rs10462028
This is a intron variant variant in the CLOCK gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
▶Research that mentions this SNP (1)
▶Actimetric evidence that CLOCK 3111 T/C SNP influences sleep and activity patterns in patients affected by bipolar depressionAssociationN=2,157Francesco Benedetti et al.(2007)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
In a cross-sectional study of 2,157 European subjects, rs10462028 in the CLOCK circadian gene showed a significant gene-by-environment interaction with financial hardship on migraine susceptibility (p=0.006 in recessive model), with a crossover pattern where the AA genotype was protective under severe financial stress but a risk factor under financial comfort. The effect remained after controlling for depression and was replicated in the Budapest subsample. In silico analysis revealed rs10462028 affects microRNA binding sites that regulate CLOCK expression.
About CLOCK
The protein encoded by this gene plays a central role in the regulation of circadian rhythms. The protein encodes a transcription factor of the basic helix-loop-helix (bHLH) family and contains DNA binding histone acetyltransferase activity. The encoded protein forms a heterodimer with ARNTL (BMAL1) that binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY proteins heterodimerize and repress their own transcription by interacting in a feedback loop with CLOCK/ARNTL complexes. Polymorphisms in this gene may be associated with behavioral changes in certain populations and with obesity and metabolic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
View all CLOCK variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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