Comprehensive Analysis of LIN28A in Chinese Patients With Early Onset Parkinson’s Disease

Frontiers in Genetics

关键词: LIN28A;    early onset Parkinson’s disease;    rare variant;    screening;    burden analysis;   

DOI  :  10.3389/fgene.2021.740096

来源: DOAJ

【 摘 要 】

A loss-of-function variant in Lin-28 Homolog A gene (LIN28A p. R192G, rs558060339) has been identified in two East Asian ancestry patients with early-onset PD (EOPD). Functional studies revealed that such a variant could lead to developmental defects and PD-related phenotype, and the phenotypes could be rescued after correction of the variant. The aim of the study was to screen the variants of LIN28A in Chinese patients with EOPD. A total of 682 EOPD patients were sequenced with whole exome sequencing and the coding and flanking region of LIN28A were analyzed. We identified a rare coding variant, p. P182L, of LIN28A in a Chinese patient with EOPD. Moreover, we also found a 3′-UTR polymorphism (rs4659441) to be associated with an increased risk for PD. However, our rare variant burden analysis did not support a role for LIN28A as a major causal gene for PD.

【 授权许可】

Unknown