rs1130371

This is a synonymous variant in the CCL3 gene — it does not change the protein's amino acid sequence.

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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 CCL3

This locus represents a small inducible cytokine. The encoded protein, also known as macrophage inflammatory protein 1 alpha, plays a role in inflammatory responses through binding to the receptors CCR1, CCR4 and CCR5. Polymorphisms at this locus may be associated with both resistance and susceptibility to infection by human immunodeficiency virus type 1.[provided by RefSeq, Sep 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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