{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:43:44Z","timestamp":1787028224425,"version":"build-2736575974"},"reference-count":74,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2019,1,23]],"date-time":"2019-01-23T00:00:00Z","timestamp":1548201600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100006769","name":"Russian Science Foundation","doi-asserted-by":"publisher","award":["14-14-01140"],"award-info":[{"award-number":["14-14-01140"]}],"id":[{"id":"10.13039\/501100006769","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Genome-wide association studies (GWASes) revealed several single-nucleotide polymorphisms (SNPs) in the human 17q12-21 locus associated with autoimmune diseases. However, follow-up studies are still needed to identify causative SNPs directly mediating autoimmune risk in the locus. We have chosen six SNPs in high linkage disequilibrium with the GWAS hits that showed the strongest evidence of causality according to association pattern and epigenetic data and assessed their functionality in a local genomic context using luciferase reporter system. We found that rs12946510, rs4795397, rs12709365, and rs8067378 influenced the reporter expression level in leukocytic cell lines. The strongest effect visible in three distinct cell types was observed for rs12946510 that is predicted to alter MEF2A\/C and FOXO1 binding sites.<\/jats:p>","DOI":"10.3390\/genes10020077","type":"journal-article","created":{"date-parts":[[2019,1,24]],"date-time":"2019-01-24T11:12:48Z","timestamp":1548328368000},"page":"77","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Functional SNPs in the Human Autoimmunity-Associated Locus 17q12-21"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1065-4206","authenticated-orcid":false,"given":"Alina S.","family":"Ustiugova","sequence":"first","affiliation":[{"name":"Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, 119991 Moscow, Russia"},{"name":"Biological Faculty, Lomonosov Moscow State University, 119234 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3570-8327","authenticated-orcid":false,"given":"Kirill V.","family":"Korneev","sequence":"additional","affiliation":[{"name":"Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, 119991 Moscow, Russia"},{"name":"Biological Faculty, Lomonosov Moscow State University, 119234 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1488-4148","authenticated-orcid":false,"given":"Dmitry V.","family":"Kuprash","sequence":"additional","affiliation":[{"name":"Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, 119991 Moscow, Russia"},{"name":"Biological Faculty, Lomonosov Moscow State University, 119234 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5294-970X","authenticated-orcid":false,"given":"Marina A.","family":"Afanasyeva","sequence":"additional","affiliation":[{"name":"Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, 119991 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2019,1,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1684","DOI":"10.1126\/science.2270482","article-title":"Linkage of Early-Onset Familial Breast Cancer to Chromosome 17q21","volume":"250","author":"Hall","year":"1990","journal-title":"Science"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1812","DOI":"10.1164\/ajrccm.162.5.2002113","article-title":"Genome Screen for Asthma and Related Phenotypes in the French EGEA Study","volume":"162","author":"Dizier","year":"2000","journal-title":"Am. J. Respir. Crit. Care Med."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1038\/nature06014","article-title":"Genetic Variants Regulating ORMDL3 Expression Contribute to the Risk of Childhood Asthma","volume":"448","author":"Moffatt","year":"2007","journal-title":"Nature"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1016\/j.jaci.2017.12.974","article-title":"A Decade of Research on the 17q12-21 Asthma Locus: Piecing Together the Puzzle","volume":"142","author":"Stein","year":"2018","journal-title":"J. Allergy Clin. Immunol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1038\/ng.789","article-title":"Genome-Wide Association Study Identifies 12 New Susceptibility Loci for Primary Biliary Cirrhosis","volume":"43","author":"Mells","year":"2011","journal-title":"Nat. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1038\/ng.631","article-title":"Variants at IRF5-TNPO3, 17q12-21 and MMEL1 Are Associated with Primary Biliary Cirrhosis","volume":"42","author":"Hirschfield","year":"2010","journal-title":"Nat. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1038\/ng.582","article-title":"Genome-Wide Association Study Meta-Analysis Identifies Seven New Rheumatoid Arthritis Risk Loci","volume":"42","author":"Stahl","year":"2010","journal-title":"Nat. Genet."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1002\/dmrr.1259","article-title":"Genetic Association Analyses of Atopic Illness and Proinflammatory Cytokine Genes with Type 1 Diabetes","volume":"27","author":"Saleh","year":"2011","journal-title":"Diabetes Metab. Res. Rev."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1038\/ng.764","article-title":"Meta-Analysis Identifies 29 Additional Ulcerative Colitis Risk Loci, Increasing the Number of Confirmed Associations to 47","volume":"43","author":"Anderson","year":"2011","journal-title":"Nat. Genet."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1038\/ng.175","article-title":"Genome-Wide Association Defines More than 30 Distinct Susceptibility Loci for Crohn\u2019s Disease","volume":"40","author":"Barrett","year":"2008","journal-title":"Nat. Genet."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1016\/j.jaci.2016.10.055","article-title":"Shared Genetic Variants Suggest Common Pathways in Allergy and Autoimmune Diseases","volume":"140","author":"Kreiner","year":"2017","journal-title":"J. Allergy Clin. Immunol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1272","DOI":"10.1016\/j.molimm.2011.03.006","article-title":"The Ikaros Gene Family: Transcriptional Regulators of Hematopoiesis and Immunity","volume":"48","author":"John","year":"2011","journal-title":"Mol. Immunol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1038\/ni.3731","article-title":"The Multiple Pathways to Autoimmunity","volume":"18","author":"Theofilopoulos","year":"2017","journal-title":"Nat. Immunol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1038\/nrg.2015.33","article-title":"Autoimmune Diseases\u2014Connecting Risk Alleles with Molecular Traits of the Immune System","volume":"17","author":"Rich","year":"2016","journal-title":"Nat. Rev. Genet."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"R111","DOI":"10.1093\/hmg\/ddv260","article-title":"Strategies for Fine-Mapping Complex Traits","volume":"24","author":"Spain","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/nature13835","article-title":"Genetic and Epigenetic Fine Mapping of Causal Autoimmune Disease Variants","volume":"518","author":"Farh","year":"2015","journal-title":"Nature"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"13426","DOI":"10.1038\/ncomms13426","article-title":"17q21 Asthma-Risk Variants Switch CTCF Binding and Regulate IL-2 Production by T Cells","volume":"7","author":"Schmiedel","year":"2016","journal-title":"Nat. Commun."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1038\/nprot.2015.136","article-title":"Enhancer Scanning to Locate Regulatory Regions in Genomic Loci","volume":"11","author":"Buckley","year":"2016","journal-title":"Nat. Protoc."},{"key":"ref_19","unstructured":"(2018, November 14). Finemapping. Available online: https:\/\/pubs.broadinstitute.org\/pubs\/finemapping\/dataportal.php."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1246949","DOI":"10.1126\/science.1246949","article-title":"Innate Immune Activity Conditions the Effect of Regulatory Variants upon Monocyte Gene Expression","volume":"343","author":"Fairfax","year":"2014","journal-title":"Science"},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Zeller, T., Wild, P., Szymczak, S., Rotival, M., Schillert, A., Castagne, R., Maouche, S., Germain, M., Lackner, K., and Rossmann, H. (2010). Genetics and Beyond\u2014The Transcriptome of Human Monocytes and Disease Susceptibility. PLoS ONE, 5.","DOI":"10.1371\/journal.pone.0010693"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1238","DOI":"10.1038\/ng.2756","article-title":"Systematic Identification of Trans EQTLs as Putative Drivers of Known Disease Associations","volume":"45","author":"Westra","year":"2013","journal-title":"Nat. Genet."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1016\/j.ajhg.2016.12.008","article-title":"The Genetic Architecture of Gene Expression in Peripheral Blood","volume":"100","author":"Holloway","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1038\/ng.2951","article-title":"Heritability and Genomics of Gene Expression in Peripheral Blood","volume":"46","author":"Wright","year":"2014","journal-title":"Nat. Genet."