Expression of circadian rhythm genes CLOCK, BMAL1, and PER1 in buccal epithelial cells of patients with essential arterial hypertension in dependence on polymorphic variants of CLOCK and BMAL1 genes.

Kurbatova IV, Topchieva LV, Korneva VA, Kolomeichuk SN, Nemova NN. Bull Exp Biol Med. 2014 Jul;157(3):360-3. 

In a previous study, the authors found that the rs1801260 SNP in clock is associated with hypertension and coronary artery disease. To determine how SNPs in circadian genes could exert their effects on the cardiovascular system, the authors recruited patients with essential hypertension (mean age 50.7±2.6 years).The subjects were genotyped, and gave buccal epithelial cell samples at 9:00, 13:00 and 17:00 for RNA expression analysis of clock, bmal1, and per1.

The study found that in essential hypertension patients, those with the CC genotype for rs1801260 and carriers of the G allele for the 257TG SNP in clock  had lowered expression at all timepoints, whereas those with the rs1801260 TT genotype had elevated clock RNA at 17:00.

These results, while statistically significant, were not adjusted for multiple comparisons and may thus be false positives because of the number of statistical tests.

rs1801260 in clock

Clock rs1801260

NCBI Variation Viewer rs1801260

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