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Insights into X-Linked Susceptibility to Parkinson's Disease in the South African Population.


ABSTRACT: X chromosome-wide association studies (XWAS) have successfully identified risk loci on the X chromosome associated with Parkinson's disease (PD) susceptibility. However, only three such studies have been completed to date. Here, we present the first XWAS using an African cohort, comprising 690 PD cases and 826 controls. We applied an established XWAS workflow to perform male- and female-stratified analyses, as well as a combined meta-analysis. The male-stratified analysis identified five significant variants, including one lead locus (rs200539602), while the female-stratified analysis revealed 29 significant variants and two lead loci (rs2499550 and rs58045540), where rs2499550 is an upstream variant of the protein-coding gene FAAH2. The remaining female-stratified significant varia

SUBMITTER: Step K 

PROVIDER: S-EPMC12755251 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature