rs2853552
This variant is located in the HDAC9 gene.
▶Research that mentions this SNP (1)
▶Genome‐Wide Study of Subcutaneous and Visceral Adipose Tissue Reveals Novel Sex‐Specific Adiposity Loci in Mexican AmericansAssociationN=1,417Chuan Gao et al.(2018)· Obesity
This genome-wide association study (GWAS) in 1,417 Mexican Americans identified six loci with genome-wide significant associations with fat deposition phenotypes (visceral and subcutaneous adipose tissue). The strongest signal was rs2185405 in GLIS3 associated with visceral adipose tissue (P=1.98×10⁻⁸), with carriers of the minor allele showing 19.91 cm² less visceral fat. Sex-stratified analyses revealed SRFBP1 and SNX13 loci with male-specific associations, and SNP-sex interaction analyses identified significant variants in TMCC1, PAPPA2, and TBX15.
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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