rs2032623

This variant is located in the KDM5D gene.

Research that mentions this SNP (2)

Forensic use of Y-chromosome DNA: a general overview
ReviewManfred Kayser et al.(2017)· Human Genetics

A comprehensive review of forensic applications of Y-chromosome DNA analysis, including Y-STR haplotyping for paternal lineage identification, paternity and kinship testing, familial searching, and bio-geographic ancestry inference. The paper illustrates these applications through the 14-year investigation of the 1999 Marianne Vaatstra murder case in the Netherlands, which was solved using Y-STR-based DNA dragnet and familial searching. The review discusses various Y-STR markers (9-27 loci), rapidly mutating Y-STRs for better discrimination, Y-SNP haplogroups for ancestry inference, and future directions in forensic Y-chromosome analysis.

Traits studied:Bio-geographic ancestry inferenceCrime scene investigationDisaster victim identificationFamilial searchingKinship analysisMissing person identificationPaternity testingY-chromosome paternal lineage identification
Association of Y chromosome haplogroup I with HIV progression, and HAART outcome
AssociationN=3,490Efe Sezgin et al.(2009)· Human Genetics

This association study examined Y chromosome haplogroup effects on HIV progression and HAART response in 3,490 subjects (2,292 European Americans, 1,233 African Americans) from five HIV cohorts. Y chromosome haplogroup I (Y-I) in European Americans showed significantly faster AIDS progression with relative hazards of 2.05-2.84 (p=0.001-0.007) and longer time to viral suppression on HAART (RH=0.62, p=0.001). These associations remained significant after false-discovery-rate correction and were independent of known autosomal AIDS restriction genes. No significant associations were found in African Americans.

Traits studied:AIDS progressionAIDS-defining illnessCD4 depletionHAART responseHIV infectionViral load set point

About KDM5D

This gene encodes a protein containing zinc finger domains. A short peptide derived from this protein is a minor histocompatibility antigen which can lead to graft rejection of male donor cells in a female recipient. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]

View all KDM5D variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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