Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20
Data analysis: Bahlo Melanie 2 Brown Matthew A 6 7 … - Nature …, 2009 - nature.com
Data analysis: Bahlo Melanie 2 Brown Matthew A 6 7 Browning Brian L 20 Browning Sharon …
Nature genetics, 2009•nature.comTo 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× 10− 11; rs10876994, P= 2.7× 10− 10; rs12368653, P= 1.0× 10− 7)
and upstream of CD40 on chromosome 20q13 (rs6074022, P= 1.3× 10− 7; rs1569723, P …
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× 10− 11; rs10876994, P= 2.7× 10− 10; rs12368653, P= 1.0× 10− 7)
and upstream of CD40 on chromosome 20q13 (rs6074022, P= 1.3× 10− 7; rs1569723, P …
Abstract
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 × 10−11; rs10876994, P = 2.7 × 10−10; rs12368653, P = 1.0 × 10−7) and upstream of CD40 on chromosome 20q13 (rs6074022, P = 1.3 × 10−7; rs1569723, P = 2.9 × 10−7). Both loci are also associated with other autoimmune diseases,,,,. We also replicated several known MS associations (HLA-DR15, P = 7.0 × 10−184; CD58, P = 9.6 × 10−8; EVI5-RPL5, P = 2.5 × 10−6; IL2RA, P = 7.4 × 10−6; CLEC16A, P = 1.1 × 10−4; IL7R, P = 1.3 × 10−3; TYK2, P = 3.5 × 10−3) and observed a statistical interaction between SNPs in EVI5-RPL5 and HLA-DR15 (P = 0.001).
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