Analysis of rare variants of autosomal-dominant genes in a Chinese population with sporadic Parkinson's disease.

ABSTRACT:

Background

To date, several studies have suggested that genes involved in monogenic forms of Parkinson's disease (PD) contribute to unrelated sporadic cases, but there is limited evidence in the Chinese population.

Methods

We performed a systematic analysis of 12 autosomal-dominant PD (AD-PD) genes (SNCA, LRRK2, GIGYF2, VPS35, EIF4G1, DNAJC13, CHCHD2, HTRA2, NR4A2, RIC3, TMEM230, and UCHL1) using panel sequencing and database filtration in a case-control study of a cohort of 391 Chinese sporadic PD patients and unrelated controls. We evaluated the association between candidate variants and sporadic PD using gene-based analysis.

Results

Overall, 18 rare variants were discovered in 18.8% (36/191) of the index patients. In addition to previously reported pathogenic mutat

SUBMITTER: Zheng R 

PROVIDER: S-EPMC7549569 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature