Association of Long ATXN2 CAG Repeat Sizes With Increased Risk of Amyotrophic Lateral Sclerosis
Association of Long ATXN2 CAG Repeat Sizes With Increased Risk of Amyotrophic Lateral Sclerosis
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DOI：
10.1001/archneurol.2011.111
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发表时间：
2011-06-01
影响因子：
--
通讯作者：
Rouleau, Guy A.
中科院分区：
文献类型：
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作者：
Daoud, Hussein;Belzil, Veronique;Rouleau, Guy A.
Objective: To analyze the ataxin 2 (ATXN2) CAG repeat size in a cohort of patients with amyotrophic lateral sclerosis (ALS) and healthy controls. Large (CAG)(n) alleles of the ATXN2 gene (27-33 repeats) were recently reported to be associated with an increased risk of ALS.Design: Case-control study.Setting: France and Quebec, Canada.Participants: A total of 556 case patients with ALS and 471 healthy controls; both groups of participants are of French or French-Canadian origin.Results: We observed a significant association between ATXN2 high-length alleles (>= 29 CAG repeats) and ALS in French and French-Canadian ALS populations. Furthermore, we identified spinocerebellar ataxia type 2-pathogenic polyglutamine expansions (>= 32 CAG repeats) in both familial and sporadic ALS cases.Conclusions: Altogether, our findings support ATXN2 high-length repeats as a risk factor for ALS and further indicate a genetic link between spinocerebellar ataxia type 2 and ALS.
