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Background <p>Non-communicable diseases, primarily Coronary Artery Diseases (CAD), are on the rise globally, with an increased ethnic predisposition towards Southeast Asian Population (SEAP) causing Premature CAD (PCAD). The current study aimed at genetic analysis of angiographically proven, symptomatic PCAD in an ethnolinguistic Gujarati group.</p> Methods <p>This single-centre, cross-sectional, case control study was an underpowered, pilot study over 15 months, involving 22 cases of PCAD (without conventional risk factors) and 192 controls. After genotyping and quality control, additive model derived case control association analysis, Bonferroni correction (threshold <i>p</i> &lt; 1.23E-07) and logistic regression analysis (using age, sex and Principal Components as covariates) were performed for analysis.</p> Results <p>Additive model derived 80 SNPs, further corrected by Bonferroni correction, showed 16 SNPs with strong statistical significance, which were further annotated to the genes. Three genes were consistently identified across all three models of analysis: BACH2, PRKG2 and KCNIP4, which were not only statistically significant (<i>p</i> &lt; 5e-08), but also mapped to functional genomic regions, indicating a potentially clinical significance in the pathophysiology of PCAD in this population. BACH2 is seen to be associated with eosinophilia and coronary calcifications, PRKG2 with HCN and cardiac myocyte resting membrane potentials and KCNIP4 with hypertrophy and heart failure.</p> Conclusions <p>This study provides new loci which may advance the knowledge of genetic predisposition to PCAD in the Gujarati SEAP. Larger multicentric study mediated confirmation and further incorporation into SEAP specific Polygenic Risk Score could predict PCAD in this population.</p>

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Genetic analysis of symptomatic premature coronary artery disease in an ethnolinguistic Southeast Asian group: a pilot case-control study

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年4月9日

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  • Kushal Pujara,
  • Krushan Yajnik,
  • Bhalendu Vaishnav,
  • Tejas Shah,
  • Apurvasinh Puvar,
  • Chaitanya Joshi

摘要

Background

Non-communicable diseases, primarily Coronary Artery Diseases (CAD), are on the rise globally, with an increased ethnic predisposition towards Southeast Asian Population (SEAP) causing Premature CAD (PCAD). The current study aimed at genetic analysis of angiographically proven, symptomatic PCAD in an ethnolinguistic Gujarati group.

Methods

This single-centre, cross-sectional, case control study was an underpowered, pilot study over 15 months, involving 22 cases of PCAD (without conventional risk factors) and 192 controls. After genotyping and quality control, additive model derived case control association analysis, Bonferroni correction (threshold p < 1.23E-07) and logistic regression analysis (using age, sex and Principal Components as covariates) were performed for analysis.

Results

Additive model derived 80 SNPs, further corrected by Bonferroni correction, showed 16 SNPs with strong statistical significance, which were further annotated to the genes. Three genes were consistently identified across all three models of analysis: BACH2, PRKG2 and KCNIP4, which were not only statistically significant (p < 5e-08), but also mapped to functional genomic regions, indicating a potentially clinical significance in the pathophysiology of PCAD in this population. BACH2 is seen to be associated with eosinophilia and coronary calcifications, PRKG2 with HCN and cardiac myocyte resting membrane potentials and KCNIP4 with hypertrophy and heart failure.

Conclusions

This study provides new loci which may advance the knowledge of genetic predisposition to PCAD in the Gujarati SEAP. Larger multicentric study mediated confirmation and further incorporation into SEAP specific Polygenic Risk Score could predict PCAD in this population.