{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T18:28:07Z","timestamp":1778783287316,"version":"3.51.4"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T00:00:00Z","timestamp":1502409600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T00:00:00Z","timestamp":1502409600000},"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>Essential tremor (ET) is the most common tremor disorder. Evidences indicated that genetics plays an essential role in the researches of etiology. A new genome-wide association study (GWAS) from European population identified three novel loci in ET, which were rs10937625 in <jats:italic>STK32B<\/jats:italic>, rs17590046 in <jats:italic>PPARGC1A<\/jats:italic>, and rs12764057, rs10822974 and rs7903491 in <jats:italic>CTNNA3<\/jats:italic>. Due to the different genetic background in different population, we performed a case-control study to investigate these variants in a cohort of 533 subjects in Chinese population. We found a significant difference in the distributions of genotypes and alleles frequencies between ET and control groups of rs10937625 (genotype <jats:italic>p<\/jats:italic>\u2009=\u20090.037, OR\u2009=\u20090.69[0.48\u20130.98]; allele <jats:italic>p<\/jats:italic>\u2009=\u20090.033, OR\u2009=\u20090.82[0.69\u20130.99]) and rs7903491 (genotype <jats:italic>p<\/jats:italic>\u2009=\u20090.030, OR\u2009=\u20091.34[1.03\u20131.74]; allele <jats:italic>p<\/jats:italic>\u2009=\u20090.029, OR\u2009=\u20091.16[1.02\u20131.32]) after adjusted for age and gender. And no associations were detected between rs17590046 (genotype <jats:italic>p<\/jats:italic>\u2009=\u20090.794; allele <jats:italic>p<\/jats:italic>\u2009=\u20090.791), rs12764057 (genotype <jats:italic>p<\/jats:italic>\u2009=\u20090.337; allele <jats:italic>p<\/jats:italic>\u2009=\u20090.337), rs10822974 (genotype <jats:italic>p<\/jats:italic>\u2009=\u20090.102; allele <jats:italic>p<\/jats:italic>\u2009=\u20090.100) and ET in Chinese population individually. Our research supports that C allele of rs10937625 in <jats:italic>STK32B<\/jats:italic> is a protective factor and G allele of rs7903491 in <jats:italic>CTNNA3<\/jats:italic> is a risk factor for ET in Chinese population.<\/jats:p>","DOI":"10.1038\/s41598-017-08863-5","type":"journal-article","created":{"date-parts":[[2017,8,7]],"date-time":"2017-08-07T15:16:27Z","timestamp":1502118987000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Assessment of Three New Loci from Genome-wide Association Study in Essential Tremor in Chinese population"],"prefix":"10.1038","volume":"7","author":[{"given":"Yuan","family":"Zhang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuwen","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoting","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kai","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Minhan","family":"Yi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3658-3928","authenticated-orcid":false,"given":"Jifeng","family":"Guo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinxiang","family":"Yan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beisha","family":"Tang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiying","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2017,8,11]]},"reference":[{"key":"8863_CR1","doi-asserted-by":"publisher","first-page":"534","DOI":"10.1002\/mds.22838","volume":"25","author":"ED Louis","year":"2010","unstructured":"Louis, E. D. & Ferreira, J. J. How common is the most common adult movement disorder? Update on the worldwide prevalence of essential tremor. Movement disorders: official journal of the Movement Disorder Society \n                           25, 534\u2013541, doi:10.1002\/mds.22838 (2010).","journal-title":"Movement disorders: official journal of the Movement Disorder Society"},{"issue":"Suppl 3","key":"8863_CR2","first-page":"2","volume":"13","author":"G Deuschl","year":"1998","unstructured":"Deuschl, G., Bain, P. & Brin, M. Consensus statement of the Movement Disorder Society on Tremor. Ad Hoc Scientific Committee. Movement disorders: official journal of the Movement Disorder Society \n                           13(Suppl 3), 2\u201323 (1998).","journal-title":"Movement disorders: official journal of the Movement Disorder Society"},{"key":"8863_CR3","doi-asserted-by":"publisher","first-page":"407","DOI":"10.1016\/j.parkreldis.2011.12.003","volume":"18","author":"V Chandran","year":"2012","unstructured":"Chandran, V. & Pal, P. K. Essential tremor: beyond the motor features. Parkinsonism & related disorders \n                           18, 