Lack of association between ATP13A2 Ala746Thr variant and Parkinson's disease in Han population of mainland China.
ATP13A2 (PARK9) mutations are related to Kufor-Rakeb syndrome (KRS). We performed genetic analysis of the Ala746Thr variant in an independent cohort of the patients with PD and healthy controls from mainland China. The Ala746Thr variant was present in 1/532 (0.19%) of PD compared with 1/480 (0.21%) of healthy controls (odds ratio=0.90, 95% CI 0.06, 14.39, P=1.00). The two subjects carried the heterozygous genotype. Subset analysis in the group </=50 years of age revealed a prevalence of 0.7% in PD compared with 0% in healthy controls and in the group >50 years of age showed 0% in PD versus 0.3% in healthy controls. We did not observe a significant association between Ala746Thr and Parkinson's disease in Han Chinese population, even after stratification by age at onset. The results suggested that Ala746Thr variant was not a major susceptible factor for PD in Han Chinese people.
Department of Neurology and Institute of Neurology, Rui Jin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
Qing-Zhou
QZ
Fei
Li
L
Cao
Qin
Q
Xiao
Ting
T
Zhang
Lan
L
Zheng
Xi-Jin
XJ
Wang
Gang
G
Wang
Hai-Yan
HY
Zhou
Ying
Y
Wang
Sheng-Di
SD
Chen
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People; D002681:China; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D006180:Proton-Translocating ATPases / Q000235:genetics*; D055815:Young Adult
C514983:ATP13A2 protein, human; D006180:Proton-Translocating ATPases