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Rapid screening of ATP13A2 variant with high‐resolution melting analysis
Author(s) -
Funayama Manabu,
Tomiyama Hiroyuki,
Wu RueyMeei,
Ogaki Kotaro,
Yoshino Hiroyo,
Mizuno Yoshikuni,
Hattori Nobutaka
Publication year - 2010
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.23106
Subject(s) - high resolution melt , chinese population , pathogenesis , genetics , mutation , risk factor , disease , case control study , medicine , biology , genotype , gene
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. © 2010 Movement Disorder Society.