当前位置: X-MOL 学术Neurobiol. Aging › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Mutation Analysis of TMEM Family Members for Early-onset Parkinson’s Disease in Chinese Population
Neurobiology of Aging ( IF 4.2 ) Pub Date : 2020-11-01 , DOI: 10.1016/j.neurobiolaging.2020.11.005
ChunYu Li 1 , RuWei Ou 1 , YongPing Chen 1 , XiaoJing Gu 1 , QianQian Wei 1 , Bei Cao 1 , LingYu Zhang 1 , YanBing Hou 1 , KunCheng Liu 1 , XuePing Chen 1 , Wei Song 1 , Bi Zhao 1 , Ying Wu 1 , Yi Liu 2 , HuiFang Shang 1
Affiliation  

Members of the transmembrane (TMEM) protein family have been identified to be associated with Parkinson's disease (PD) and other neurodegenerative disorders. However, most studies were based on the European-ancestry population and were still awaiting replications. Here, we aimed to systematically evaluate the associations of TMEMs with PD in a large Chinese early-onset PD (EOPD, age at onset <50 years) cohort. We identified rare variants (minor allele frequency <0.01) in 743 unrelated EOPD patients using whole-exome sequencing and evaluated the association between variants and EOPD at allele and gene levels. Totally 45 rare variants were identified in 6 TMEM protein family members. At allele level, p.176 K>E in TMEM175 and p.33P>R in TMEM163 were significantly associated with PD. Gene-based burden analysis showed a clear enrichment of TMEM163 variants in EOPD. Our work identifies 2 novel rare variants and TMEM163 as potential risk factors for PD provide a better understanding of the genetic involvement of TMEM protein family members in EOPD and broadens the current mutation spectrum of PD.
更新日期:2020-11-01
down
wechat
bug