Fine mapping of multiple sclerosis susceptibility genes provides evidence of allelic heterogeneity at the IL2RA locus

被引：28

作者：

Perera, Devindri ^{[2
]}

Stankovich, Jim ^{[2
]}

Butzkueven, Helmut ^{[3
]}

Taylor, Bruce V. ^{[2
]}

Foote, Simon J. ^{[2
]}

Kilpatrick, Trevor J. ^{[3
,4
]}

Rubio, Justin P. ^{[1
]}

机构：

[1] Univ Melbourne, Neurogenet Lab, Florey Neurosci Inst, Melbourne, Vic 3010, Australia

[2] Univ Tasmania, Menzies Res Inst, Hobart, Tas 7000, Australia

[3] Royal Melbourne Hosp, Parkville, Vic 3050, Australia

[4] Univ Melbourne, Ctr Neurosci, Melbourne, Vic 3010, Australia

来源：

JOURNAL OF NEUROIMMUNOLOGY | 2009年 / 211卷 / 1-2期

基金：

澳大利亚国家健康与医学研究理事会;

关键词：

Multiple sclerosis; Fine mapping; Susceptibility gene; IL2RA; DIAGNOSTIC-CRITERIA; ASSOCIATION; GUIDELINES; REGION; MAP;

D O I：

10.1016/j.jneuroim.2009.03.010

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Multiple sclerosis (MS) is a genetically complex autoimmune disease. To dissect further the involvement of four recent identified MS susceptibility genes (KIAA0350, IL2RA, RPL5 and CD58) in disease pathogenesis, we genotyped 94 haplotype-tagging single nucleotide polymorphisms (SNPs) from these loci in 1146 MS cases and 1309 controls. Seven newly-typed SNP variants were nominally associated with risk of MS, and one SNP (rs791589) in the first intron of the IL2RA gene remained associated after adjustment for rs2104286 genotype, a previously reported SNP association. These data provide further evidence of allelic heterogeneity at the IL2RA locus and point to the existence of at least two independent MS susceptibility alleles. (C) 2009 Elsevier B.V. All rights reserved.

引用

页码：105 / 109

页数：5

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