407\u2013413, doi:10.1016\/j.parkreldis.2011.12.003 (2012).","journal-title":"Parkinsonism & related disorders"},{"issue":"Suppl 1","key":"8863_CR4","doi-asserted-by":"publisher","first-page":"S176","DOI":"10.1016\/j.parkreldis.2015.09.022","volume":"22","author":"M Tio","year":"2016","unstructured":"Tio, M. & Tan, E. K. Genetics of essential tremor. Parkinsonism & related disorders \n                           22(Suppl 1), S176\u2013178, doi:10.1016\/j.parkreldis.2015.09.022 (2016).","journal-title":"Parkinsonism & related disorders"},{"key":"8863_CR5","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1038\/ng.299","volume":"41","author":"H Stefansson","year":"2009","unstructured":"Stefansson, H. et al. Variant in the sequence of the LINGO1 gene confers risk of essential tremor. Nature genetics \n                           41, 277\u2013279, doi:10.1038\/ng.299 (2009).","journal-title":"Nature genetics"},{"key":"8863_CR6","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1212\/WNL.0b013e31825fdeed","volume":"79","author":"S Thier","year":"2012","unstructured":"Thier, S. et al. Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor. Neurology \n                           79, 243\u2013248, doi:10.1212\/WNL.0b013e31825fdeed (2012).","journal-title":"Neurology"},{"key":"8863_CR7","doi-asserted-by":"publisher","first-page":"313","DOI":"10.1016\/j.ajhg.2012.07.002","volume":"91","author":"ND Merner","year":"2012","unstructured":"Merner, N. D. et al. Exome sequencing identifies FUS mutations as a cause of essential tremor. American journal of human genetics \n                           91, 313\u2013319, doi:10.1016\/j.ajhg.2012.07.002 (2012).","journal-title":"American journal of human genetics"},{"key":"8863_CR8","doi-asserted-by":"publisher","first-page":"18285","DOI":"10.1073\/pnas.1419581111","volume":"111","author":"H Unal Gulsuner","year":"2014","unstructured":"Unal Gulsuner, H. et al. Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease. Proceedings of the National Academy of Sciences of the United States of America \n                           111, 18285\u201318290, doi:10.1073\/pnas.1419581111 (2014).","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"8863_CR9","doi-asserted-by":"publisher","first-page":"5677","DOI":"10.1093\/hmg\/ddv281","volume":"24","author":"H Hor","year":"2015","unstructured":"Hor, H. et al. Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor. Human molecular genetics \n                           24, 5677\u20135686, doi:10.1093\/hmg\/ddv281 (2015).","journal-title":"Human molecular genetics"},{"issue":"935","key":"8863_CR10","doi-asserted-by":"publisher","first-page":"e939","DOI":"10.1016\/j.neurobiolaging.2013.09.022","volume":"35","author":"JP Ross","year":"2014","unstructured":"Ross, J. P. et al. SLC1A2 rs3794087 does not associate with essential tremor. Neurobiology of aging \n                           35(935), e939\u2013910, doi:10.1016\/j.neurobiolaging.2013.09.022 (2014).","journal-title":"Neurobiology of aging"},{"issue":"2078","key":"8863_CR11","doi-asserted-by":"publisher","first-page":"e2073","DOI":"10.1016\/j.neurobiolaging.2013.03.001","volume":"34","author":"W Zheng","year":"2013","unstructured":"Zheng, W. et al. Genetic analysis of the fused in sarcoma gene in Chinese Han patients with essential tremor. Neurobiology of aging \n                           34(2078), e2073\u20132074, doi:10.1016\/j.neurobiolaging.2013.03.001 (2013).","journal-title":"Neurobiology of aging"},{"key":"8863_CR12","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1016\/j.parkreldis.2016.05.003","volume":"31","author":"YX Chao","year":"2016","unstructured":"Chao, Y. X. et al. Essential tremor linked TENM4 mutation found in healthy Chinese individuals. Parkinsonism & related disorders \n                           31, 139\u2013140, doi:10.1016\/j.parkreldis.2016.05.003 (2016).","journal-title":"Parkinsonism & related disorders"},{"key":"8863_CR13","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1016\/j.neulet.2010.06.041","volume":"481","author":"X Zuo","year":"2010","unstructured":"Zuo, X. et al. Screening for two SNPs of LINGO1 gene in patients with essential tremor or sporadic Parkinson\u2019s disease in Chinese population. Neuroscience letters \n                           481, 69\u201372, doi:10.1016\/j.neulet.2010.06.041 (2010).","journal-title":"Neuroscience letters"},{"key":"8863_CR14","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1016\/j.neulet.2010.10.016","volume":"487","author":"Y Guo","year":"2011","unstructured":"Guo, Y. et al. LINGO1 rs9652490 variant in