Coronary Artery Disease Risk Stratification in South Asian Populations Using Candidate SNPs and Polygenic Risk Modeling

This record contains a research protocol/preprint titled Coronary Artery Disease Risk Stratification in South Asian Populations Using Candidate SNPs and Polygenic Risk Modeling. The manuscript presents a planned candidate SNP-based genetic association study focused on coronary artery disease risk stratification in South Asian populations, with emphasis on an Indian case-control cohort. The protocol proposes the evaluation of 1,000 coronary artery disease cases and 1,000 controls of Indian ancestry. It focuses on six CAD-associated single-nucleotide polymorphisms: rs1333049, rs10757278, rs2075291, rs4977574, rs9349379, and rs7173743. These variants were selected because of prior association with coronary artery disease and biological relevance to atherosclerosis, lipid metabolism, vascular smooth-muscle regulation, endothelial function, extracellular matrix remodeling, and plaque stability. The manuscript provides a structured methodological framework, including study rationale, case and control definitions, inclusion and exclusion criteria, clinical phenotype collection, DNA extraction, targeted genotyping, genotype quality-control benchmarks, Hardy-Weinberg equilibrium assessment, allele-frequency analysis, logistic regression modeling, multiple-testing correction, sensitivity analyses, and exploratory polygenic risk score construction. The polygenic risk score component is presented strictly as a research-grade exploratory model. This manuscript does not report completed human-subject genotyping results and does not claim clinical diagnostic utility, treatment guidance, or validated medical prediction. Expected results and analytical workflows are included as planned or hypothetical outputs for future validation. External validation in independent cohorts, ethical oversight, regulatory review, and appropriate clinical governance would be required before any clinical application. This work is intended to support reproducible cardiovascular genetics research, improve population-specific understanding of CAD-associated genetic variation in South Asian populations, and provide a scientifically structured framework for future candidate SNP association studies and exploratory polygenic risk modeling. Keywords: coronary artery disease, CAD, South Asian population, Indian population, candidate SNP, genetic association study, polygenic risk score, PRS, cardiovascular genetics, precision medicine, population genetics, rs1333049, rs10757278, rs2075291, rs4977574, rs9349379, rs7173743. This fits your uploaded manuscript because it is labeled as a comprehensive research protocol, uses a 1,000-case/1,000-control design, focuses on six CAD SNPs, and includes PRS, ethics, and research-use-only boundaries.

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Publication Details

Journal
Zenodo (CERN European Organization for Nuclear Research)
Published
2026-05-30
DOI
https://doi.org/10.5281/zenodo.20454339
Primary Topic
Genetic Associations and Epidemiology
Type
preprint
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preprint

Coronary Artery Disease Risk Stratification in South Asian Populations Using Candidate SNPs and Polygenic Risk Modeling

Rami Alkhaleeli, Mohammed S. Mustak, Akram Jassam Mohammed
Zenodo (CERN European Organization for Nuclear Research)
Genetic Associations and Epidemiology
preprint

Coronary Artery Disease Risk Stratification in South Asian Populations Using Candidate SNPs and Polygenic Risk Modeling

Rami Alkhaleeli, Mohammed S. Mustak, Akram Jassam Mohammed
preprint en

Abstract

This record contains a research protocol/preprint titled Coronary Artery Disease Risk Stratification in South Asian Populations Using Candidate SNPs and Polygenic Risk Modeling. The manuscript presents a planned candidate SNP-based genetic association study focused on coronary artery disease risk stratification in South Asian populations, with emphasis on an Indian case-control cohort. The protocol proposes the evaluation of 1,000 coronary artery disease cases and 1,000 controls of Indian ancestry. It focuses on six CAD-associated single-nucleotide polymorphisms: rs1333049, rs10757278, rs2075291, rs4977574, rs9349379, and rs7173743. These variants were selected because of prior association with coronary artery disease and biological relevance to atherosclerosis, lipid metabolism, vascular smooth-muscle regulation, endothelial function, extracellular matrix remodeling, and plaque stability. The manuscript provides a structured methodological framework, including study rationale, case and control definitions, inclusion and exclusion criteria, clinical phenotype collection, DNA extraction, targeted genotyping, genotype quality-control benchmarks, Hardy-Weinberg equilibrium assessment, allele-frequency analysis, logistic regression modeling, multiple-testing correction, sensitivity analyses, and exploratory polygenic risk score construction. The polygenic risk score component is presented strictly as a research-grade exploratory model. This manuscript does not report completed human-subject genotyping results and does not claim clinical diagnostic utility, treatment guidance, or validated medical prediction. Expected results and analytical workflows are included as planned or hypothetical outputs for future validation. External validation in independent cohorts, ethical oversight, regulatory review, and appropriate clinical governance would be required before any clinical application. This work is intended to support reproducible cardiovascular genetics research, improve population-specific understanding of CAD-associated genetic variation in South Asian populations, and provide a scientifically structured framework for future candidate SNP association studies and exploratory polygenic risk modeling. Keywords: coronary artery disease, CAD, South Asian population, Indian population, candidate SNP, genetic association study, polygenic risk score, PRS, cardiovascular genetics, precision medicine, population genetics, rs1333049, rs10757278, rs2075291, rs4977574, rs9349379, rs7173743. This fits your uploaded manuscript because it is labeled as a comprehensive research protocol, uses a 1,000-case/1,000-control design, focuses on six CAD SNPs, and includes PRS, ethics, and research-use-only boundaries.

Zenodo (CERN European Organization for Nuclear Research)
Mangalore University (IN), University of Al Maarif (IQ), Yukon Kuskokwim Health Corporation (US)
Reduced inequalities
Genetic Associations and Epidemiology
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