rs4864548
This is a coding sequence variant variant in the CLOCK gene.
▶Research that mentions this SNP (1)
▶Association of osteoporosis with genetic variants of circadian genes in Chinese geriatricsAssociationN=597Li Y. et al.(2016)· Osteoporosis International
This cross-sectional candidate gene study examined 14 tag SNPs in 7 circadian genes for association with osteoporosis risk in 597 Chinese geriatric subjects. CRY2 rs2292910 showed protective effects (AC genotype OR=0.647, p=0.044), while MTNR1B rs3781638 showed increased risk (GG genotype OR=2.058, p=0.044). The findings suggest circadian gene variants may influence bone mineral density and osteoporosis susceptibility.
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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