},{"key":"ref_25","doi-asserted-by":"crossref","unstructured":"Bryois, J., Buil, A., Evans, D.M., Kemp, J.P., Montgomery, S.B., Conrad, D.F., Ho, K.M., Ring, S., Hurles, M., and Deloukas, P. (2014). Cis and Trans Effects of Human Genomic Variants on Gene Expression. PLoS Genet., 10.","DOI":"10.1371\/journal.pgen.1004461"},{"key":"ref_26","doi-asserted-by":"crossref","unstructured":"Fehrmann, R.S.N., Jansen, R.C., Veldink, J.H., Westra, H.-J., Arends, D., Bonder, M.J., Fu, J., Deelen, P., Groen, H.J.M., and Smolonska, A. (2011). Trans-eQTLs Reveal That Independent Genetic Variants Associated with a Complex Phenotype Converge on Intermediate Genes, with a Major Role for the HLA. PLoS Genet., 7.","DOI":"10.1371\/journal.pgen.1002197"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"1246","DOI":"10.1126\/science.1174148","article-title":"Common Regulatory Variation Impacts Gene Expression in a Cell Type-Dependent Manner","volume":"325","author":"Dimas","year":"2009","journal-title":"Science"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"4745","DOI":"10.1093\/hmg\/ddq392","article-title":"Mapping of Numerous Disease-Associated Expression Polymorphisms in Primary Peripheral Blood CD4+ Lymphocytes","volume":"19","author":"Murphy","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"ref_29","doi-asserted-by":"crossref","unstructured":"Westra, H.-J., Arends, D., Esko, T., Peters, M.J., Schurmann, C., Schramm, K., Kettunen, J., Yaghootkar, H., Fairfax, B.P., and Andiappan, A.K. (2015). Cell Specific eQTL Analysis without Sorting Cells. PLoS Genet., 11.","DOI":"10.1371\/journal.pgen.1005223"},{"key":"ref_30","doi-asserted-by":"crossref","unstructured":"Heap, G.A., Trynka, G., Jansen, R.C., Bruinenberg, M., Swertz, M.A., Dinesen, L.C., Hunt, K.A., Wijmenga, C., Vanheel, D.A., and Franke, L. (2009). Complex Nature of SNP Genotype Effects on Gene Expression in Primary Human Leucocytes. BMC Med. Genom., 2.","DOI":"10.1186\/1755-8794-2-1"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1038\/ng.495","article-title":"Geographical Genomics of Human Leukocyte Gene Expression Variation in Southern Morocco","volume":"42","author":"Idaghdour","year":"2010","journal-title":"Nat. Genet."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"1208","DOI":"10.1038\/ng2119","article-title":"Discovery of Expression QTLs Using Large-Scale Transcriptional Profiling in Human Lymphocytes","volume":"39","author":"Curran","year":"2007","journal-title":"Nat. Genet."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1371\/journal.pbio.1000001","article-title":"Tissue-Specific Genetic Control of Splicing: Implications for the Study of Complex Traits","volume":"6","author":"Heinzen","year":"2008","journal-title":"PLoS Biol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1038\/ng.2205","article-title":"Genetics of Gene Expression in Primary Immune Cells Identifies Cell Type-Specific Master Regulators and Roles of HLA Alleles","volume":"44","author":"Fairfax","year":"2012","journal-title":"Nat. Genet."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"e35430","DOI":"10.1371\/journal.pone.0035430","article-title":"The Brisbane Systems Genetics Study: Genetical Genomics Meets Complex Trait Genetics","volume":"7","author":"Powell","year":"2012","journal-title":"PLoS ONE"},{"key":"ref_36","unstructured":"(2018, November 14). SNAP Pairwise LD tool. Available online: http:\/\/archive.broadinstitute.org\/mpg\/snap\/ldsearchpw.php."},{"key":"ref_37","unstructured":"Korneev, K.V., Sviriaeva, E.N., Mitkin, N.A., Gorbacheva, A.M., Uvarova, A.N., Ustiugova, A.S., Afanasyeva, M.A., Kulakovskiy, I.V., Schwartz, A.M., and Kuprash, D.V. Minor C Allele of the SNP Rs7873784 Creates a Strong PU.1 Binding Site and Promotes Enhancer Activity of 3\u2019-Untranslated Region of TLR4 Gene in U937 Monocytes, Manuscript in preparation."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1038\/ng.549","article-title":"Genome-Wide Association Identifies Multiple Ulcerative Colitis Susceptibility Loci","volume":"42","author":"McGovern","year":"2010","journal-title":"Nat. Genet."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"1353","DOI":"10.1038\/ng.2770","article-title":"Analysis of Immune-Related Loci Identifies 48 New Susceptibility Variants for Multiple Sclerosis","volume":"45","author":"Beecham","year":"2013","journal-title":"Nat. Genet."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"1118","DOI":"10.1038\/ng.717","article-title":"Genome-Wide Meta-Analysis Increases to 71 the Number of Confirmed Crohn\u2019s Disease Susceptibility Loci","volume":"42","author":"Franke","year":"2010","journal-title":"Nat. Genet."