The Role of Angiotensin II Type 1 Receptor A1166C Polymorphism in Autosomal Dominant Polycystic Kidney Disease.

Autor: Sasidharan A; General Medicine, Sri Ramachandra Institute of Higher Education and Research, Chennai, IND., Mv B; General Medicine, Sri Ramachandra Institute of Higher Education and Research, Chennai, IND., Mani R; General Medicine, Sri Ramachandra Institute of Higher Education and Research, Chennai, IND., P S; General Medicine, Sri Ramachandra Institute of Higher Education and Research, Chennai, IND.
Jazyk: angličtina
Zdroj: Cureus [Cureus] 2023 Jun 29; Vol. 15 (6), pp. e41136. Date of Electronic Publication: 2023 Jun 29 (Print Publication: 2023).
DOI: 10.7759/cureus.41136
Abstrakt: Introduction Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic disorder that affects the kidney, which affects all ethnical groups worldwide, with varied clinical presentations and severity. The studies done in various parts of the world on the association between angiotensin II type 1 receptor (AT1R) A1166C gene polymorphism and ADPKD patients have revealed inconsistent results. This study was done to assess the role of AT1R A1166C gene polymorphism in ADPKD in the South Indian population, which is the first of its kind. Methodology This is a case-control study, conducted at a tertiary care center in South India. This study was concerned with the frequency of exposure (genotype) in ADPKD patients. Peripheral blood samples from 85 unrelated ADPKD patients and 94 controls without diabetes, hypertension, or any kidney-related disease were collected. The AT1R A1166C polymorphism was compared between (i) the cases and controls, (ii) early and late stages of chronic kidney disease (CKD) (ADPKD) subjects, and (iii) ADPKD subjects with and without hypertension. Results Among the ADPKD patients, 45 (52.9%) subjects showed early stage (CKD stages 1-3), and 40 (47%) subjects showed late stage CKD (CKD stages 4 and 5). The genotype distribution of the studied 85 ADPKD patients was almost similar. No significant association was found between the genotype distribution of AT1R A1166C polymorphism in AA vs. AC (OR = 1.11; 95% CI = 0.37-3.32; p < 0.844) and A vs. C (OR = 1.11; 95% CI = 0.38-3.32; p < 0.847) between cases and controls. The genotype distributions in genetic model AA vs . AC (OR = 3.07; 95% CI = 0.56-16.8; p < 0.177) and allelic model A vs. C (OR = 2.13; 95% CI = 0.40-11.3; p < 0.364) between the early and late CKD stages of ADPKD were also not significant. No significant association of gene polymorphism was found between the non-hypertensive and hypertensive groups of ADPKD. Conclusion The results of our study suggest there is no significant association between AT1R A1166C polymorphisms and ADPKD in the South Indian population. Further, the gene polymorphism is not related to the progression of ADPKD or the presence of hypertension in ADPKD cases in South India.
Competing Interests: The authors have declared that no competing interests exist.
(Copyright © 2023, Sasidharan et al.)
Databáze: MEDLINE