Evidence that allelic variants of the spinocerebellar ataxia type 2 gene influence susceptibility to multiple sclerosis

被引：18

作者：

Chataway, J

Sawcer, S

Coraddu, F

Feakes, R

Broadley, S

Jones, HB

Clayton, D

Gray, J

Goodfellow, PN

Compston, A

机构：

[1] Univ Cambridge, Addenbrookes Hosp, Neurol Unit, Cambridge CB2 2QQ, England

[2] Inst Publ Hlth, MRC, Biostat Unit, Cambridge CB2 2SR, England

[3] Univ Cambridge, Dept Genet, Cambridge CB2 3EH, England

来源：

NEUROGENETICS | 1999年 / 2卷 / 02期

关键词：

multiple sclerosis; spinocerebellar ataxia; association; heterogeneity;

D O I：

10.1007/s100480050058

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Expanded CAG trinucleotide repeats are known to be responsible for five of the autosomal dominant spinocerebellar ataxias (SCA1, SCA2, SCA3, SCA6, and SCA7). We have typed each of these repeats in 226 multiple sclerosis sibling pair families. No expanded repeats were seen, indicating an absence of SCA phenocopies in clinically defined familial multiple sclerosis, However, transmission disequilibrium testing for these repeats demonstrated significant excess transmission of the 22 repeat length allele of the SCA2 gene (P=4.4E06) in multiple sclerosis patients, This observation is consistent with pleiotropic effects of the SCA2 gene, with a non-dynamic mutation/polymorphism contributing epistatically to susceptibility in multiple sclerosis.

引用

页码：91 / 96

页数：6

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