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GWAS Study

Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.

Bahlo M

19525955 PubMed ID
GWAS Study Type
9597 Participants
108 Views
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

BM
Bahlo M
Chapter II

Abstract

Summary of the research findings

To identify multiple sclerosis (MS) susceptibility loci, we conducted a genome-wide association study (GWAS) in 1,618 cases and used shared data for 3,413 controls. We performed replication in an independent set of 2,256 cases and 2,310 controls, for a total of 3,874 cases and 5,723 controls. We identified risk-associated SNPs on chromosome 12q13-14 (rs703842, P = 5.4 x 10(-11); rs10876994, P = 2.7 x 10(-10); rs12368653, P = 1.0 x 10(-7)) and upstream of CD40 on chromosome 20q13 (rs6074022, P = 1.3 x 10(-7); rs1569723, P = 2.9 x 10(-7)). Both loci are also associated with other autoimmune diseases. We also replicated several known MS associations (HLA-DR15, P = 7.0 x 10(-184); CD58, P = 9.6 x 10(-8); EVI5-RPL5, P = 2.5 x 10(-6); IL2RA, P = 7.4 x 10(-6); CLEC16A, P = 1.1 x 10(-4); IL7R, P = 1.3 x 10(-3); TYK2, P = 3.5 x 10(-3)) and observed a statistical interaction between SNPs in EVI5-RPL5 and HLA-DR15 (P = 0.001).

1,618 European ancestry cases, 3,413 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

9597
Total Participants
GWAS
Study Type
Yes
Replicated
2,256 European ancestry cases, 2,310 European ancestry controls
Replication Participants
European
Ancestry
U.S., Australia, U.K., New Zealand
Recruitment Country
Chapter IV

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