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

Manali Shah1, Anjali Gupta1, Mitali Talekar1

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

Indian Journal of Clinical Biochemistry : IJCB
|January 15, 2024
PubMed
Summary

The Angiotensin Converting Enzyme (ACE) I/D polymorphism is linked to type-2 diabetes risk, specifically in women. Diabetic women with the

Keywords:
Angiotensin converting enzymeDiabetesI/D PolymorphismSex-specific

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Area of Science:

  • Genetics
  • Cardiovascular Disease
  • Diabetes Research

Background:

  • The insertion/deletion (I/D) polymorphism in the Angiotensin Converting Enzyme (ACE) gene is a known marker for cardiovascular disease (CVD).
  • Rising diabetes prevalence, particularly in India, increases CVD risk, necessitating investigation into genetic predispositions like the ACE I/D polymorphism (rs4340).

Purpose of the Study:

  • To investigate the association between the ACE I/D polymorphism (rs4340) and type-2 diabetes in an Indian urban population.
  • To explore potential sex-specific effects of this genetic marker on diabetes risk.

Main Methods:

  • Genotyping of the ACE I/D polymorphism using polymerase chain reaction and electrophoresis in 410 urban subjects.
  • Analysis of genotype frequencies and odds ratios (OR) in relation to diabetes and hypertension status.
  • Stratified analysis for sex-specific associations.

Main Results:

  • No significant difference in ACE I/D genotype frequencies was observed between diabetic and non-diabetic subjects overall.
  • A significant association was found in women: diabetic women showed a higher prevalence of the risk 'D' allele.
  • Women with the 'D/D' genotype had a threefold increased risk of diabetes (OR 3.12) and a sixfold increased risk when hypertension was absent (OR 6.0).

Conclusions:

  • The ACE I/D polymorphism exhibits a sex-specific association with type-2 diabetes, primarily affecting women.
  • The 'D' allele and 'D/D' genotype confer increased diabetes risk in women, suggesting a potential role in targeted interventions.
  • Further validation in larger cohorts is recommended to confirm these findings and their implications for cardiovascular mortality in Indian populations.