10, e0143027 (2015).","journal-title":"PLoS One"},{"key":"27145_CR118","doi-asserted-by":"publisher","first-page":"324","DOI":"10.1038\/ng1733","volume":"38","author":"K Yoshiura","year":"2006","unstructured":"Yoshiura, K. et al. A SNP in the ABCC11 gene is the determinant of human earwax type. Nat Genet 38, 324\u2013330 (2006).","journal-title":"Nat Genet"},{"key":"27145_CR119","doi-asserted-by":"publisher","first-page":"7670483","DOI":"10.1155\/2016\/7670483","volume":"2016","author":"Y Toyoda","year":"2016","unstructured":"Toyoda, Y., Gomi, T., Nakagawa, H., Nagakura, M. & Ishikawa, T. Diagnosis of Human Axillary Osmidrosis by Genotyping of the Human ABCC11 Gene: Clinical Practice and Basic Scientific Evidence. Biomed Res Int 2016, 7670483 (2016).","journal-title":"Biomed Res Int"},{"key":"27145_CR120","doi-asserted-by":"publisher","first-page":"e0157172","DOI":"10.1371\/journal.pone.0157172","volume":"11","author":"Y Toyoda","year":"2016","unstructured":"Toyoda, Y., Takada, T., Miyata, H., Ishikawa, T. & Suzuki, H. Regulation of the Axillary Osmidrosis-Associated ABCC11 Protein Stability by N-Linked Glycosylation: Effect of Glucose Condition. PLoS One 11, e0157172 (2016).","journal-title":"PLoS One"},{"key":"27145_CR121","doi-asserted-by":"publisher","DOI":"10.1038\/srep46335","volume":"7","author":"Y Ren","year":"2017","unstructured":"Ren, Y. et al. A missense variant of the ABCC11 gene is associated with Axillary Osmidrosis susceptibility and clinical phenotypes in the Chinese Han Population. Sci Rep 7, 46335 (2017).","journal-title":"Sci Rep"},{"key":"27145_CR122","doi-asserted-by":"publisher","first-page":"904","DOI":"10.1038\/ng1847","volume":"38","author":"AL Price","year":"2006","unstructured":"Price, A. L. et al. Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 38, 904\u2013909 (2006).","journal-title":"Nat Genet"},{"key":"27145_CR123","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1086\/519795","volume":"81","author":"S Purcell","year":"2007","unstructured":"Purcell, S. et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81, 559\u2013575 (2007).","journal-title":"Am J Hum Genet"},{"key":"27145_CR124","doi-asserted-by":"publisher","DOI":"10.1186\/s13742-015-0047-8","volume":"4","author":"CC Chang","year":"2015","unstructured":"Chang, C. C. et al. Second-generation PLINK: rising to the challenge of larger and richer datasets. Gigascience 4, 7 (2015).","journal-title":"Gigascience"},{"key":"27145_CR125","unstructured":"R_Core_Team. R: A Language and Environment for Statistical Computing, https:\/\/www.R-project.org\/."},{"key":"27145_CR126","doi-asserted-by":"publisher","first-page":"R122","DOI":"10.1093\/hmg\/ddn288","volume":"17","author":"PI de Bakker","year":"2008","unstructured":"de Bakker, P. I. et al. Practical aspects of imputation-driven meta-analysis of genome-wide association studies. Hum Mol Genet 17, R122\u20138 (2008).","journal-title":"Hum Mol Genet"},{"key":"27145_CR127","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1038\/nature11632","volume":"491","author":"GR Abecasis","year":"2012","unstructured":"Abecasis, G. R. et al. An integrated map of genetic variation from 1,092 human genomes. Nature 491, 56\u201365 (2012).","journal-title":"Nature"},{"key":"27145_CR128","unstructured":"FE, H. rms: Regression Modeling Strategies. R package version 5.0-1., https:\/\/CRAN.R-project.org\/package=rms."},{"key":"27145_CR129","unstructured":"Steyerberg, E. W. Clinical prediction models: a practical approach to development, validation, and updating (Springer, New York, NY, 2009)."},{"key":"27145_CR130","unstructured":"Suman, K., Yurii, S. A. & A., C. J. W. J. PredictABEL: Assessment of Risk Prediction Models 2014."},{"key":"27145_CR131","doi-asserted-by":"publisher","first-page":"D930","DOI":"10.1093\/nar\/gkr917","volume":"40","author":"LD Ward","year":"2012","unstructured":"Ward, L. D. & Kellis, M. HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants. Nucleic Acids Res 40, D930\u20134 (2012).","journal-title":"Nucleic Acids Res"},{"key":"27145_CR132","doi-asserted-by":"publisher","first-page":"D799","DOI":"10.1093\/nar\/gku1202","volume":"43","author":"JD Eicher","year":"2015","unstructured":"Eicher, J. D. et al. GRASPv2.0: an update on the Genome-Wide Repository of Associations between SNPs and phenotypes. Nucleic Acids Res 43, D799\u2013804 (2015).","journal-title":"Nucleic Acids Res"},{"key":"27145_CR133","unstructured":"Burdett, T. et al. The NHGRI-EBI Catalog of published genome-wide association studies. http:\/\/www.ebi.ac.uk\/gwas (Accessed February 2 2017)."