Association of angiotensin converting enzyme and angiotensin type 2 receptor gene polymorphisms with renal damage in posterior urethral valves

Narasimhan, Kannan Laksmi; Khullar, Madhu; Kaur, Baljit; Ahuja, Monica; Kumar, Mahajan Jai; Rai, Mittal Bhagwant; Bhattacharya, Anish; Medhi, Bikash

doi:10.1016/j.jpurol.2010.01.002

Cited by 18 publications

(8 citation statements)

References 27 publications

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“…One recent study demonstrated an association between PUV and two renin-angiotensin system gene polymorphisms including angiotensin converting enzyme insertion/deletion ( ACE I/D) and angiotensin type 2 receptor ( AT2R A1332G) [Laksmi et al, 2010]. Specifically, a significantly higher frequency of the AT2R GG genotype was found among PUV patients as compared to control subjects.…”

Section: Discussionmentioning

confidence: 99%

“…Specifically, a significantly higher frequency of the AT2R GG genotype was found among PUV patients as compared to control subjects. Both the ACE DD and the AT2R GG genotypes were also associated with more severe renal disease in PUV patients [Laksmi et al, 2010]. ACE DD genotype has been implicated in affecting the activity of the Renin-Angiotensin System while the AT2R polymorphism has been associated with abnormal splicing resulting in shorter length mRNA and defective protein synthesis [Laksmi et al, 2010].…”

Section: Discussionmentioning

confidence: 99%

“…Both the ACE DD and the AT2R GG genotypes were also associated with more severe renal disease in PUV patients [Laksmi et al, 2010]. ACE DD genotype has been implicated in affecting the activity of the Renin-Angiotensin System while the AT2R polymorphism has been associated with abnormal splicing resulting in shorter length mRNA and defective protein synthesis [Laksmi et al, 2010]. While we did not investigate gene polymorphisms in the etiology of our PUV cases, we can effectively rule out large (>20 Kb) CNVs including ACE as a common cause of PUV.…”

Section: Discussionmentioning

confidence: 99%

“…Very few studies have investigated gene variants and PUV [Laksmi et al, 2010; Caruana et al, 2015]. To our knowledge only one study has examined copy number variants (CNVs) in the etiology of birth defects of the kidney and urinary tract, including 29 patients with PUV with or without other associated defects [Caruana et al, 2015].…”

Section: Introductionmentioning

confidence: 99%

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Rare copy number variants implicated in posterior urethral valves

Boghossian

Sicko

Kay

et al. 2015

American J of Med Genetics Pt A

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The cause of posterior urethral valves (PUV) is unknown, but genetic factors are suspected given their familial occurrence. We examined cases of isolated PUV to identify novel copy number variants (CNVs). We identified 56 cases of isolated PUV from all live-births in New York State (1998–2005). Samples were genotyped using Illumina HumanOmni2.5 microarrays. Autosomal and sex-linked CNVs were identified using PennCNV and cnvPartition software. CNVs were prioritized for follow-up if they were absent from in-house controls, contained ≥10 consecutive probes, were ≥20 Kb in size, had ≤20% overlap with variants detected in other birth defect phenotypes screened in our lab, and were rare in population reference controls. We identified 47 rare candidate PUV-associated CNVs in 32 cases; one case had a 3.9 Mb deletion encompassing BMP7. Mutationsin BMP7 have been associated with severe anomalies in the mouse urethra. Other interesting CNVs, each detected in a single PUV case included: a deletion of PIK3R3 and TSPAN1, duplication/triplication in FGF12, duplication of FAT1—a gene essential for normal growth and development, a large deletion (>2 Mb) on chromosome 17q that involves TBX2 and TBX4, and large duplications (>1 Mb) on chromosomes 3q and 6q. Our finding of previously unreported novel CNVs in PUV suggests that genetic factors may play a larger role than previously understood. Our data show a potential role of CNVs in up to 57% of cases examined. Investigation of genes in these CNVs may provide further insights into genetic variants that contribute to PUV.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Rare copy number variants implicated in posterior urethral valves

Boghossian

Sicko

Kay

et al. 2015

American J of Med Genetics Pt A

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“…In this study, the ACE I/D polymorphism in the secondary hypertensives show that susceptibility to Henoch-Schönlein purpura (HSP) [ 16 ]. Similar polymorphisms are associated with posterior urethral valves (PUV) disease and chronic renal disease [ 17 ].…”

Section: Discussionmentioning

confidence: 99%

GenePolymorphisms of Adducin GLY460TRP, ACE I/D, AND AGT M235T in Pediatric Hypertension Patients

et al. 2014

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BackgroundHypertension is a major global public health problem that affects both pediatric and adult populations. ACE I/D, AGT M235T, and ADD Gly460Trp polymorphisms are thought to be associated with primary hypertension. In the present study, we examined the frequency of these polymorphisms in a pediatric population with secondary hypertension.Material/MethodsIncluded in the study were 58 hypertensive and 58 normotensive pediatric patients. ACE I/D and AGT M235T polymorphisms are determined by conventional PCR; ADD Gly460Trp polymorphism was investigated using PCR amplification of genomic DNA.ResultsThere were significant differences between the control group and pediatric hypertensive group in terms of ACE I/D (P<0.05) and AGT M235T (P<0.05) polymorphisms, but there were no differences in ADD Gly460Trp (P>0.05) polymorphism.ConclusionsWe suggest that RAS gene polymorphisms (ACE-I/D, AGT M235T) are significantly associated with susceptibility to diseases that lead to secondary hypertension.

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Lower urinary tract development and disease

Rasouly

2013

WIREs Mechanisms of Disease

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Congenital Anomalies of the Lower Urinary Tract (CALUT) are a family of birth defects of the ureter, the bladder and the urethra. CALUT includes ureteral anomalies such as congenital abnormalities of the ureteropelvic junction (UPJ) and ureterovesical junction (UVJ), and birth defects of the bladder and the urethra such as bladder-exstrophy-epispadias complex (BEEC), prune belly syndrome (PBS), and posterior urethral valves (PUV). CALUT is one of the most common birth defects and is often associated with antenatal hydronephrosis, vesicoureteral reflux (VUR), urinary tract obstruction, urinary tract infections (UTI), chronic kidney disease and renal failure in children. Here, we discuss the current genetic and molecular knowledge about lower urinary tract development and genetic basis of CALUT in both human and mouse models. We provide an overview of the developmental processes leading to the formation of the ureter, bladder, and urethra, and different genes and signaling pathways controlling these developmental processes. Human genetic disorders that affect the ureter, bladder and urethra and associated gene mutations are also presented. As we are entering the post-genomic era of personalized medicine, information in this article may provide useful interpretation for the genetic and genomic test results collected from patients with lower urinary tract birth defects. With evidence-based interpretations, clinicians may provide more effective personalized therapies to patients and genetic counseling for their families.

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Association of angiotensin converting enzyme and angiotensin type 2 receptor gene polymorphisms with renal damage in posterior urethral valves

Cited by 18 publications

References 27 publications

Rare copy number variants implicated in posterior urethral valves

Rare copy number variants implicated in posterior urethral valves

GenePolymorphisms of Adducin GLY460TRP, ACE I/D, AND AGT M235T in Pediatric Hypertension Patients

Lower urinary tract development and disease

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