Genome- and Exome-Wide Association Studies Revealed Candidate Genes Associated with DaTscan Imaging Features.

ABSTRACT:

Introduction

Despite remarkable progress in identifying Parkinson's disease (PD) genetic risk loci, the genetic basis of PD remains largely unknown. With the help of the endophenotype approach and using data from dopamine transporter single-photon emission computerized tomography (DaTscan), we identified potentially involved genes in PD.

Method

We conducted an imaging genetic study by performing exome-wide association study (EWAS) and genome-wide association study (GWAS) on the specific binding ratio (SBR) of six DaTscan anatomical areas between 489 and 559 subjects of Parkinson's progression markers initiative (PPMI) cohort and 83,623 and 36,845 single-nucleotide polymorphisms (SNPs)/insertion-deletion mutations (INDELs). We also investigated the association of cerebrospina

SUBMITTER: Yaghoobi A 

PROVIDER: S-EPMC10468272 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature