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Single nucleotide polymorphisms (SNPs) in circadian genes: Impact on gene function and phenotype
Ibrahim Baris1, Onur Ozcan1, Ibrahim Halil Kavakli2
1Department of Molecular Biology and Genetics, Koc University, Rumelifeneri Yolu, Sariyer, Istanbul, Türkiye.
Advances in Protein Chemistry and Structural Biology
|September 14, 2023
Summary
Single nucleotide polymorphisms in core circadian clock genes impact human circadian rhythms and disease susceptibility. Understanding these genetic variations is crucial for predicting and managing health outcomes related to circadian disruption.
Area of Science:
- Chronobiology
- Human Genetics
- Molecular Biology
Background:
- Circadian rhythms regulate daily physiological processes, including the sleep-wake cycle.
- The mammalian molecular circadian clock involves a transcriptional and translational feedback loop (TTFL) with core proteins BMAL1, CLOCK, CRY, and PER.
- Disruptions in circadian rhythm are linked to various diseases.
Purpose of the Study:
- To summarize the impact of single nucleotide polymorphisms (SNPs) in core clock genes on circadian rhythm.
- To review the association between these SNPs and human diseases.
Main Methods:
- Review of epidemiological and genetic studies.
- Analysis of the role of core clock gene variations in circadian regulation.
- Correlation of genetic findings with disease prevalence.
Main Results:
- Specific SNPs in core clock genes can alter circadian rhythmicity.
- These genetic variations are associated with an increased risk of certain human diseases.
- The TTFL mechanism is sensitive to genetic polymorphisms.
Conclusions:
- Core clock gene SNPs represent a significant factor in human circadian rhythm and disease.
- Further research into these genetic variations can inform disease prevention and treatment strategies.
- Understanding the interplay between genetics and circadian biology is vital for public health.
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