Susceptibility and outcome in MS - Associations with polymorphisms in pigmentation-related genes

被引：74

作者：

Partridge, JM

Weatherby, SJM

Woolmore, JA

Highland, DJ

Fryer, AA

Mann, CLA

Boggild, MD

Ollier, WER

Strange, RC

Hawkins, CP

机构：

[1] Keele Univ, Sch Med, Univ Hosp N Staffordshire, Human Genom Res Grp,Inst Sci & Technol Med, Stoke On Trent ST4 7LN, Staffs, England

[2] Keele Univ, Sch Med, Univ Hosp N Staffordshire, Keele Multiple Sclerosis Res,Dept Neurol, Stoke On Trent ST4 7LN, Staffs, England

[3] Univ Manchester, Arthrit Res Campaign Unit, Manchester M13 9PL, Lancs, England

[4] Walton Ctr Neurol & Neurosurg, Liverpool, Merseyside, England

来源：

NEUROLOGY | 2004年 / 62卷 / 12期

关键词：

D O I：

10.1212/WNL.62.12.2323

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Multiple sclerosis ( MS) risk is determined by environment and genes. The authors investigated in 419 cases and 422 controls if polymorphism in the vitamin D receptor (VDR), melanocortin-1 receptor (MC1R), and tyrosinase (TYR) genes is linked with MS risk and outcome. VDR ff was associated with reduced ( odds ratio [ OR] = 0.59) and MC1R His(294)-encoding alleles with increased ( OR = 2.21) risk. MC1R Glu(84)/Glu(84) was linked with disability ( OR = 5.65). These preliminary data suggest a role for these genes in MS pathogenesis.

引用

页码：2323 / 2325

页数：3

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