Table 5 Human studies on NSW and clock genes
From: Night shift work and breast cancer: from etiopathology to precision risk analysis
NSW Effect | Parameter(s) | Outcome | Year | Ref. |
|---|---|---|---|---|
Epigenetic alterations in core clock genes | DNA methylation: CLOCK (promoter), CRY2 (promoter) | CLOCK ↓meth; CRY2 ↑meth | 2011 | |
Altered circadian gene expression (not significant after adjustment) | mRNA (PER1, PER3) in peripheral blood leukocytes | PER1, PER3 ↑ (ns) | 2013 | |
No significant difference in clock gene expression | Peripheral lymphocyte clock gene mRNA | ↔ unchanged gene expression | 2013 | |
Shift-dependent variation of PER2 | mRNA (PER2, NR1D1, ESR2) in blood | PER2 ↑ (night), ↓ (day); NR1D1, ESR2 ↔ | 2015 | |
Genome-wide circadian gene hypomethylation | DNA methylation: CLOCK, BMAL1, PER1–3, CSNK1D/E, NPAS2, RORA | ↓meth (multiple) | 2015 | |
Alcohol modulated peripheral clock gene rhythm | mRNA (CLOCK, BMAL1, PER1, CRY2, PER2) in blood | ↑amplitude CLOCK, BMAL1, PER1, CRY2 | 2016 | |
Differential methylation of clock genes linked to BC risk | DNA methylation: CLOCK, BMAL1, PER1, CRY1 | CLOCK/BMAL1/PER1 ↑meth; CRY1 ↓meth | 2017 | |
Dampened amplitude and phase misalignment of rhythmic transcripts | mRNA (PER1, DBP, BMAL1, NR1D1, NR1D2) in PBMCs | ↓amplitude, phase shift | 2018 | |
Reduced expression of PER3 and NR1D2 | mRNA in beard follicle cells | PER3, NR1D2 ↓ | 2019 | |
Gene–environment interaction in BC risk | CLOCK, CRY2, RORA SNPs | CRY2 (rs2292912) + NSW ↑ BC risk; RORA (rs1482057) ↑ BC risk | 2019 | |
Light therapy modulated circadian gene markers | mRNA (REV-ERBα, BMAL1) in PBMCs | REV-ERBα ↓ ; REV-ERBα/BMAL1 ratio ↑ | 2022 | |
Differential methylation of circadian genes by shift duration | DNA methylation: CSNK1E, NR1D1, BMAL1 | CSNK1E ↑meth; NR1D1 ↓meth; BMAL1 ↑meth | 2022 | |
Melatonin-linked methylation patterns | DNA methylation: RORA, MTNR1A, PER3 | RORA ↑meth; MTNR1A ↑ / ↓ ; PER3 ↓meth | 2022 | |
Increased clock gene expression post-shift with BP rise | mRNA (BMAL1, CLOCK, PER1–3) in blood; BP | All ↑; ↑SBP/DBP, non-dipping | 2023 | |
NSW–genotype interaction in T2D risk | CLOCK rs1801260, MTNR1A/B variants | Gene–environment ↑T2D risk | 2023 | |
Epigenetic alterations in core clock genes | DNA methylation: CRY2, CSNK1D, RORA, RORC | Differential meth (↑/↓) | 2023 | |
Dysregulated clock gene expression linked to BC susceptibility | mRNA (PER1, TEF, CLOCK) | PER1, TEF ↓ ; CLOCK ↑ | 2024 | |
Disrupted rhythmicity of core clock genes | mRNA (PER2, PER3, BMAL1, ESR1/2) in PBMCs | PER2/BMAL1 rhythm lost; PER1, ESR1 altered | 2024 | |
Genetic protection vs hypertension under NSW | CLOCK rs1801260, BMAL1 rs11022775 | GG (CLOCK), TT (BMAL1) → ↓ HTN risk | 2024 |
