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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,

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Presentation on theme: "Genome-wide Association Study in a High-Risk Isolate for Multiple Sclerosis Reveals Associated Variants in STAT3 Gene  Eveliina Jakkula, Virpi Leppä,"— Presentation transcript:

1 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 (February 2010) DOI: /j.ajhg Copyright © 2010 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Population-Specific Association for the STAT3 rs A Allele The rs 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  , DOI: ( /j.ajhg ) Copyright © 2010 The American Society of Human Genetics Terms and Conditions

3 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 rs SNP is marked with a red arrow, and the other two SNPs, rs and rs957970, used in the haplotype analysis are marked with yellow arrows. The SNP marked with the blue arrow (rs ) was listed among the 100 top SNPs suggestively associated to MS in a previous meta-analysis.15 The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2010 The American Society of Human Genetics Terms and Conditions


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