title: Genetic variants of SNCA and LRRK2 genes are associated with sporadic PD susceptibility: a replication study in a Taiwanese cohort.
abstract: BACKGROUND
  Parkinson's disease (PD) is one of the most prevalent age-related neurodegenerative diseases and usually refers to a complex disorder with multiple genetic and environmental factors influencing disease risk. We here performed a gene-based case-control association study to scrutinize whether genetic variants in SNCA and LRRK2 genes could predispose to sporadic, late-onset form of PD in Taiwanese population.
  
  
  METHODS
  17 Single Nucleotide Polymorphisms (SNPs) markers located within SNCA gene as well as the 16 SNP markers within LRRK2 gene were chosen for genotyping and evaluated their haplotype structure in a cohort of sporadic PD patients and control individuals.
  
  
  RESULTS
  This study showed that two SNPs near the promoter region (rs2301134 and rs2301135) of SNCA gene gave the greatest evidence for an association with PD (p ≤ 0.01) and a haplotype block with two SNPs in the 3' UTR (rs356221 and rs11931074) revealed another evidence of association (p ≤ 0.02). For the LRRK2 gene, only R1628P variants of total 16 SNPs giving a marginal significant association with PD across the whole gene (p = 0.0058) and no haplotype block was constructed. Many genetic variants (A419V, I1122V, R1441C, R1441G, R1441H, Y1699C, M1869V, M1869T, I2012T, G2019S, and I2020T) from previous reports were not detected in our cohort.
  
  
  CONCLUSIONS
  We have replicated a population-based PD association study in a collection of 626 cases and 473 control subjects and confirm that genetic variants of both SNCA and LRRK2 genes are associated with susceptibility to sporadic PD but in a different distribution.
authors.affiliation: Human Molecular Genetics Laboratory, Department of Medical Research, Chang Gung Memorial Hospital and Chang Gung University, Kweishan, Taoyuan, Taiwan.
authors.forename: Yah-Huei
authors.initials: YH
authors.lastname: Wu-Chou
authors.forename: Ying-Ting
authors.initials: YT
authors.lastname: Chen
authors.forename: Tu-Hsueh
authors.initials: TH
authors.lastname: Yeh
authors.forename: Hsiu-Chen
authors.initials: HC
authors.lastname: Chang
authors.forename: Yi-Hsin
authors.initials: YH
authors.lastname: Weng
authors.forename: Szu-Chia
authors.initials: SC
authors.lastname: Lai
authors.forename: Chia-Ling
authors.initials: CL
authors.lastname: Huang
authors.forename: Rou-Shayn
authors.initials: RS
authors.lastname: Chen
authors.forename: Ying-Zu
authors.initials: YZ
authors.lastname: Huang
authors.forename: Chiung-Chu
authors.initials: CC
authors.lastname: Chen
authors.forename: June
authors.initials: J
authors.lastname: Hung
authors.forename: Wen-Li
authors.initials: WL
authors.lastname: Chuang
authors.forename: Wey-Yil
authors.initials: WY
authors.lastname: Lin
authors.forename: Chien-Hsiun
authors.initials: CH
authors.lastname: Chen
authors.forename: Chin-Song
authors.initials: CS
authors.lastname: Lu
mesh_terms: D000368:Aged; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D013624:Taiwan; D051844:alpha-Synuclein / Q000235:genetics*
chemical_list: C497604:SNCA protein, human; D051844:alpha-Synuclein; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases