rs11796528 - EFNB1 - PJA1
Magnitude 2.2 · 1 study on file
Reported associations
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Common X-Chromosome Variants Are Associated with Parkinson Disease Risk - Unknown journal (n.d.) · Unknown authors · PubMed 33583074
ABSTRACT: Objective: The objective of this study was to identify genetic variants on the X-chromosome associated with Parkinson disease (PD) risk. Methods: We performed an X-chromosome-wide association study (XWAS) of PD risk by meta-analyzing results from sex-stratified analyses. To avoid spurious associations, we designed a specific harmonization pipeline for the X-chromosome and focused on a European ancestry sample. We included 11,142 cases, 280,164 controls, and 5,379 proxy cases, based on parental history of PD. Additionally, we tested the association of significant variants with (1) PD risk in an independent replication with 1,561 cases and 2,465 controls and (2) putamen volume in 33,360 individuals from the UK Biobank. Results: In the discovery meta-analysis, we identified rs7066
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Discuss with your doctor
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Parkinson's disease genetic risk and surveillance strategy Moderate
The A allele at rs11796528 is associated with 1.08-fold increased Parkinson's disease risk through altered PJA1 expression in cerebellar brain regions.
Screening
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Baseline neurological assessment for Parkinson's disease Moderate
Increased genetic risk warrants early or more frequent assessment for motor and cognitive signs of Parkinson's disease.
Discuss with neurologist about appropriate baseline testing and follow-up interval.