},{"key":"ref_41","doi-asserted-by":"crossref","unstructured":"Plagnol, V., Howson, J.M.M., Smyth, D.J., Walker, N., Hafler, J.P., Wallace, C., Stevens, H., Jackson, L., Simmonds, M.J., and Bingley, P.J. (2011). Genome-Wide Association Analysis of Autoantibody Positivity in Type 1 Diabetes Cases. PLoS Genet., 7.","DOI":"10.1371\/journal.pgen.1002216"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"1336","DOI":"10.1038\/ng.2462","article-title":"High-Density Genetic Mapping Identifies New Susceptibility Loci for Rheumatoid Arthritis","volume":"44","author":"Eyre","year":"2012","journal-title":"Nat. Genet."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"1137","DOI":"10.1038\/ng.2395","article-title":"Dense Fine-Mapping Study Identifies New Susceptibility Loci for Primary Biliary Cirrhosis","volume":"44","author":"Liu","year":"2012","journal-title":"Nat. Genet."},{"key":"ref_44","unstructured":"(2018, November 14). 1000 Genomes|A Deep Catalog of Human Genetic Variation. Available online: http:\/\/www.internationalgenome.org\/."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1016\/j.cell.2016.07.012","article-title":"The Genetics of Transcription Factor DNA Binding Variation","volume":"166","author":"Deplancke","year":"2016","journal-title":"Cell"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"6046","DOI":"10.1093\/nar\/gkw500","article-title":"How Far from the SNP May the Causative Genes Be?","volume":"44","author":"Brodie","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"1747","DOI":"10.1038\/ng.3979","article-title":"Predicting Causal Variants Affecting Expression by Using Whole-Genome Sequencing and RNA-Seq from Multiple Human Tissues","volume":"49","author":"Brown","year":"2017","journal-title":"Nat. Genet."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1038\/nature06758","article-title":"Genetics of Gene Expression and Its Effect on Disease","volume":"452","author":"Emilsson","year":"2008","journal-title":"Nature"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1038\/nature24277","article-title":"Genetic Effects on Gene Expression across Human Tissues","volume":"550","author":"Aguet","year":"2017","journal-title":"Nature"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1038\/ng.2653","article-title":"The Genotype-Tissue Expression (GTEx) Project","volume":"45","author":"Lonsdale","year":"2013","journal-title":"Nat. Genet."},{"key":"ref_51","unstructured":"(2018, November 14). UCSC Genome Browser. Available online: https:\/\/genome.ucsc.edu\/."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1101\/gr.229102","article-title":"The Human Genome Browser at UCSC","volume":"12","author":"Kent","year":"2002","journal-title":"Genome Res."},{"key":"ref_53","unstructured":"(2018, November 14). ENCODE: Encyclopedia of DNA Elements. Available online: https:\/\/www.encodeproject.org\/."},{"key":"ref_54","doi-asserted-by":"crossref","unstructured":"ENCODE Project Consortium (2012). An Integrated Encyclopedia of DNA Elements in the Human Genome. Nature, 489, 57\u201374.","DOI":"10.1038\/nature11247"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/nature15393","article-title":"A Global Reference for Human Genetic Variation","volume":"526","author":"Gibbs","year":"2015","journal-title":"Nature"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1002\/ijc.2910230206","article-title":"Characterization of a Leukemic Cell Line of the Pre-B Phenotype","volume":"23","author":"Hurwitz","year":"1979","journal-title":"Int. J. Cancer"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1007\/BF00344027","article-title":"Human Lymphoblastoid Cell Lines Secreting Antibodies with Restricted HLA Specificity","volume":"25","author":"Pistillo","year":"1987","journal-title":"Immunogenetics"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1002\/ijc.2910190505","article-title":"Characterization of EBV-genome Negative \u201cNull\u201d and \u201cT\u201d Cell Lines Derived from Children with Acute Lymphoblastic Leukemia and Leukemic Transformed Non-Hodgkin Lymphoma","volume":"19","author":"Schneider","year":"1977","journal-title":"Int. J. Cancer"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1016\/0092-8674(86)90660-4","article-title":"Regulation of Human Interleukin-2 Gene: Functional DNA Sequences in the 5\u2032 Flanking Region for the Gene Expression in Activated T Lymphocytes","volume":"46","author":"Fujita","year":"1986","journal-title":"Cell"},{"key":"ref_60","doi-asserted-by":"crossref","unstructured":"Roose, J.P., Diehn, M., Tomlinson, M.G., Lin, J., Alizadeh, A.A., Botstein, D., Brown, P.O., and Weiss, A. (2003). T Cell Receptor-Independent Basal Signaling via Erk and Abl Kinases Suppresses RAG Gene Expression. PLoS Biol., 1.","DOI":"10.1371\/journal.pbio.0000053"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"780","DOI":"10.1038\/cmi.2014.123","article-title":"Characterization of MT-2 Cells as a Human Regulatory T Cell-like Cell Line","volume":"12","author":"Hamano","year":"2015","journal-title":"Cell. Mol. Immunol."