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The ‘Insertion/Deletion’ Polymorphism, rs4340 and Diabetes Risk: A Pilot Study from a Hospital Cohort

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Abstract

The insertion/deletion, I/D polymorphism, in the gene encoding Angiotensin Converting Enzyme, ACE is a popular genetic marker for cardiovascular disease, CVD. With alarming rise in diabetes, the risk of CVD among Indian subjects is further enhanced. The present study explored the role of ACE I/D polymorphism, rs4340 as a genetic marker and its association with diabetes. Genomic DNA, isolated from a cohort of 410 urban subjects attending our hospital, was genotyped using polymerase chain reaction followed by electrophoresis. Among the subjects, 84 had type-2 diabetes and 68 had hypertension while 258 were free from these risk factors. Majority (57/84) of diabetic subjects were also suffering from hypertension. Genotype frequencies of ACE I/D polymorphism, of diabetic (84) patients were not different from that of non-diabetic subjects (258). In sharp contrast, we found significant differences, in genotype frequencies of women with diabetes (n = 38) compared to non-diabetic women (70). Diabetic women had significantly higher prevalence of the high risk ‘D’ allele. Analysis of odds ratio, OR revealed that women with ‘D/D’ genotype, exhibited threefold risk (OR 3.12, 95% CI 1.21—8.05; p = 0.018) of diabetes, in the recessive model (D/D vs I/I + I/D). Further when we analysed Odds ratio of diabetic women (8) who were free from hypertension, the results revealed even a greater, 6- fold (OR 6.0, 95% CI 1.29–27.96, p = 0.027) risk of diabetes for D/D homozygous women (D/D vs I/I + I/D). These results suggest ‘sex-specific’ association of ACE ‘I/D’ polymorphism, with type-2 diabetes, affecting women while there was no influence observed among men. In view of the increased cardiovascular mortality among Indians, data from our pilot study if confirmed in a larger cohort, could add value to our future intervention efforts.

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Acknowledgements

The authors are grateful to Dr. Vikrant Bhor (from NIRRH) for his help in statistical analysis. We would like to thank Ms. Carmin Fernandes for her guidance in recording the patient's medical history and collection of blood samples

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Author notes

  1. Manali Shah and Anjali Gupta contributed equally.

Authors and Affiliations

  1. Bayview Advisory Services Pvt. Ltd, 3rd Floor, Backbayview Building, 3A Mama Parmanand Marg, Opera house, Mumbai, 400004, Maharashtra, India

    Manali Shah, Anjali Gupta, Mitali Talekar, Priyanka Doctor, Sandra Fernandes, Rahul Doctor & A. Rosalind Marita

  2. National Institute for Research in Reproductive Health (NIRRH), Mumbai, India

    Krishna Chaaithanya

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  1. Manali Shah
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  2. Anjali Gupta
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Correspondence to A. Rosalind Marita.

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Shah, M., Gupta, A., Talekar, M. et al. The ‘Insertion/Deletion’ Polymorphism, rs4340 and Diabetes Risk: A Pilot Study from a Hospital Cohort. Ind J Clin Biochem 39, 124–129 (2024). https://doi.org/10.1007/s12291-022-01076-2

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  • DOI: https://doi.org/10.1007/s12291-022-01076-2

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