TY - JOUR
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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U2 - 10.1177/1352458510394703
DO - 10.1177/1352458510394703
M3 - Article
C2 - 21239413
AN - SCOPUS:80053416676
SN - 1352-4585
VL - 17
SP - 634
EP - 636
JO - Multiple Sclerosis Journal
JF - Multiple Sclerosis Journal
IS - 5
ER -