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

作者：Jensen Cathy J^*; Stankovich Jim; Van der Walt Anneke; Bahlo Melanie; Taylor Bruce V; van der Mei Ingrid A F; Foote Simon J; Kilpatrick Trevor J; Johnson Laura J; Wilkins Ella; Field Judith; Danoy Patrick; Brown Matthew A; Rubio Justin P; Butzkueven Helmut

来源：PLos One, 2010, 5(3): e10003.

DOI：10.1371/journal.pone.0010003

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.

• 出版日期2010-4-2
• 单位河北医科大学