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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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Related Experiment Video

Updated: May 10, 2025

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
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Impact of Gene-Smoking Interaction on Risk of Atherosclerosis: Molecular Study of Prothrombin (F2) Gene rs1799963 G/A

Farrakh Ali Abbas1, Shazia Batool1, Moazma Hina1

  • 1Department of Biotechnology, University of Sargodha, University Road, Sargodha, Pakistan.

Cardiovascular Toxicology
|April 22, 2025
PubMed
Summary

The prothrombin F2 rs1799963 G allele and smoking significantly increase atherosclerosis risk. Their combined effect shows a strong interaction, elevating risk approximately 20-fold in active smokers with the G allele.

Keywords:
AtherosclerosisCardiovascular diseasesGene–smoking interactionProthrombin (F2)SmokingThrombinrs1799963

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Area of Science:

  • Cardiovascular Genetics
  • Molecular Epidemiology
  • Atherosclerosis Research

Background:

  • Atherosclerosis is a complex disease influenced by genetic and lifestyle factors.
  • The prothrombin (F2) gene rs1799963 G/A polymorphism is linked to thrombosis and cardiovascular diseases.
  • The interaction between rs1799963 and smoking in atherosclerosis risk requires further investigation.

Purpose of the Study:

  • To investigate the combined impact of the F2 rs1799963 polymorphism and smoking on atherosclerosis risk.
  • To analyze the interaction effect between genetic predisposition and smoking behavior in disease development.

Main Methods:

  • Case-control study involving 40 controls and 82 patients with angiographically confirmed atherosclerosis.
  • Genotyping of the rs1799963 G/A variants using a custom tri-ARMS-PCR assay.
  • Statistical analysis to assess individual and interactive effects of the polymorphism and smoking on atherosclerosis risk.

Main Results:

  • The F2 rs1799963 G allele (OR 2.96) and smoking (OR 3.9) independently increased atherosclerosis risk.
  • Individuals with the rs1799963 G allele and active smoking status exhibited a ~20-fold higher risk of atherosclerosis.
  • A significant positive interaction (synergy index = 2.125) was observed between the G allele and smoking, indicating a combined effect greater than individual risks.

Conclusions:

  • There is a strong synergistic interaction between the F2 rs1799963 polymorphism and smoking in the development of atherosclerosis.
  • The presence of the rs1799963 G allele combined with active smoking significantly elevates atherosclerosis risk.
  • These findings highlight the importance of considering gene-environment interactions in personalized risk assessment for atherosclerosis.