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Vascular Endothelial Growth Factor (VEGF) Gene Promoter Polymorphisms and Disease Progression in North Indian Cohort with Autosomal Dominant Polycystic Kidney Disease.

ABSTRACT: Autosomal dominant polycystic kidney disease (ADPKD) is characterized by a significant phenotypic variability in progression of the disease. Vascular endothelial growth factor (VEGF) has been reported to play a major role in renal pathophysiology. The aim of the present case-control study was to evaluate the association of two promoter polymorphisms (-2578C>A and-1154G>A) of VEGF gene and ADPKD. Genotyping was carried out in 123 ADPKD patients and 100 healthy controls, using a polymerase chain reaction-restriction fragment length polymorphism technique (PCR-RFLP). The genotype, allele and haplotype frequencies of these two polymorphisms in ADPKD patients were compared with those in controls, as well as in patients with early and advanced chronic kidney disease (CKD) stages, using Chi-square (?2) test. The distribution frequency of CC, CA and AA genotypes of -2578C>A polymorphism differed significantly between patients and controls (0.31, 0.63 and 0.06 vs 0.37, 0.44 and 0.19, respectively (P=0.003)), but no significantly different genotype distribution was observed for the-1154G>A polymorphism. The A allele of -2578C>A and G allele of -1154G>A, were significantly more present in the controls as compared to the patients, and may provide protection for CKD under recessive (OR, 3.73; 95% CI, 1.45-9.62; P=0.0042), and dominant (OR, 0.55; 95%CI, 0.31-0.98; P=0.041) models. The [A;G] haplotype was more frequently present in controls (18%) than in cases (8%), (OR 0.398; 95% CI 0.22-0.71; P=0.002). These results suggest that the two promoter polymorphisms of VEGF may modify the disease risk in ADPKD patients from North India.

SUBMITTER: Pandita S

PROVIDER: S-EPMC5898640 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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Vascular Endothelial Growth Factor (VEGF) Gene Promoter Polymorphisms and Disease Progression in North Indian Cohort with Autosomal Dominant Polycystic Kidney Disease.

Pandita Shewata S Maurya Deepshikha D Ramachandran Vijaya V Verma Jyotsna J Kohli Sudha S Saxena Renu R Verma Ishwar Chander IC

International journal of molecular and cellular medicine 20170926 3

Autosomal dominant polycystic kidney disease (ADPKD) is characterized by a significant phenotypic variability in progression of the disease. Vascular endothelial growth factor (<i>VEGF</i>) has been reported to play a major role in renal pathophysiology. The aim of the present case-control study was to evaluate the association of two promoter polymorphisms (-2578C>A and-1154G>A) of <i>VEGF</i> gene and ADPKD. Genotyping was carried out in 123 ADPKD patients and 100 healthy controls, using a poly ...[more]

PMID: 29682488

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Project description:BACKGROUND AND OBJECTIVES:Both increased arterial stiffness and vascular endothelial dysfunction are evident in patients with autosomal dominant polycystic kidney disease, even early in the course of the disease when kidney function in preserved. Vascular dysfunction in autosomal dominant polycystic kidney disease is thought to be related to vascular oxidative stress and inflammation, but direct evidence is lacking. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS:We assessed carotid-femoral pulse-wave velocity (arterial stiffness) and brachial artery flow-mediated dilation (vascular endothelial function) in participants with early-stage autosomal dominant polycystic kidney disease (eGFR?60 ml/min per 1.73 m2) and a history of controlled hypertension and in healthy controls. Brachial artery flow-mediated dilation was also assessed after infusion of ascorbic acid to inhibit vascular oxidative stress compared with saline. Vascular endothelial cells were collected from a peripheral vein to measure expression of proteins, and circulating markers were also assessed by ELISA or liquid chromatography-tandem mass spectrometry. RESULTS:In total, 61 participants with autosomal dominant polycystic kidney disease (34±9 years old [mean±SD]) and 19 healthy controls (30±5 years old) were studied. Carotid-femoral pulse-wave velocity was higher in participants with autosomal dominant polycystic kidney disease compared with healthy controls (650±131 versus 562±81 cm/s; P=0.007). Brachial artery flow-mediated dilation was 8.2%±5.8% in participants with autosomal dominant polycystic kidney disease and 10.8%±4.7% in controls (P=0.08). Among participants with autosomal dominant polycystic kidney disease, flow-mediated dilation increased from 7.7%±4.5% to 9.4%±5.2% with ascorbic acid, a difference of 1.72 (95% confidence interval, 0.80 to 2.63), whereas in control participants, flow-mediated dilation decreased nonsignificantly from 10.8%±4.7% to 10.6%±5.4%, a difference of -0.20 (95% confidence interval, -1.24 to 0.84; P interaction =0.02). Endothelial cell protein expression of NF-?B was greater in participants with autosomal dominant polycystic kidney disease (0.48±0.12 versus 0.41±0.10 [intensity versus human umbilical vein endothelial cell control]; P=0.03). However, circulating oxidative stress markers and bioactive lipid mediators did not significantly differ according to the autosomal dominant polycystic kidney disease diagnosis. CONCLUSIONS:These results provide support for the hypothesis that vascular oxidative stress and inflammation develop with autosomal dominant polycystic kidney disease. PODCAST:This article contains a podcast at https://www.asn-online.org/media/podcast/CJASN/2018_09_18_CJASNPodcast_18_10_.mp3.

Dataset Information

Vascular Endothelial Growth Factor (VEGF) Gene Promoter Polymorphisms and Disease Progression in North Indian Cohort with Autosomal Dominant Polycystic Kidney Disease.

Publications

Vascular Endothelial Growth Factor (VEGF) Gene Promoter Polymorphisms and Disease Progression in North Indian Cohort with Autosomal Dominant Polycystic Kidney Disease.

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