PARK16 locus:Differential effects of the non-coding rs823114 on Parkinson's disease risk,RNA expression,and DNA methylation

• 作者: Orly Goldstein Mali Gana-Weisz Fergal Casey Hila Meltzer-Fridrich Or Yaacov Yedael Y.Waldman Dongdong Lin Yael Mordechai Jing Zhu Patrick F.Cullen Nurit Omer Tamara Shiner Avner Thaler Anat Bar-Shira Anat Mirelman Sally John Nir Giladi Avi Orr-Urtreger
• 来源期刊: 遗传学报
• 年，卷（期）: 2021,（4）
• 所属期刊栏目: Letter to the Editor
• 页码范围: 341-345
• 页数: 5页
• 语种: 英文

摘要

Understanding the genetic basis of Parkinson's disease (PD) has dramatically progressed since the identification of the first genetic mutation in alpha-synuclein,to become a highly complex model of oligogenic disease (Lubbe et al.,2016;Keogh et al.,2018).There are more than 90 loci in the genome significantly associated with PD (Nalls et al.,2019),but more interestingly,most of them are with incomplete penetrance and with only small to moderate risk levels,suggesting that other genetic and environmental modifiers in-fluence PD penetrance or disease phenotypes.The PARK16 locus was originally reported as a 170 kb interval on chromosome 1,harboring several single-nucleotide-variants (SNVs) associated with PD in a genome-wide association study (GWAS) in a Japanese pop-ulation (Satake et al.,2009).Since then,the importance of the PARK16 locus in different world-wide populations was reported,either as a risk or a protective locus (Simon-Sanchez et al.,2009;Liu et al.,2011;Ramirez et al.,2011;Gan-Or et al.,2012;Nalls et al.,2014;Vacic et al.,2014).