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. 2023 Aug 27;14(9):1703. doi: 10.3390/genes14091703

Table 2.

Circadian gene variants associated with various phenotypes originating from disrupted physiological processes.

Gene Variant Genotype Phenotype Population Reference
PER1 rs2585405 GC + CC Lower 3α-diol, higher SHBG Chinese [66]
PER2 rs6431590 AG + AA Lack of overnight blood pressure decrease Chinese [67]
PER3 rs57875989 4/5 + 5/5 VNTR Increased serum IGF-I levels andIGF-I:IGFBP3 ratio Chinese [66]
CLOCK rs4580704 CG + GG DM Lower blood pressure, higher serum concentrations of MCP1 and adiponectin, lower type 2 diabetes risk Caucasian or predominantly Caucasian [68,69,70]
rs1801260 (3111T/C) GG RM Higher fasting insulin, higher HOMA-IR Caucasian [68]
CT + CC Higher oddsratio for the prevalence of diabetes Japanese [71]
Higher risk for cardiovascular disease multiple [72]
rs1554483 GC + GG Overweight, obesity Caucasian [73]
rs4864548 AG + AA Overweight, obesity Caucasian [73]
rs13113518 CT AM Higher campesterol levels Caucasian [74]
rs35115774 C- AM Lower campesterol and sitosterol levels Caucasian [74]
rs6832769 AG AM Lower campesterol and sitosterol levels Caucasian [74]
rs3749474 TC + TT DM Higher energy intake, decreased serum levels of IL-6 and MCP1 predominantly Caucasian [69]
rs6811520 TT RM Higher incidence of myocardial infarction Caucasian (Croatian) [75]
rs13124436 GG RM Higher incidence of myocardial infarction Caucasian (Croatian) [75]
BMAL1 rs6486121 TC + CC DM Higher campesterol levels Caucasian [74]
rs3789327 AG + GG DM Lower incidence of myocardial infarction Caucasian (Croatian) [75]
rs12363415 AG + GG DM Lower incidence of myocardial infarction Caucasian (Croatian) [75]
rs3816358 TT + TG Lack of overnight blood pressure decrease Chinese [67]
rs7950226 GG RM Lower risk for MetS comorbidities multiple [76]
CRY1 rs2078074 CC RM Higher sitosterol levels Caucasian [74]
rs2287161 CC Higher carbohydrate intake Spanish and Northamerican (predominatly Caucasian) [77]
RORββ rs1410225 TT Presence of overnight blood pressure decrease Chinese [67]
RORα rs10519096 AG + AA Lack of overnight blood pressure decrease Chinese [67]
REV-ERBα rs2314339 AG + AA Lower probability of abdominal obesity, more physical activity Spanish and Northamerican (predominatly Caucasian) [78]
NPAS2 rs3888170 CT + CC Lack of overnight blood pressure decrease Chinese [67]
rs2305160 GA + AA Decreased levels of free and bioavailable testosterone Chinese [66]

3α-diol—5a-androstane-3α, 17β-diol glucuronide; SHBG—sex hormone-binding globulin; IGF-I—insulin-like growth factor I; IGFBP3—insulin-like growth factor binding protein 3; DM—dominant model; RM—recessive model; HOMA-IR—homeostasis model assessment of insulin resistance; AM—additive model; RQ—respiratory quotient; RMR—resting metabolic rate; MetS—metabolic syndrome.