Rapid screening of ATP13A2 variant with high-resolution melting analysis.
Several genetic and environmental factors are involved in the pathogenesis of Parkinson's disease (PD). Recently, a novel variant of ATP13A2 (p.A746T) responsible for PARK9 was reported as a risk factor for PD in the Han-Chinese population. To investigate the role of this variant in Japanese PD patients, we examined 917 Japanese PD patients (871 index cases) and 190 controls by high-resolution melting curve analysis. We detected heterozygous p.A746T variant in a single patient with sporadic PD and a single control subject. These results suggest that ATP13A2 p.A746T variant is unlikely to play a role as a common risk factor or a pathogenic mutation for PD at least in Japanese. Our data on Japanese differ from those reported recently on Han-Chinese. Further studies are needed to confirm conclusions on roles of ATP13A2 variant in Asians or other populations.
Funayama
Manabu
M
Department of Neurology, Juntendo University School of Medicine, Bunkyo-ku, Tokyo, Japan.
Tomiyama
Hiroyuki
H
Wu
Ruey-Meei
RM
Ogaki
Kotaro
K
Yoshino
Hiroyo
H
Mizuno
Yoshikuni
Y
Hattori
Nobutaka
N
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000208:ethnology; D003431:Cross-Cultural Comparison; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D014644:Genetic Variation / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007564:Japan / Q000453:epidemiology / Q000208:ethnology; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D006180:Proton-Translocating ATPases / Q000235:genetics*; D055815:Young Adult
C514983:ATP13A2 protein, human; D006180:Proton-Translocating ATPases