Genetic association study of ACE I/D, 4a/b of eNOS, rs1801133 of MTHFR, and T344C of CYP11B2 with chronic kidney disease (CKD) in the Jammu region of North Indian population.

Chronic kidney diseases are described by the decreased ability of the kidney to perform its normal functions, which include removing waste products from the blood, controlling blood pressure, and producing erythropoietin. In the current molecular epidemiological study we aimed to find out the association between the ACE I/D, 4a/b of eNOS, rs1801133 of MTHFR, and T344C of CYP11B2 polymorphism and chronic kidney diseases (CKD) in the population of Jammu region of the north Indian population. Convenient-based random sampling and simple random sampling approach were utilized to draw patients and control respectively. DNA was isolated from the collected blood sample and after target sequence amplification, the PCR–RFLP genotyping method was utilized to detect polymorphism and the result was confirmed by statistical analysis. We observed that risk allele i.e., CC of T344C, 4a/b variation of eNOS and rs1801133 of MTHFR was found to be significantly associated with CKD with an association value of OR 1.33, 95% CIs [1.02–1.72] (p value = 0.007), OR 1.72, 95% CIs 1.72 [1.24–2.38] (p value = 0.001) and OR 5.98, 95% CIs [2.05–17.42] (p value = 0.0002) respectively. In conclusion, this molecular epidemiology study shows the variation in CYP11B2, eNOS, and MTHFR (T344C, 4a/b allele, and rs1801133 respectively) significantly increases the risk of CKD in the region of Jammu of the north Indian population. [ABSTRACT FROM AUTHOR]