},{"key":"27145_CR134","doi-asserted-by":"publisher","first-page":"D1001","DOI":"10.1093\/nar\/gkt1229","volume":"42","author":"D Welter","year":"2014","unstructured":"Welter, D. et al. The NHGRI GWAS Catalog, a curated resource of SNP-trait associations. Nucleic Acids Res 42, D1001\u20136 (2014).","journal-title":"Nucleic Acids Res"},{"key":"27145_CR135","doi-asserted-by":"publisher","first-page":"648","DOI":"10.1126\/science.1262110","volume":"348","author":"GTE Consortium","year":"2015","unstructured":"Consortium, G. T. E. Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans. Science 348, 648\u2013660 (2015).","journal-title":"Science"},{"key":"27145_CR136","unstructured":"UCSC. UCSC Genome Browser, http:\/\/genome.ucsc.edu."},{"key":"27145_CR137","doi-asserted-by":"publisher","first-page":"e30629","DOI":"10.1371\/journal.pone.0030629","volume":"7","author":"JB Veyrieras","year":"2012","unstructured":"Veyrieras, J. B. et al. Exon-specific QTLs skew the inferred distribution of expression QTLs detected using gene expression array data. PLoS One 7, e30629 (2012).","journal-title":"PLoS One"},{"key":"27145_CR138","doi-asserted-by":"publisher","first-page":"e1000214","DOI":"10.1371\/journal.pgen.1000214","volume":"4","author":"JB Veyrieras","year":"2008","unstructured":"Veyrieras, J. B. et al. High-resolution mapping of expression-QTLs yields insight into human gene regulation. PLoS Genet 4, e1000214 (2008).","journal-title":"PLoS Genet"},{"key":"27145_CR139","doi-asserted-by":"publisher","first-page":"462","DOI":"10.1038\/nature13182","volume":"507","author":"FANTOM_Consortium_and_the_RIKEN_PMI_and_CLST_(DGT)","year":"2014","unstructured":"FANTOM_Consortium_and_the_RIKEN_PMI_and_CLST_(DGT). et al. A promoter-level mammalian expression atlas. Nature 507, 462\u2013470 (2014).","journal-title":"Nature"},{"key":"27145_CR140","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1038\/nbt.2840","volume":"32","author":"J Severin","year":"2014","unstructured":"Severin, J. et al. Interactive visualization and analysis of large-scale sequencing datasets using ZENBU. Nat Biotechnol 32, 217\u2013219 (2014).","journal-title":"Nat Biotechnol"},{"key":"27145_CR141","doi-asserted-by":"publisher","first-page":"989","DOI":"10.1038\/nmeth.1772","volume":"8","author":"X Zhou","year":"2011","unstructured":"Zhou, X. et al. The Human Epigenome Browser at Washington University. Nat Methods 8, 989\u2013990 (2011).","journal-title":"Nat Methods"},{"key":"27145_CR142","doi-asserted-by":"publisher","first-page":"1760","DOI":"10.1101\/gr.135350.111","volume":"22","author":"J Harrow","year":"2012","unstructured":"Harrow, J. et al. GENCODE: The reference human genome annotation for The ENCODE Project. Genome Res 22, 1760\u20131774 (2012).","journal-title":"Genome Res"}],"container-title":["Scientific Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41598-018-27145-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-018-27145-2","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-018-27145-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,21]],"date-time":"2022-12-21T06:24:54Z","timestamp":1671603894000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41598-018-27145-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,6,12]]},"references-count":142,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2018,12]]}},"alternative-id":["27145"],"URL":"https:\/\/doi.org\/10.1038\/s41598-018-27145-2","relation":{},"ISSN":["2045-2322"],"issn-type":[{"value":"2045-2322","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,6,12]]},"assertion":[{"value":"19 September 2017","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 May 2018","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 June 2018","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"T.A.J., S.K., N.Ka., S.K. are employees of StaGen Co. Ltd. R.M., M.A., Mai.Ka., T.Y., A.K., M.T., Y.H., A.T., K.I., M.H., M.Ko., and N.Ku. are employees of EverGene\/MTI. EverGene\/MTI has applied for patents related to some of the skin-related phenotype associations described in this report. N.Ka. is also Chairman of StaGen Co. Ltd. and a Director of the Tsukuba International Clinical Pharmacology Clinic. C.E., Y.T. and Mak.Ka. declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interests"}}],"article-number":"8974"}}