表达数量性状基因座
全基因组关联研究
遗传关联
帕金森病
疾病
黑质
生物
转录组
遗传学
基因分型
数量性状位点
基因组学
单核苷酸多态性
医学
基因
基因表达
基因组
内科学
基因型
作者
Anni Moore,Peter Wild Crea,Mary B. Makarious,Sara Bandrés‐Ciga,Cornelis Blauwendraat,Mónica Díez-Fairén
标识
DOI:10.1016/j.neurobiolaging.2023.11.001
摘要
Parkinson’s disease (PD) is a progressive neurological disorder caused by both genetic and environmental factors. An association has been described between KTN1 genetic variants and changes in its expression in the putamen and substantia nigra brain regions and an increased risk for PD. Here, we examine the link between PD susceptibility and KTN1 using individual-level genotyping data and summary statistics from the most recent genome-wide association studies (GWAS) for PD risk and age at onset from the International Parkinson’s Disease Genomics Consortium (IPDGC), as well as whole-genome sequencing data from the Accelerating Medicines Partnership Parkinson's disease (AMP-PD) initiative. To investigate the potential effect of changes in KTN1 expression on PD compared to unaffected individuals, we further assess publicly available expression quantitative trait loci (eQTL) results from GTEx v8 and BRAINEAC and transcriptomics data from AMP-PD. Overall, we found no genetic associations between KTN1 and PD in our cohorts but found potential evidence of differences in mRNA expression, which needs to be further explored.
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