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Association of the ACE (rs1800764) Polymorphism with Risk of Diabetic Kidney Disease in Saudi Arabian Population: A Pilot Study using the PCR-RFLP Method

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Abstract—

Diabetic kidney disease (DKD) also known as diabetic nephropathy is the leading cause of end-stage renal disease, with multiple genetic and environmental factors involving in its etiology. Angiotensin-converting enzyme (ACE) gene is considered to have an important role in the development and progression of DKD. In this case-control study, we investigated the role of ACE T3892C (rs1800764) polymorphism in the development of DKD in Saudi Arabian population. We recruited 150 type 2 diabetic cases with DKD and 150 type 2 diabetic controls without DKD. The differences in age, sex, systolic blood pressure (SBP), diastolic blood pressure (DBP), duration of diabetes, fasting blood glucose, urinary albumin, albumin/creatinine ratio, serum urea and serum-creatinine between the two groups were analyzed. The genotyping of ACE T3892C polymorphism was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Genotype and allele frequencies were calculated by direct counting. Deviations from Hardy–Weinberg equilibrium (HWE) were tested using the Chi-square (χ2) test in both of studied groups. Odds ratio (OR) with 95% CI were used to evaluate the relationship of ACE T3892C polymorphism with DKD susceptibility. Statistical analysis was performed using SPSS (version 21.0) software and Medcalc software (version 16.4.3). The frequency distribution of ACE T3892C polymorphism was found to be different between case and control groups significantly indicating ACE gene could play an important role in the pathogenesis of DKD in Saudi Arabian population.

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ACKNOWLEDGMENTS

The authors would like to acknowledge Dr. Khalid Siddiqui and Mr. Shaik Sarfaraz Nawaz, Department of Biochemistry, Strategic Center for Diabetes Research for their kind help in biochemical data analysis.

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Authors and Affiliations

  1. Department of Genetics, Strategic Center for Diabetes Research, King Saud University, Riyadh, Saudi Arabia

    Mohthash Musambil, Amal Sufayran & Sara Al-Qasim

  2. University Diabetes Center, College of Medicine, King Saud University, Riyadh, Saudi Arabia

    Khalid Al-Rubeaan & Dhekra Al-Naqeb

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  1. Mohthash Musambil
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  2. Khalid Al-Rubeaan
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Correspondence to Mohthash Musambil, Khalid Al-Rubeaan, Amal Sufayran, Sara Al-Qasim or Dhekra Al-Naqeb.

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Statement of compliance with standards of research involving humans as subjects. All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. The research protocol was approved by the institutional review board, College of Medicine, King Saud University. Informed consent was obtained from all individual participants involved in the study.

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Mohthash Musambil, Al-Rubeaan, K., Sufayran, A. et al. Association of the ACE (rs1800764) Polymorphism with Risk of Diabetic Kidney Disease in Saudi Arabian Population: A Pilot Study using the PCR-RFLP Method. Cytol. Genet. 53, 502–509 (2019). https://doi.org/10.3103/S0095452719060069

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