LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease†

摘要: The study of large multigenerational pedigrees has yielded five genes that underlie autosomal dominant (SNCA, LRRK2) or recessive (PARK2 [parkin], PINK1, PARK7 [DJ-1]) forms Parkinson’s disease (PD).1 Of these genes, mutations in LRRK2 are the most prevalent patients with PD European origin.1 However, much less is known about spectrum and frequency other populations, including Asians. Furthermore, many reported, thus far, have not yet been shown to segregate assayed a number control subjects, uncertain pathogenicity. Addressing gaps knowledge important on both clinical grounds (e.g., genetic testing counseling) for understanding molecular mechanisms involved LRRK2-related PD. In addition alone sufficient cause disease, two common nonsynonymous single nucleotide polymorphisms (SNPs) within (G2385R R1628P), specific Asian reported associate risk.2,3 Given limited risk factors identified date, this represents potentially major finding. burden proof incumbent case-control association studies necessitates such findings be rigorously replicated multiple datasets. We conducted comprehensive screen coding region Japanese cohort familial examined putative pathogenic alleles sample. We also performed meta-analysis reporting data G2385R.