UMR INSERM U930, Université François-Rabelais, Tours, France; Centre SLA, Service de Neurologie et Neurophysiologie Clinique, CHRU de Tours, France.
J Neurol Sci. 2012 Jun 15;317(1-2):58-61. doi: 10.1016/j.jns.2012.02.029. Epub 2012 Mar 14.
Our objective was to investigate whether the C282Y (p.Cys 282 Tyr) and H63D (p. His 63 Asp) HFE polymorphisms were associated with sporadic amyotrophic lateral sclerosis (SALS) in the French population. We searched for a relation of HFE polymorphisms with the clinical characteristics of the disease. The HFE polymorphisms were studied in 824 patients with SALS and 583 controls. We compared the frequency of the polymorphisms between SALS and controls groups by univariate and multivariate statistics, taking into account gender, site, age-at-onset and survival. We did not observe significant difference in the frequency of H63D polymorphism between SALS and control group. We observed a significant difference for C282Y between patients and controls with a low frequency of the Y allele in patients (3.2%) compared to our control group (5.9%). Disease duration, distribution of gender, site-of-onset, age-at-onset did not differ between groups taking into account genotypes of each polymorphism. Our results in this large cohort of ALS patients indicate that H63D polymorphism is not associated with SALS in the French population. This conclusion does not exclude a weak effect of the HFE gene polymorphisms in certain ALS populations, or an effect of other rare HFE gene variants.
我们的目的是研究 C282Y（p.Cys282Tyr）和 H63D（p.His63Asp）HFE 多态性是否与法国人群中的散发性肌萎缩侧索硬化症（SALS）有关。我们研究了 HFE 多态性与疾病临床特征的关系。在 824 名 SALS 患者和 583 名对照者中研究了 HFE 多态性。通过单变量和多变量统计，考虑到性别、部位、发病年龄和生存，我们比较了 SALS 和对照组之间多态性的频率。我们未观察到 H63D 多态性在 SALS 和对照组之间的频率有显著差异。我们观察到 C282Y 在患者和对照组之间存在显著差异，患者的 Y 等位基因频率较低（3.2%），而我们的对照组为 5.9%。考虑到每种多态性的基因型，疾病持续时间、性别分布、发病部位、发病年龄在各组之间无差异。我们在这个大型 ALS 患者队列中的结果表明，H63D 多态性与法国人群中的 SALS 无关。这一结论并不排除 HFE 基因多态性在某些 ALS 人群中具有微弱的作用，或其他罕见的 HFE 基因突变的作用。