Parkinson disease patients. Neuroscience letters \n                           487, 174\u2013176, doi:10.1016\/j.neulet.2010.10.016 (2011).","journal-title":"Neuroscience letters"},{"key":"8863_CR15","doi-asserted-by":"publisher","first-page":"3163","DOI":"10.1093\/brain\/aww242","volume":"139","author":"SH Muller","year":"2016","unstructured":"Muller, S. H. et al. Genome-wide association study in essential tremor identifies three new loci. Brain: a journal of neurology \n                           139, 3163\u20133169, doi:10.1093\/brain\/aww242 (2016).","journal-title":"Brain: a journal of neurology"},{"key":"8863_CR16","doi-asserted-by":"publisher","unstructured":"Xiao, B. et al. GWAS-linked PPARGC1A variant in Asian patients with essential tremor. Brain: a journal of neurology, doi:10.1093\/brain\/awx027 (2017).","DOI":"10.1093\/brain\/awx027"},{"key":"8863_CR17","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1111\/j.1471-4159.2011.07432.x","volume":"119","author":"D Trabzuni","year":"2011","unstructured":"Trabzuni, D. et al. Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies. Journal of neurochemistry \n                           119, 275\u2013282, doi:10.1111\/j.1471-4159.2011.07432.x (2011).","journal-title":"Journal of neurochemistry"},{"key":"8863_CR18","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1016\/j.cmet.2006.10.004","volume":"4","author":"P Weydt","year":"2006","unstructured":"Weydt, P. et al. Thermoregulatory and metabolic defects in Huntington\u2019s disease transgenic mice implicate PGC-1alpha in Huntington\u2019s disease neurodegeneration. Cell metabolism \n                           4, 349\u2013362, doi:10.1016\/j.cmet.2006.10.004 (2006).","journal-title":"Cell metabolism"},{"key":"8863_CR19","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1016\/S0092-8674(00)80611-X","volume":"98","author":"Z Wu","year":"1999","unstructured":"Wu, Z. et al. Mechanisms controlling mitochondrial biogenesis and respiration through the thermogenic coactivator PGC-1. Cell \n                           98, 115\u2013124, doi:10.1016\/s0092-8674(00)80611-x (1999).","journal-title":"Cell"},{"key":"8863_CR20","doi-asserted-by":"publisher","first-page":"2854","DOI":"10.1093\/hmg\/ddm244","volume":"16","author":"A Miyashita","year":"2007","unstructured":"Miyashita, A. et al. Genetic association of CTNNA3 with late-onset Alzheimer\u2019s disease in females. Human molecular genetics \n                           16, 2854\u20132869, doi:10.1093\/hmg\/ddm244 (2007).","journal-title":"Human molecular genetics"},{"key":"8863_CR21","doi-asserted-by":"publisher","first-page":"765","DOI":"10.1111\/j.1468-1331.2010.02976.x","volume":"17","author":"ED Louis","year":"2010","unstructured":"Louis, E. D. et al. Alzheimer\u2019s disease, Parkinson\u2019s disease and essential tremor: three common degenerative diseases with shared mechanisms? European journal of neurology \n                           17, 765\u2013766, doi:10.1111\/j.1468-1331.2010.02976.x (2010).","journal-title":"European journal of neurology"},{"key":"8863_CR22","doi-asserted-by":"publisher","first-page":"473","DOI":"10.1007\/s12311-016-0826-5","volume":"16","author":"SH Kuo","year":"2017","unstructured":"Kuo, S. H. et al. Cerebellar Pathology in Early Onset and Late Onset Essential Tremor. Cerebellum (London, England) \n                           16, 473\u2013482, doi:10.1007\/s12311-016-0826-5 (2017).","journal-title":"Cerebellum (London, England)"}],"container-title":["Scientific Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41598-017-08863-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-017-08863-5","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-017-08863-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,23]],"date-time":"2022-12-23T08:26:45Z","timestamp":1671784005000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41598-017-08863-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,11]]},"references-count":22,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2017,12]]}},"alternative-id":["8863"],"URL":"https:\/\/doi.org\/10.1038\/s41598-017-08863-5","relation":{},"ISSN":["2045-2322"],"issn-type":[{"value":"2045-2322","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,8,11]]},"assertion":[{"value":"16 February 2017","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 July 2017","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 August 2017","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare that they have no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interests"}}],"article-number":"7981"}}