Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20
Open accessAbstract
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).
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By 2011, common variants in 26 genomic loci had been associated with multiple sclerosis risk and independently replicated.
“by 2011, common variants in 26 genomic loci had been associated with MS risk and independently replicated”
From Genome‐wide association studies of multiple sclerosis (2018) · cites this paper as [37]
Several studies have explored the genetic basis of clinical course, age of onset and severity, although no genome-wide significant associations have been discovered.
“Several studies have explored the genetic basis of clinical course, age of onset and severity, although no genome‐wide significant associations have been discovered.36, 37, 43, 74, 75, 76, 77”
From Genome‐wide association studies of multiple sclerosis (2018) · cites this paper as [37]
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- Authors
- The Australia and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene)
- Venue
- Nature Genetics
- Published
- 2009-06-14
- Volume
- 41
- Issue
- 7
- Pages
- 824-828
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2094205468
- Cited by
- 550
- References
- 3
- Citations by year
- 2026: 2 · 2025: 10 · 2024: 13 · 2023: 15 · 2022: 16 · 2021: 22 · 2020: 10 · 2019: 29 · 2018: 25 · 2017: 28 · 2016: 28 · 2015: 46 · 2014: 34 · 2013: 57 · 2012: 53
- FWCI
- 50.25
- Type
- journal article
- Language
- en
- Open access
- green
- figshare.com
- Licence
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Murdoch University Research Portal (submittedVersion)
- eCite Digital Repository (University of Tasmania) (submittedVersion)
- UWA Profiles and Research Repository (UWA) (submittedVersion)
- Flinders Academic Commons (Flinders University) (submittedVersion)
- Figshare (submittedVersion, cc-by)
- Minerva Access (University of Melbourne) (submittedVersion)
- ANU Open Research (Australian National University) (submittedVersion)
- Griffith Research Online (submittedVersion)
- Topics
- Health Sciences › Medicine › Pathology and Forensic Medicine › Multiple Sclerosis Research Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Immunology and Microbiology › Immunology › Psoriasis: Treatment and Pathogenesis
- Keywords
- multiple sclerosis, genetic susceptibility loci, chromosome 20q13, CD40, HLA-DR15, single nucleotide polymorphisms, autoimmune disease susceptibility, genetic interactions, IL2RA, CD127, TYK2, CLEC16A, CD58
- MeSH terms
- Chromosomes, Human, Pair 12, Chromosomes, Human, Pair 20, Humans, Multiple Sclerosis, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Genome-Wide Association Study
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