ABSTRACT: 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.
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.
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).
The HFE H63D polymorphism may contribute to the development of sALS in Chinese.
European Journal of Neurology 02/2011; 18(2):359-61. · 3.69 Impact Factor
ABSTRACT: Mutations in the glucocerebrosidase (GBA) gene have been implicated in the development of Parkinson's disease (PD). However, recent screenings for GBA mutations in PD subjects from different ethnic populations have yielded contradictory results.
We performed a case-control study to look for a possible association between PD and the GBA N370S allele involving 628 subjects in two separate Chinese Han populations from mainland China. All subjects were successfully genotyped by polymerase chain reaction-restriction fragment length polymorphism analysis.
A total of six patients with PD and two control subjects carried the N370S allele. Although PD cases (1.8%) had an increased frequency of N370S compared to controls (0.7%), the difference was not statistically significant (P = 0.290). However, when PD cases were stratified by age at onset, a higher frequency of N370S in late-onset PD (LOPD) cases (3.2%) compared to controls was observed.
Our results suggest that the N370S allele might be associated with LOPD in Chinese Han population and that this phenomenon should be further examined in a larger study.
European Journal of Neurology 12/2010; 17(12):1476-8. · 3.69 Impact Factor
ABSTRACT: Recent studies have implicated polymorphisms in the 3' untranslated region (3'UTR) of the alpha-synuclein (SNCA) gene in the development of Parkinson's disease (PD). Single nucleotide polymorphism (SNP) rs356165 is one of polymorphisms located in the 3'UTR and its association with PD has been reported but remains controversial. Herein, we conducted a case-control study to further evaluate the possible association between SNP rs356165 and PD in Chinese. All subjects (330 PD patients and 300 normal controls) were successfully genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. No statistically significant difference in genotype frequency between cases and controls was observed (P=0.863), suggesting no association of SNP rs356165 with PD in our population. Thus, it may be premature to conclude an association between the 3'UTR of the SNCA gene and PD, and this association should be further examined in different ethnic populations.
Neuroscience Letters 07/2010; 479(1):31-3. · 2.11 Impact Factor