rs2839619

This is a intron variant variant in the PKNOX1 gene.

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Research that mentions this SNP (1)

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Genome‐wide association study of neurocognitive impairment and dementia in HIV‐infected adults
AssociationN=1,287Andrew J. Levine et al.(2012)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

First genome-wide association study (GWAS) of HIV-associated neurocognitive disorders (HAND) in 1287 HIV-infected adults from the Multicenter AIDS Cohort Study. The study examined neurocognitive decline in processing speed and executive functioning over time, as well as prevalence of HIV-associated dementia and neurocognitive impairment across ~2.5 million SNPs. No genome-wide significant associations were identified with any neurocognitive phenotype examined. Previously reported candidate gene associations with HAND (including rs1130371 in MIP1α, rs1800629 in TNFα, rs1801157 in SDF-1, and rs2839619 in PREP1) were not validated in this study.

Traits studied:Executive functioning declineHIV-associated dementia (HAD)HIV-associated neurocognitive disorder (HAND)Neurocognitive impairment (NCI)Processing speed decline
PubMedDOIMetascience Observatory

About PKNOX1

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in angiogenesis. Predicted to act upstream of or within camera-type eye development; hemopoiesis; and positive regulation of transcription by RNA polymerase II. Located in cytosol and nucleus. [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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