H63D polymorphism in the hemochromatosis gene is associated with sporadic amyotrophic lateral sclerosis in China

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.