title: Association of Parkinson's disease with six single nucleotide polymorphisms located in four PARK genes in the northern Han Chinese population.
abstract: Parkinson's disease (PD) has widely been reported to be associated with mutations in the PARK genes. To investigate potential genetic risk factors for PD in a northern Han Chinese population, six single nucleotide polymorphisms (SNP) (R366W, V380L, P196S, R1628P, G2385R and R461W) located in four PARK genes were multiplex-amplified in two independent polymerase chain reaction (PCR) systems. Restriction fragment length polymorphisms (RFLP) were subsequently genotyped with Hae III endonuclease digestion in samples from 202 patients with PD and 212 control participants. High-throughput, multiplexed PCR-RFLP assays were able to accurately identify all six SNP. The genotypic frequency of G2385R in PARK8 was significantly different between the patient and control groups; however, the remaining SNP were not associated with PD. No heterogeneity was observed in the R461W site, and only one P196S site was found in the patient group. The polymorphic sites R366W and V380L and R1628P and G2385R were not in linkage disequilibrium. Carriers of 2385R presented at a higher Hoehn-Yahr stage compared to non-carriers. This study demonstrated an association of the G2385R allele with risk for PD in a northern Han Chinese population.
authors.affiliation: Department of Forensic Serology, China Medical University, 92 Beier Road, Heping District, Shenyang 110001, China.
authors.forename: Yishu
authors.initials: Y
authors.lastname: Zhou
authors.forename: Xiaoguang
authors.initials: X
authors.lastname: Luo
authors.forename: Fengrui
authors.initials: F
authors.lastname: Li
authors.forename: Xiaofei
authors.initials: X
authors.lastname: Tian
authors.forename: Lanhui
authors.initials: L
authors.lastname: Zhu
authors.forename: Yichun
authors.initials: Y
authors.lastname: Yang
authors.forename: Yan
authors.initials: Y
authors.lastname: Ren
authors.forename: Hao
authors.initials: H
authors.lastname: Pang
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000208:ethnology* / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D055815:Young Adult
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases