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

doi:10.1177/1352458510394703

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

Neurology

Research output: Contribution to journal › Article › peer-review

7 Scopus citations

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 language	English (US)
Pages (from-to)	634-636
Number of pages	3
Journal	Multiple Sclerosis Journal
Volume	17
Issue number	5
DOIs	https://doi.org/10.1177/1352458510394703
State	Published - May 2011

Keywords

Association studies
Gene sequencing
IL2RA
Multiple sclerosis

ASJC Scopus subject areas

Neurology
Clinical Neurology

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

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.",

keywords = "Association studies, Gene sequencing, IL2RA, Multiple sclerosis",

author = "Marcelo Matiello and Weinshenker, {Brian G.} and Atkinson, {Elizabeth J.} and Janet Schaefer-Klein and Kantarci, {Orhun H.}",

note = "Funding Information: This research was supported by the Mayo Clinic Neurology Department. Dr Matiello is supported by a fellowship grant from the National Multiple Sclerosis Society. ",

year = "2011",

month = may,

doi = "10.1177/1352458510394703",

language = "English (US)",

volume = "17",

pages = "634--636",

journal = "Multiple Sclerosis",

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T1 - Association of IL2RA polymorphisms with susceptibility to multiple sclerosis is not explained by missense mutations in IL2RA

AU - Matiello, Marcelo

AU - Weinshenker, Brian G.

AU - Atkinson, Elizabeth J.

AU - Schaefer-Klein, Janet

AU - Kantarci, Orhun H.

N1 - Funding Information: This research was supported by the Mayo Clinic Neurology Department. Dr Matiello is supported by a fellowship grant from the National Multiple Sclerosis Society.

PY - 2011/5

Y1 - 2011/5

N2 - 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.

AB - 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.

KW - Association studies

KW - Gene sequencing

KW - IL2RA

KW - Multiple sclerosis

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

Abstract

Keywords

ASJC Scopus subject areas

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