rs4580704

This is a intron variant variant in the CLOCK gene.

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Research that mentions this SNP (2)

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Polymorphism in alpha 2A adrenergic receptor gene is associated with sialorrhea in schizophrenia patients on clozapine treatment
AssociationN=237Anssi Solismaa et al.(2014)· Human Psychopharmacology: Clinical and Experimental

This dissertation examined pharmacogenetic associations with clozapine adverse effects in 237 Finnish schizophrenia patients. ADRA2A rs1800544 was associated with clozapine-induced sialorrhea (OR 2.13, 95% CI: 1.17-3.88, p=0.013). Eight HNMT SNPs in complete linkage disequilibrium (r²=1) were associated with sedation. CHRM3 rs685548 and weighted genetic risk scores from HTR4, HTR7, TPH1, CHRM2, ABCB1, and OPRM1 were associated with anticholinergic symptoms.

Traits studied:Anticholinergic symptomsClozapine pharmacokineticsClozapine-induced sialorrheaConstipationSchizophrenia (treatment-related adverse effects)Sedation
PubMedDOIMetascience Observatory
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Functional polymorphisms of circadian positive feedback regulation genes and clinical outcome of Chinese patients with resected colorectal cancer
ReviewFeng Zhou et al.(2012)· Cancer

Handbook of Experimental Pharmacology (Volume 217) providing comprehensive review of circadian clock biology and its role in health and disease. Discusses molecular mechanisms of circadian regulation, circadian control of metabolism, sleep, hormones, and behavior, and applications to pharmacotherapy including cancer chronotherapy. Reviews genetic variants in circadian genes (CLOCK rs1801260 and rs4580704, MTNR1A rs2119882, MTNR1B rs3781637) associated with metabolic traits and disease susceptibility, and circadian clock gene mutations linked to cancer risk and metabolic disorders.

Traits studied:Advanced sleep phase syndromeBreast cancerCancer susceptibilityChronic lymphocytic leukemiaColorectal cancerDelayed sleep phase syndromeFasting glucoseHypertensionInsulin resistanceMetabolic syndromeNon-Hodgkin lymphomaObesityOvarian cancerPolycystic ovary syndromeSleep disordersType 2 diabetes
PubMedDOIMetascience Observatory

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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