Abstract
Genome-wide association studies have identified an association between two intronic single nucleotide polymorphisms (SNPs), rs12722489 and rs2104286, in the interleukin-2 receptor alpha-chain gene (IL2RA) and susceptibility to multiple sclerosis (MS). We studied these SNPs in association with susceptibility to and severity of MS in a population-based cohort of 220 patients from Olmsted County, Minnesota, compared with 442 matched controls. We sequenced the exons, splice sites and 5' and 3' untranslated regions in 27 randomly selected MS patients (powered for allele frequency≥0.04) to search for mutations. No novel missense mutation was identified. Two patients (7.5%) had an exon 2 SNP (rs4308625) and two patients had an exon 4 SNP (rs2228149), both synonymous.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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3' Untranslated Regions
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5' Untranslated Regions
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Case-Control Studies
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Chi-Square Distribution
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DNA Mutational Analysis
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Disability Evaluation
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Exons
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Female
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Gene Frequency
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Genetic Predisposition to Disease
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Haplotypes
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Humans
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Interleukin-2 Receptor alpha Subunit / genetics*
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Linear Models
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Linkage Disequilibrium
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Male
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Minnesota
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Multiple Sclerosis / diagnosis
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Multiple Sclerosis / genetics*
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Multiple Sclerosis / immunology
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Mutation, Missense*
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Odds Ratio
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Phenotype
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Polymorphism, Single Nucleotide*
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Proportional Hazards Models
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RNA Splice Sites
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Risk Assessment
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Risk Factors
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Severity of Illness Index
Substances
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3' Untranslated Regions
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5' Untranslated Regions
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IL2RA protein, human
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Interleukin-2 Receptor alpha Subunit
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RNA Splice Sites