单核苷酸多态性
表达数量性状基因座
全基因组关联研究
遗传学
生物
鉴定(生物学)
遗传关联
疾病
帕金森病
基因组
基因
数量性状位点
等位基因
SNP公司
候选基因
单倍型
医学
基因型
病理
植物
作者
Xiaohui Qiu,Honghu He,Yue Huang,Jin Wang,Yang Xiao
标识
DOI:10.1016/j.neulet.2020.135315
摘要
N6-methyladenosine (m6A)-associated single nucleotide polymorphisms (SNPs) play a vital role in several neurological diseases. However, little is known about the relationship between m6A modification and Parkinson’s disease (PD). We investigated potential functional variants of m6A-SNPs from large-scale genome-wide association studies (GWAS) in PD patients. The candidate m6A-SNPs were further assessed by expression quantitative trait loci (eQTL) analysis and differential gene expression analysis. We identified 12 m6A-SNPs that were significantly associated with PD risk. Further, eQTL and expression analyses identified five of these m6A-SNPs (rs75072999 of GAK, rs1378602, rs4924839 and rs8071834 of ALKBH5, and rs1033500 of C6orf10) that were associated with altered gene expression in PD. Our results suggest that m6A-SNPs could play a role in PD risk. Future studies are needed to confirm these PD-associated m6A-SNPs and elucidate their mechanisms.
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