rs2291738
This is a splice region variant variant in the TIMELESS gene.
▶Research that mentions this SNP (1)
▶Clock genes may influence bipolar disorder susceptibility and dysfunctional circadian rhythmAssociationN=1,158Jiajun Shi et al.(2008)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This family-based association study examined 15 circadian genes in 1,158 individuals (70 trios and 237 quads in Sample II) to investigate genetic susceptibility to bipolar disorder. Three CLOCK gene SNPs showed nominally significant association with BP (rs534654 p=0.0097, rs6850524 p=0.012, rs4340844 p=0.015). Most importantly, a significant multi-locus interaction between rs6442925 in BHLHB2, rs1534891 in CSNK1E, and rs534654 near the CLOCK gene was identified (p=0.00000172), which remained significant after correction for multiple testing using the False Discovery Rate method (FDR p=0.00000177).
About TIMELESS
The protein encoded by this gene is highly conserved and is involved in cell survival after damage or stress, increase in DNA polymerase epsilon activity, maintenance of telomere length, and epithelial cell morphogenesis. The encoded protein also plays a role in the circadian rhythm autoregulatory loop, interacting with the PERIOD genes (PER1, PER2, and PER3) and others to downregulate activation of PER1 by CLOCK/ARNTL. Changes in this gene or its expression may promote prostate cancer, lung cancer, breast cancer, and mental disorders. [provided by RefSeq, Feb 2014]
View all TIMELESS variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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