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Identification of a Novel Risk Locus for Multiple Sclerosis at 13q31.3 by a Pooled Genome-Wide Scan of 500,000 Single Nucleotide Polymorphisms
Open accessAbstract
Multiple sclerosis is a chronic inflammatory demyelinating disease of the central nervous system with an important genetic component and strongest association driven by the HLA genes. We performed a pooling-based genome-wide association study of 500,000 SNPs in order to find new loci associated with the disease. After applying several criteria, 320 SNPs were selected from the microarrays and individually genotyped in a first and independent Spanish Caucasian replication cohort. The 8 most significant SNPs validated in this cohort were also genotyped in a second US Caucasian replication cohort for confirmation. The most significant association was obtained for SNP rs3129934, which neighbors the HLA-DRB/DQA loci and validates our pooling-based strategy. The second strongest association signal was found for SNP rs1327328, which resides in an unannotated region of chromosome 13 but is in linkage disequilibrium with nearby functional elements that may play important roles in disease susceptibility. This region of chromosome 13 has not been previously identified in MS linkage genome screens and represents a novel risk locus for the disease.
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“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 [34]
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Metadata
- Authors
- Comabella, M., Craig, D. W., Camiña-Tato, M., Morcillo, C., Lopez, C., Navarro, A., Rio, J., BiomarkerMS Study Group, Montalban, X., & Martin, R.
- Affiliations
- Vall d'Hebron Hospital Universitari (ES)
- Translational Genomics Research Institute (US)
- Universitat Pompeu Fabra (ES)
- Institució Catalana de Recerca i Estudis Avançats (ES)
- National Institutes of Health (US)
- Corresponding author
- Comabella, Manuel
- Venue
- PLoS ONE
- Publisher
- Public Library of Science (PLoS)
- Published
- 2008-10-22
- Volume
- 3
- Issue
- 10
- Pages
- e3490
- ISSN
- 1932-6203 (ISSN-L)
- PMC
- PMC2566815
- OpenAlex
- W2105655586
- Cited by
- 105
- References
- 23
- Citations by year
- 2025: 1 · 2024: 2 · 2023: 2 · 2022: 2 · 2021: 3 · 2020: 3 · 2019: 5 · 2018: 6 · 2017: 3 · 2016: 5 · 2015: 5 · 2014: 8 · 2013: 15 · 2012: 9
- FWCI
- 8.54
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- PLoS ONE (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Figshare (submittedVersion, cc-by)
- Topics
- Health Sciences › Medicine › Clinical Neurology › Multiple Sclerosis Research Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Keywords
- multiple sclerosis, genetic susceptibility, single nucleotide polymorphisms, linkage disequilibrium, replication cohort
- MeSH terms
- Chromosomes, Human, Pair 13, Genotype, HLA-DQ Antigens, HLA-DR Antigens, Humans, Multiple Sclerosis, Cohort Studies, Linkage Disequilibrium, Genome, Human, Genetic Predisposition to Disease, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, White People, Genome-Wide Association Study
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