Department of Neurology West China Hospital Sichuan University Chengdu Sichuan Province China.
Brain Behav. 2018 Feb 17;8(4):e00913. doi: 10.1002/brb3.913. eCollection 2018 Apr.
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 () 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.
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.
No significant association was found between allele A of rs9938550 and PD in the entire cohort (=.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, = .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 ( = .018), while other clinical features were similar between carriers and noncarriers.
Our results support that the 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.
帕金森病（PD）的全基因组研究表明，羟-δ-5-类固醇脱氢酶、3β-和类固醇δ异构酶 7（）基因 rs9938550 变体与 PD 风险降低之间存在显著关联。但其作用仅在白种人群中进行了讨论，且未纳入表型特征。为了研究汉族人群中与 PD 相关的新变体，我们对一个大样本进行了 rs9938550 变体的关联分析。
采用病例对照方法，对 2239 例受试者（1072 例散发性 PD 患者和 1167 例对照）进行了基因分型，并分析了遗传关联。
rs9938550 的等位基因 A 与整个队列的 PD 之间无显著关联（=0.079）。然而，与 50 岁以上的对照组相比，晚发性 PD（LOPD）中等位基因 A 的频率较低（OR=0.62，95%CI：0.45-0.85，=0.002）。与 GG 基因型相比，GA+AA 基因型的中晚期 PD 患者的统一帕金森病评定量表评分较低（=0.018），而携带者与非携带者的其他临床特征相似。
我们的结果支持 rs9938550 变体可能与胆酸生物合成有关，降低了中国患者 LOPD 的风险，并可能导致良性临床表型。
