title: Female genetic distribution bias in mitochondrial genome observed in Parkinson's Disease patients in northern China.
abstract: Genetic polymorphisms associated with susceptibility to Parkinson's disease (PD) have been described in mitochondrial DNA (mtDNA). To explore the potential contribution of mtDNA mutations to the risk of PD in a Chinese population, we examined the linkage relationship between several single nucleotide polymorphisms (SNPs) and haplotypes in mtDNA and PD. We genotyped 5 SNPs located on coding genes using PCR-RFLP analysis. A specific allele 10398G demonstrated an increased risk of PD (OR 1.30; 95% CI 0.95-1.76; P = 0.013). After stratification by gender, the increased risk appeared to be more significant in females (OR 1.91; 95% CI 1.16-3.16; P = 0.001). But the significance only appeared in females under Bonferroni correction. No significant differences were detected for other SNPs (T4336C, G5460A, G9055A, and G13708A). Individual haplotype composed of 4336T-5460G-9055G-10398A-13708G was found to be associated with protective effect regarding PD (P = 0.0025). The haplotypes 4336T-5460G-9055G-10398G-13708G and 4336T-5460G-9055G-10398A-13708G were more significantly associated in females (P = 0.0036 for risk and P = 0.0006 for protective effects). These data suggest that the A10398G and two haplotypes coupled with 10398A or 10398G are closely associated with susceptibility to PD in a northern Chinese population. This association demonstrated a female genetic distribution bias.
authors.affiliation: School of Forensic Medicine, China Medical University, No.77 Puhe Road, Shenyang North New Area, Shenyang 110122, P.R. China.
authors.forename: Qiaohong
authors.initials: Q
authors.lastname: Chu
authors.affiliation: Department of Neurology, 1st Affiliated Hospital of China Medical University, Shenyang 110001, P.R. China.
authors.forename: Xiaoguang
authors.initials: X
authors.lastname: Luo
authors.affiliation: School of Forensic Medicine, China Medical University, No.77 Puhe Road, Shenyang North New Area, Shenyang 110122, P.R. China.
authors.forename: Xiaoni
authors.initials: X
authors.lastname: Zhan
authors.affiliation: Department of Neurology, 1st Affiliated Hospital of China Medical University, Shenyang 110001, P.R. China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Ren
authors.affiliation: School of Forensic Medicine, China Medical University, No.77 Puhe Road, Shenyang North New Area, Shenyang 110122, P.R. China.
authors.forename: Hao
authors.initials: H
authors.lastname: Pang
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D002681:China; D004272:DNA, Mitochondrial / Q000235:genetics*; D042967:Electron Transport Complex I / Q000235:genetics; D005260:Female; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D060885:Multiplex Polymerase Chain Reaction; D016017:Odds Ratio; D010300:Parkinson Disease / Q000235:genetics* / Q000473:pathology; D020641:Polymorphism, Single Nucleotide; D012306:Risk; D012737:Sex Factors
chemical_list: D004272:DNA, Mitochondrial; D042967:Electron Transport Complex I; C114961:MT-ND3 protein, human