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Abstract: 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, padjust = .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 (padjust = .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. [ABSTRACT FROM AUTHOR]

Stroke is a common disease which has serious impact on human health in modern society. It has complex pathogenesis and wide - ranging influencing factors. Accompanied with the development of molecular genetics, a number of single nucleotide polymorphisms (SNPs) have been found to be closely related to the incidence of stroke in case-control studies on the correlation between genes and stroke by using molecular biology technologies. In order to have a better understanding on the correlation between gene polymorphism and stroke, this summary presents a review of literatures reported at home and abroad over the past year on the genetics of stroke. [ABSTRACT FROM AUTHOR]

Objective: Investigate the association between genetic polymorphism of DSBs repair gene XRCC4, RAD51 and susceptibility to esophageal cancer (EC)., Methods: A hospital based case-control study with 123 EC cases and 61 controls in a Chinese population was conducted. PCR-RFLP was applied to investigate the genotype of XRCC4 promoter G-1394T (rs6869366) and RAD51-G135C and then statistical analysis was conducted by calculating the adjusted odds ratios (OR) and 95% confidence intervals (95% CI)., Results: A significant difference of XRCC4-1394 polymorphism was observed between EC cases and controls (P < 0.05). Carriers of the XRCC4 rs6869366 G allele (GC+GG) were at a higher risk of developing EC with the TT genotype as reference (OR = 3.022, 95% CI = 1.487-6.142, P = 0.002). When GG served as the reference group of RAD51-G135C allele, variant genotype (GC and CC) had a significant increased risk of lung cancer (OR = 3.643, 95% CI = 1.501-8. 842, P < 0.05)., Conclusion: Our findings indicated that genetic variants in DNA repair pathways may be involved in esophageal tumorigenesis. XRCC4 G-1394T and RAD51-G135C conferred risk for the process of developing EC.