Department of Neurology, Rudolph Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, the Netherlands.
Neurobiol Aging. 2013 May;34(5):1517.e5-7. doi: 10.1016/j.neurobiolaging.2012.07.020. Epub 2012 Oct 11.
The H63D polymorphism in HFE has frequently been associated with susceptibility to amyotrophic lateral sclerosis (ALS). Regarding the role of HFE in iron homeostasis, iron accumulation is considered an important process in ALS. Furthermore, novel therapeutic strategies are being developed targeting this process. Evidence for this genetic association is, however, limited to several small studies. For this reason we studied the H63D polymorphism in a large European cohort including 3962 ALS patients and 5072 control subjects from 7 countries. After meta-analysis of previous studies and current findings we conclude that the H63D polymorphism in HFE is not associated with susceptibility to ALS, age at disease onset, or survival.
HFE 中的 H63D 多态性与肌萎缩侧索硬化症（ALS）的易感性密切相关。鉴于 HFE 在铁平衡中的作用，铁积累被认为是 ALS 中的一个重要过程。此外，目前正在开发针对该过程的新治疗策略。然而，这种遗传关联的证据仅限于少数几项小型研究。出于这个原因，我们在一个包括来自 7 个国家的 3962 名 ALS 患者和 5072 名对照的大型欧洲队列中研究了 HFE 中的 H63D 多态性。对先前研究和当前发现的荟萃分析后，我们得出结论，HFE 中的 H63D 多态性与 ALS 的易感性、发病年龄或生存无关。
