Multiple Sclerosis Susceptibility-Associated SNPs Do Not Influence Disease Severity Measures in a Cohort of Australian MS Patients

被引：41

作者：

Jensen, Cathy J. ^{[1
,2
]}

Stankovich, Jim ^{[3
]}

Van der Walt, Anneke ^{[4
,5
,6
]}

Bahlo, Melanie ^{[7
]}

Taylor, Bruce V. ^{[3
]}

van der Mei, Ingrid A. F. ^{[3
]}

Foote, Simon J. ^{[3
]}

Kilpatrick, Trevor J. ^{[5
]}

Johnson, Laura J. ^{[1
]}

Wilkins, Ella ^{[1
]}

Field, Judith ^{[1
]}

Danoy, Patrick ^{[8
]}

Brown, Matthew A. ^{[8
,9
]}

Rubio, Justin P. ^{[1
]}

Butzkueven, Helmut ^{[1
,4
,6
]}

机构：

[1] Howard Florey Inst Expt Physiol & Med, Melbourne, Vic, Australia

[2] Monash Univ, Dept Physiol, Fac Med Nursing & Hlth Sci, Melbourne, Vic 3168, Australia

[3] Univ Tasmania, Menzies Res Inst, Hobart, Tas, Australia

[4] Royal Melbourne Hosp, Melbourne, Vic, Australia

[5] Univ Melbourne, Ctr Neurosci, Melbourne, Vic, Australia

[6] Box Hill Hosp, Box Hill, Vic, Australia

[7] Walter & Eliza Hall Inst Med Res, Melbourne, Vic 3050, Australia

[8] Univ Queensland, Princess Alexandra Hosp, Diamantina Inst Canc Immunol & Metab Med, Brisbane, Qld, Australia

[9] Univ Oxford, Nuffield Dept Orthopaed Surg, Botnar Res Ctr, Oxford, England

来源：

PLOS ONE | 2010年 / 5卷 / 03期

基金：

澳大利亚国家健康与医学研究理事会; 澳大利亚研究理事会;

关键词：

GENOME-WIDE ASSOCIATION; GENES; HLA; AGE; INTERLEUKIN-4; POLYMORPHISMS; DISABILITY; DIAGNOSIS; VARIANTS; HLA-DRB1;

D O I：

10.1371/journal.pone.0010003

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Recent association studies in multiple sclerosis (MS) have identified and replicated several single nucleotide polymorphism (SNP) susceptibility loci including CLEC16A, IL2RA, IL7R, RPL5, CD58, CD40 and chromosome 12q13-14 in addition to the well established allele HLA-DR15. There is potential that these genetic susceptibility factors could also modulate MS disease severity, as demonstrated previously for the MS risk allele HLA-DR15. We investigated this hypothesis in a cohort of 1006 well characterised MS patients from South-Eastern Australia. We tested the MS-associated SNPs for association with five measures of disease severity incorporating disability, age of onset, cognition and brain atrophy. We observed trends towards association between the RPL5 risk SNP and time between first demyelinating event and relapse, and between the CD40 risk SNP and symbol digit test score. No associations were significant after correction for multiple testing. We found no evidence for the hypothesis that these new MS disease risk-associated SNPs influence disease severity.

引用

页数：7

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