rs11764116
This variant is located in the HDAC9 gene.
▶Research that mentions this SNP (1)
▶Genetic predictors of medically refractory ulcerative colitisAssociationN=861Talin Haritunians et al.(2010)· Inflammatory Bowel Diseases
Genome-wide association study identifying 46 SNPs associated with medically refractory ulcerative colitis (MR-UC) that together explain 48% of the variance in colectomy risk. A genetic risk score based on these SNPs achieved an AUC of 0.91 in predicting colectomy need, with risk categories showing 0-100% colectomy rates. Genome-wide significant associations were confirmed at the MHC region (rs17207986, p=1.4×10^-16) and suggestive association at TNFSF15/TL1A (rs11554257, p=1.4×10^-6).
About HDAC9
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 the Xenopus and mouse MITR genes. The MITR protein lacks the histone deacetylase catalytic domain. It represses MEF2 activity through recruitment of multicomponent corepressor complexes that include CtBP and HDACs. This encoded protein may play a role in hematopoiesis. Multiple alternatively spliced transcripts have been described for this gene but the full-length nature of some of them has not been determined. [provided by RefSeq, Jul 2008]
View all HDAC9 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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