From GWAS to clinical utility in Parkinson's disease.

摘要

The discovery of the first monogenic form of Parkinson's disease in 1997 dismantled the long-held dogma about the disease being a largely non-hereditary disorder, and was followed by the identification of additional Parkinson's disease genes and gene loci in quick succession. It soon became obvious, however, that all known genes collectively explained only a small portion of cases, establishing the disease as a member of the family of complex diseases. Unlike in monogenic disorders (rare monogenic Parkinson's disease), in which a single mutation is the cause, in complex diseases both rare variants and several common single-nucleotide polymorphisms (SNPs) are thought to confer risk for disease (common idiopathic Parkinson's disease). In the past few years, genome-wide association studies (GWAS) have identified such genetic risk factors.