rs2544038

This is a regulatory region variant variant in the HDAC7 gene.

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Research that mentions this SNP (2)

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Vitamin D receptor polymorphisms in patients with cutaneous melanoma
AssociationN=3,676Irene Orlow et al.(2012)· International Journal of Cancer

A population-based case-control study of 3,676 individuals from the Genes, Environment and Melanoma (GEM) Study examined 38 vitamin D receptor (VDR) gene polymorphisms in relation to cutaneous melanoma risk. The study found 8 SNPs with statistically significant associations with melanoma, including 6 SNPs investigated for the first time in relation to melanoma (OR range approximately 0.87-1.19), supporting the role of the vitamin D pathway in melanoma genesis.

Traits studied:Cutaneous melanomaMultiple primary melanoma
PubMedDOIMetascience Observatory
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Vitamin D pathway gene variants and prostate cancer prognosis
AssociationN=1,294Sarah K. Holt et al.(2010)· The Prostate

This prospective cohort study of 1,294 Caucasian prostate cancer cases with 8-year follow-up examined vitamin D pathway gene variants (VDR, CYP27B1, CYP24A1) using 48 tagging SNPs. Variants in VDR (rs6823, rs2071358, rs3782905, rs7299460, rs11168314) and CYP24A1 (rs927650, rs2762939, rs3787557, rs4809960, rs2296241, rs2585428, rs6022999) were associated with altered risks of prostate cancer recurrence/progression and/or prostate cancer-specific mortality. A panel of VDR and CYP24A1 SNPs improved prediction of 5-year recurrence/progression (sensitivity increased from 53.7% to 75.6% at 80% specificity) beyond clinical parameters alone.

Traits studied:Prostate cancer prognosisProstate cancer recurrence/progressionProstate cancer-specific mortality
PubMedDOIMetascience Observatory

About HDAC7

Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene has sequence homology to members of the histone deacetylase family. This gene is orthologous to mouse HDAC7 gene whose protein promotes repression mediated via the transcriptional corepressor SMRT. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all HDAC7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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