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1002\/ijc.2910170504","article-title":"Establishment and Characterization of a Human Histiocytic Lymphoma Cell Line (U-937)","volume":"17","author":"Nilsson","year":"1976","journal-title":"Int. J. Cancer"},{"key":"ref_63","unstructured":"(2018, November 14). PERFECTOS-APE: PrEdicting Regulatory Functional Effect by Approximate P-value Estimation. Available online: http:\/\/opera.autosome.ru\/perfectosape\/."},{"key":"ref_64","doi-asserted-by":"crossref","unstructured":"Vorontsov, I.E., Kulakovskiy, I.V., Khimulya, G., Nikolaeva, D.D., and Makeev, V.J. (2015, January 12\u201315). PERFECTOS-APE: PrEdicting Regulatory Functional Effect by Approximate P-value Estimation. Proceedings of the International Conference on Bioinformatics Models, Methods and Algorithms, Lisbon, Portugal.","DOI":"10.5220\/0005189301020108"},{"key":"ref_65","unstructured":"(2018, November 14). JASPAR 2018. Available online: http:\/\/jaspar.genereg.net\/."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"1259","DOI":"10.1016\/j.bbagrm.2016.07.004","article-title":"Early B-Cell Factor 1 (EBF1) Is Critical for Transcriptional Control of SLAMF1 Gene in Human B Cells","volume":"1859","author":"Schwartz","year":"2016","journal-title":"Biochim. Biophys. Acta Gene Regul. Mech."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"D896","DOI":"10.1093\/nar\/gkw1133","article-title":"The New NHGRI-EBI Catalog of Published Genome-Wide Association Studies (GWAS Catalog)","volume":"45","author":"MacArthur","year":"2017","journal-title":"Nucleic Acids Res."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1038\/s41576-018-0016-z","article-title":"From Genome-Wide Associations to Candidate Causal Variants by Statistical Fine-Mapping","volume":"19","author":"Schaid","year":"2018","journal-title":"Nat. Rev. Genet."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1016\/S1074-7613(00)80637-8","article-title":"Aiolos Regulates B Cell Activation and Maturation to Effector State","volume":"9","author":"Wang","year":"1998","journal-title":"Immunity"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"E2191","DOI":"10.1073\/pnas.1320308111","article-title":"Global View of Enhancer-Promoter Interactome in Human Cells","volume":"111","author":"He","year":"2014","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1016\/S0161-5890(98)00058-3","article-title":"Characterization of Myocyte Enhancer Factor 2 (MEF2) Expression in B and T Cells: MEF2C Is a B Cell-Restricted Transcription Factor in Lymphocytes","volume":"35","author":"Swanson","year":"1998","journal-title":"Mol. Immunol."},{"key":"ref_72","doi-asserted-by":"crossref","unstructured":"Kong, N.R., Davis, M., Chai, L., Winoto, A., and Tjian, R. (2016). MEF2C and EBF1 Co-Regulate B Cell-Specific Transcription. PLoS Genet., 12.","DOI":"10.1371\/journal.pgen.1005845"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"21028","DOI":"10.1073\/pnas.1211427109","article-title":"Positive Intergenic Feedback Circuitry, Involving EBF1 and FOXO1, Orchestrates B-Cell Fate","volume":"109","author":"Mansson","year":"2012","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/j.ajhg.2009.08.007","article-title":"Allele-Specific Chromatin Remodeling in the ZPBP2\/GSDMB\/ORMDL3 Locus Associated with the Risk of Asthma and Autoimmune Disease","volume":"85","author":"Verlaan","year":"2009","journal-title":"Am. J. Hum. Genet."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/10\/2\/77\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T12:28:13Z","timestamp":1760185693000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/10\/2\/77"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1,23]]},"references-count":74,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2019,2]]}},"alternative-id":["genes10020077"],"URL":"https:\/\/doi.org\/10.3390\/genes10020077","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,1,23]]}}}