在中国，血色病基因中的 H63D 多态性与散发性肌萎缩侧索硬化症有关。
H63D polymorphism in the hemochromatosis gene is associated with sporadic amyotrophic lateral sclerosis in China.
机构信息
Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan Province.
Department of Neurology, First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong Province.
出版信息
Eur J Neurol. 2011 Feb;18(2):359-361. doi: 10.1111/j.1468-1331.2010.03158.x.
BACKGROUND AND PURPOSE
The H63D polymorphism in the hemochromatosis (HFE) gene has been reported as a risk factor for amyotrophic lateral sclerosis (ALS) in Europe and America, but no data have been reported for Asia. Here, we investigated the possible association between H63D and sporadic ALS (sALS) in a Chinese Han population.
METHODS
A total of 195 individuals with sALS from three centers in China and 405 unrelated healthy controls were recruited. All subjects were genotyped by restriction fragment length polymorphism (RFLP) analysis.
RESULTS
Sporadic ALS was significantly related to the H63D polymorphism in heterozygous carriers (odds ratio 3.10, 95%CI: 1.49-6.47, P=0.002).
CONCLUSIONS
The HFE H63D polymorphism may contribute to the development of sALS in Chinese.
背景与目的
载脂蛋白 H63D 多态性与欧洲和美国的肌萎缩侧索硬化症（ALS）的风险因素有关，但亚洲尚无相关数据报道。在此，我们研究了载脂蛋白 H63D 多态性与中国汉族人群散发性 ALS（sALS）之间的可能相关性。
方法
共招募了来自中国三个中心的 195 例 sALS 患者和 405 例无关的健康对照者。所有受试者均通过限制性片段长度多态性（RFLP）分析进行基因分型。
结果
杂合子携带者的 sALS 与载脂蛋白 H63D 多态性显著相关（比值比 3.10，95%CI：1.49-6.47，P=0.002）。
结论
载脂蛋白 HFE H63D 多态性可能导致中国人 sALS 的发生。
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