作者: Wataru Satake , Yuko Nakabayashi , Ikuko Mizuta , Yushi Hirota , Chiyomi Ito
DOI: 10.1038/NG.485
关键词: Genetic heterogeneity 、 Population 、 Biology 、 Genome-wide association study 、 Genetic variation 、 Genetics 、 LRRK2 、 Parkinsonism 、 Locus (genetics) 、 Allele frequency
摘要: To identify susceptibility variants for Parkinson's disease (PD), we performed a genome-wide association study (GWAS) and two replication studies in total of 2,011 cases 18,381 controls from Japan. We identified new locus on 1q32 (P = 1.52 x 10(-12)) designated this as PARK16, also BST1 4p15 second risk 3.94 10(-9)). detected strong associations at SNCA 4q22 7.35 10(-17)) LRRK2 12q12 2.72 10(-8)), both which are implicated autosomal dominant forms parkinsonism. By comparing results GWAS individuals European ancestry, shared loci PD MAPT showing population differences. Our loci, show involvement parkinsonism typical suggest that differences contribute to genetic heterogeneity PD.