rs112114764

This is a regulatory region variant variant in the HDAC5 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

bipolar disorder

Stahl EA et al. “Genome-wide association study identifies 30 loci associated with bipolar disorder.” Nature Genetics 51(5):793-803 (2019)
Allele G
OR 1.07
p 2.0e-8
N 51,710
Large GWAS
European
Li HJ et al. “Novel Risk Loci Associated With Genetic Risk for Bipolar Disorder Among Han Chinese Individuals: A Genome-Wide Association Study and Meta-analysis.” Jama Psychiatry 78(3):320-330 (2021)
Allele G
OR 0.94
p 3.0e-8
N 58,182
Meta-analysisLarge GWAS
multi-ancestry

About HDAC5

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 belongs to the class II histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. It coimmunoprecipitates only with HDAC3 family member and might form multicomplex proteins. It also interacts with myocyte enhancer factor-2 (MEF2) proteins, resulting in repression of MEF2-dependent genes. This gene is thought to be associated with colon cancer. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all HDAC5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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