rs3902720

This variant is located in the ELAVL4 gene.

Research that mentions this SNP (2)

Replication of association between ELAVL4 and Parkinson disease: the GenePD study
AssociationN=1,024DeStefano AL et al.(2008)· Human Genetics

This study replicates association between ELAVL4 SNP rs967582 and Parkinson disease risk in 712 PD patients and 312 controls from the Gene PD study. The minor allele of rs967582 showed increased risk of PD (OR = 1.46, P = 0.011 for dominant model, P = 0.021 for additive model). Meta-analysis across five populations confirmed overall association with rs967582 and PD affection status (P = 0.0063). This represents the third Caucasian population demonstrating association between this ELAVL4 variant and PD susceptibility.

Traits studied:Age at onset of Parkinson diseaseParkinson disease
ELAVL4, PARK10, and the Celts
AssociationN=1,563Kristoffer Haugarvoll et al.(2007)· Movement Disorders

This association study examined ELAVL4 gene polymorphisms in Norwegian, US, and Irish Parkinson's disease (PD) case-control samples to replicate previous findings of ELAVL4 association with age-at-onset in PD. While no associations were found in Norwegian or US samples, two ELAVL4 markers (rs967582, OR=1.53, p=0.007; rs3902720, OR=1.55, p=0.006) showed significant allelic association with PD susceptibility in the Irish series. The authors suggest this Irish-specific association may reflect a Celtic-founder effect, rather than a universal PD susceptibility locus.

Traits studied:Age-at-onset in Parkinson's diseaseParkinson's disease

About ELAVL4

Enables mRNA 3'-UTR AU-rich region binding activity; poly(A) binding activity; and pre-mRNA intronic pyrimidine-rich binding activity. Involved in 3'-UTR-mediated mRNA stabilization; RNA processing; and positive regulation of 3'-UTR-mediated mRNA stabilization. Predicted to be located in axon; cytoplasm; and dendrite. Predicted to be part of ribonucleoprotein complex. Predicted to be active in glutamatergic synapse. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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