1. Influence of genetic polymorphism in renin-angiotensin system-candidate genes on urinary trefoil family factor 3 levels in children with congenital anomalies of kidney and urinary tract
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Anand, Sachit, Bajpai, Minu, Khanna, Tripti, and Kumar, Alok
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Renin-angiotensin system -- Analysis ,Genetic polymorphisms -- Influence ,Genitourinary organs -- Abnormalities ,Health - Abstract
Background This cross-sectional study aimed to determine the influence of genetic polymorphism in two renin-angiotensin system (RAS)-candidate genes on urinary trefoil family factor 3 (TFF3) levels in children with congenital anomalies of kidney and urinary tract (CAKUT). Methods The study included fifty children with CAKUT (PUV, VUR, and PUJO) and twenty age-matched controls. Urinary TFF3 levels were measured by enzyme-linked immunosorbent assay. Detection of genetic polymorphisms in two genes, i.e., I/D polymorphism (SNP at rs4340) in angiotensin-converting enzyme (ACE) and A/T polymorphism in the angiotensin II receptor type-2 (AT2R) due to point mutation at rs3736556 was performed by polymerase chain reaction. Progressive deterioration in kidney function was defined as fall in GFR to < 60 ml/min/1.73 m.sup.2 and/or progressive scarring. Results In our cohort, the genotypic distribution of patients and controls showed no difference. Progressive functional deterioration was significantly associated with the presence of D allele (p = 0.0004), A allele (p = 0.005), and both (p I/D > I/I; p A/T > TT; p < 0.0001). Also, children with both D/D and A/A allelic genotypes had significantly elevated urinary TFF3 compared to those having either of them. Conclusions The presence of D allele and/or A allele is significantly associated with progressive functional deterioration and elevated urinary TFF3 levels. These findings support the role of angiotensin II-AT2R-NF-[kappa]B interaction in progressive deterioration of kidney function and subsequent TFF3 expression in CAKUT. Graphical abstract, Author(s): Sachit Anand [sup.1] , Minu Bajpai [sup.1] , Tripti Khanna [sup.2] , Alok Kumar [sup.1] Author Affiliations: (1) grid.413618.9, 0000 0004 1767 6103, Department of Pediatric Surgery, All India [...]
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- 2022
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