长ATXN2 CAG重复序列长度与肌萎缩侧索硬化症风险增加的关联。
Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis.
作者信息
Daoud Hussein, Belzil Véronique, Martins Sandra, Sabbagh Mike, Provencher Pierre, Lacomblez Lucette, Meininger Vincent, Camu William, Dupré Nicolas, Dion Patrick A, Rouleau Guy A
机构信息
Centre for Excellence in Neuromics, CHUM Research Center, Université de Montréal, 2099 Alexandre De-Seve St, Montreal, QC H2L 2W5, Canada.
出版信息
Arch Neurol. 2011 Jun;68(6):739-42. doi: 10.1001/archneurol.2011.111.
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.
目的
分析一组肌萎缩侧索硬化症（ALS）患者和健康对照者中ataxin 2（ATXN2）基因的CAG重复序列长度。最近有报道称，ATXN2基因的大（CAG）（n）等位基因（27 - 33次重复）与ALS风险增加相关。
设计
病例对照研究。
地点
法国和加拿大魁北克。
参与者
共556例ALS病例患者和471名健康对照者；两组参与者均为法国或法裔加拿大人。
结果
我们在法国和法裔加拿大ALS人群中观察到ATXN2高长度等位基因（≥29次CAG重复）与ALS之间存在显著关联。此外，我们在家族性和散发性ALS病例中均发现了2型脊髓小脑共济失调致病性多聚谷氨酰胺扩展（≥32次CAG重复）。
结论
总体而言，我们的研究结果支持ATXN2高长度重复序列是ALS的一个风险因素，并进一步表明2型脊髓小脑共济失调与ALS之间存在遗传联系。
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