Genome-wide Association Study in a High-Risk Isolate for Multiple Sclerosis Reveals Associated Variants in STAT3 Gene Eveliina Jakkula, Virpi Leppä,

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Genome-wide Association Study in a High-Risk Isolate for Multiple Sclerosis Reveals Associated Variants in STAT3 Gene Eveliina Jakkula, Virpi Leppä, Anna-Maija Sulonen, Teppo Varilo, Suvi Kallio, Anu Kemppinen, Shaun Purcell, Keijo Koivisto, Pentti Tienari, Marja-Liisa Sumelahti, Irina Elovaara, Tuula Pirttilä, Mauri Reunanen, Arpo Aromaa, Annette Bang Oturai, Helle Bach Søndergaard, Hanne F. Harbo, Inger-Lise Mero, Stacey B. Gabriel, Daniel B. Mirel, Stephen L. Hauser, Ludwig Kappos, Chris Polman, Philip L. De Jager, David A. Hafler, Mark J. Daly, Aarno Palotie, Janna Saarela, Leena Peltonen The American Journal of Human Genetics Volume 86, Issue 2, Pages 285-291 (February 2010) DOI: 10.1016/j.ajhg.2010.01.017 Copyright © 2010 The American Society of Human Genetics Terms and Conditions

Figure 1 Population-Specific Association for the STAT3 rs744166 A Allele The rs744166 A allele that tags a putative MS protective haplotype associated to MS and shows consistent reduced risk in all studied populations with available genotypes. The results are presented here by study set. Each line represents one study set showing the name of the set, A allele frequencies for cases and controls, ORs, p value for association, and graphic illustration of the odds ratio (square, size relative to study set size) with the 95% confidence intervals for the odds ratio (thin lines). The American Journal of Human Genetics 2010 86, 285-291DOI: (10.1016/j.ajhg.2010.01.017) Copyright © 2010 The American Society of Human Genetics Terms and Conditions

Figure 2 Description of the Associated LD Region in STAT3 The associated SNP and haplotypes are in a 54 kb LD block covering the beginning and immediate 5′ region of the STAT3 gene. The associated rs744166 SNP is marked with a red arrow, and the other two SNPs, rs6503695 and rs957970, used in the haplotype analysis are marked with yellow arrows. The SNP marked with the blue arrow (rs2293152) was listed among the 100 top SNPs suggestively associated to MS in a previous meta-analysis.15 The American Journal of Human Genetics 2010 86, 285-291DOI: (10.1016/j.ajhg.2010.01.017) Copyright © 2010 The American Society of Human Genetics Terms and Conditions