Association of IL2RA polymorphisms with susceptibility to multiple sclerosis is not explained by missense mutations in IL2RA

Marcelo Matiello, Brian G Weinshenker, Elizabeth J. Atkinson, Janet Schaefer-Klein, Orhun H Kantarci

Research output: Contribution to journalArticle

5 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)634-636
Number of pages3
JournalMultiple Sclerosis
Volume17
Issue number5
DOIs
StatePublished - May 2011

Fingerprint

Interleukin-2 Receptor alpha Subunit
Missense Mutation
Multiple Sclerosis
Single Nucleotide Polymorphism
Exons
Genes
5' Untranslated Regions
Genome-Wide Association Study
3' Untranslated Regions
Gene Frequency
Mutation
Population

Keywords

  • Association studies
  • Gene sequencing
  • IL2RA
  • Multiple sclerosis

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Medicine(all)

Cite this

Association of IL2RA polymorphisms with susceptibility to multiple sclerosis is not explained by missense mutations in IL2RA. / Matiello, Marcelo; Weinshenker, Brian G; Atkinson, Elizabeth J.; Schaefer-Klein, Janet; Kantarci, Orhun H.

In: Multiple Sclerosis, Vol. 17, No. 5, 05.2011, p. 634-636.

Research output: Contribution to journalArticle

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