CHIN-HSIEN LINChen M.-L.Tai Y.-C.Yu C.-Y.RUEY-MEEI WU2020-11-032020-11-0320131552-4841https://www.scopus.com/inward/record.uri?eid=2-s2.0-84887123657&doi=10.1002%2fajmg.b.32188&partnerID=40&md5=e74936e9f58cd3a58b849ec121d7e5ebhttps://scholars.lib.ntu.edu.tw/handle/123456789/520064Recent genome-wide association studies of Parkinson's disease (PD) in Caucasian populations have identified two new susceptibility loci, GAK and HLA-DRA; however, only limited information exists regarding the involvement of these genes in PD risk in other ethnic groups. Here, we examined whether these genetic effects were consistent in a Taiwanese PD population. In a total 900 participants, including 448 PD patients and 452 control subjects, we genotyped the rs11248051 and rs1564282 variants of GAK, and the rs3129882 variant of HLA-DRA. Logistic regression analysis was used to test for associations between genotype and PD under an additive model, adjusting for age and gender. Subjects with CT/TT genotypes of GAK rs11248051 had a modestly increased association with PD compared to those with CC genotype (OR=1.37; 95% CI=1.09, 1.87; P=0.03). Carriers and non-carriers exhibited indistinguishable phenotypes in regards to clinical presentation and onset age. We observed no association between PD risk and GAK rs1564282 or HLA-DRA rs3129882 variant. The different genetic effects between Taiwanese and Caucasian populations may come from differences in population structure and geographic region-specific genetic-environmental interactions. In conclusion, our results supported the association between the rs11248051 variant in GAK and PD risk in a Taiwanese population. Future functional studies of GAK in neuronal degeneration are warranted to unravel its role in the pathogenetic mechanism of PD. ? 2013 Wiley Periodicals, Inc.[SDGs]SDG3GAK protein; HLA DR antigen; protein; unclassified drug; adolescent; adult; aged; article; controlled study; female; gene frequency; genetic analysis; genetic association; genetic susceptibility; genetic variability; genotyping technique; human; major clinical study; male; Parkinson disease; priority journal; Taiwan; GAK; GWAS; HLA; Parkinson's disease; Taiwanese; Adolescent; Adult; Aged; Aged, 80 and over; Female; Genetic Predisposition to Disease; HLA-DR alpha-Chains; Humans; Intracellular Signaling Peptides and Proteins; Male; Middle Aged; Odds Ratio; Parkinson Disease; Polymorphism, Single Nucleotide; Protein-Serine-Threonine Kinases; Risk Factors; Taiwan; Young Adultjournal article10.1002/ajmg.b.32188240391602-s2.0-84887123657