The association between HSD3B7 gene variant and Parkinson's disease in ethnic Chinese.

Objectives: Studies at the genomewide level of Parkinson's disease (PD) suggested a significant association between the Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta isomerase 7 ( HSD3B7 ) gene rs9938550 variant and a decreased risk for PD. But its effect has only been discussed in Caucasian populations, and no phenotypic characteristics were included. To investigate the novel variant for PD in Chinese Han populations, we performed an association analysis of rs9938550 variant in a large cohort.

Methods: Using a case-control methodology, a total of 2,239 subjects (1,072 sporadic patients with PD and 1,167 control) were genotyped and the genetic association was analyzed.

Results: No significant association was found between allele A of rs9938550 and PD in the entire cohort ( p  =   .079). However, the frequency of allele A was lower in late-onset PD (LOPD) as compared with controls older than 50 years (OR = 0.62, 95% CI: 0.45-0.85, p adjust  = .002). Relatively lower Unified Parkinson's Disease Rating Scale scores were demonstrated in mid- to late-stage PD with GA + AA genotypes than GG genotype ( p adjust  = .018), while other clinical features were similar between carriers and noncarriers.

Conclusions: Our results support that the HSD3B7 rs9938550 variant, which is likely linked to bile acid biosynthesis, reduces the risk of LOPD in Chinese patients and might induce a benign clinical performance.