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

Devindri Perera; Jim Stankovich; Helmut Butzkueven; Bruce V. Taylor; Simon J. Foote; Trevor J. Kilpatrick; Justin P. Rubio

doi:10.1016/j.jneuroim.2009.03.010

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

Devindri Perera
, Jim Stankovich
, Helmut Butzkueven
, Bruce V. Taylor
, Simon J. Foote
, Trevor J. Kilpatrick
, Justin P. Rubio

Department of Neuroscience

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

28 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	105-109
Number of pages	5
Journal	Journal of Neuroimmunology
Volume	211
Issue number	1-2
DOIs	https://doi.org/10.1016/j.jneuroim.2009.03.010
Publication status	Published - 25 Jun 2009

Keywords

Fine mapping
IL2RA
Multiple sclerosis
Susceptibility gene

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10.1016/j.jneuroim.2009.03.010

Cite this

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title = "Fine mapping of multiple sclerosis susceptibility genes provides evidence of allelic heterogeneity at the IL2RA locus",

abstract = "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.",

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author = "Devindri Perera and Jim Stankovich and Helmut Butzkueven and Taylor, \{Bruce V.\} and Foote, \{Simon J.\} and Kilpatrick, \{Trevor J.\} and Rubio, \{Justin P.\}",

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language = "English",

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TY - JOUR

T1 - Fine mapping of multiple sclerosis susceptibility genes provides evidence of allelic heterogeneity at the IL2RA locus

AU - Perera, Devindri

AU - Stankovich, Jim

AU - Butzkueven, Helmut

AU - Taylor, Bruce V.

AU - Foote, Simon J.

AU - Kilpatrick, Trevor J.

AU - Rubio, Justin P.

PY - 2009/6/25

Y1 - 2009/6/25

N2 - 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.

AB - 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.

KW - Fine mapping

KW - IL2RA

KW - Multiple sclerosis

KW - Susceptibility gene

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U2 - 10.1016/j.jneuroim.2009.03.010

DO - 10.1016/j.jneuroim.2009.03.010

M3 - Article

C2 - 19375175

AN - SCOPUS:67349258910

SN - 0165-5728

VL - 211

SP - 105

EP - 109

JO - Journal of Neuroimmunology

JF - Journal of Neuroimmunology

IS - 1-2

ER -

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

Abstract

Keywords

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