Genetic Control of VEGF and TGF-β1 Gene Polymorphisms in Childhood Urinary Tract Infection and Vesicoureteral Reflux

Yim, Hyung Eun; Bae, In Sun; Yoo, Kee Hwan; Hong, Young Sook; Lee, Joo Won

doi:10.1203/pdr.0b013e31809871f1

Cited by 44 publications

(59 citation statements)

References 40 publications

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“…Nonetheless, in the present patient, we hypothesize that TIAF1 haploinsufficiency may have perturbed an alternative, RET-independent HSCR pathway, namely the TGF-b-signalling pathway, thus increasing not only the risk of developing intestinal aganglionosis but also, based on the control that TGF-b variants seem to exert on the pathogenesis of urinary tract infection and vesicoureteral reflux, 24 the risk of developing VUR. In particular,…”

mentioning

confidence: 75%

“…VUR has often been reported to be associated with TGF-b signal-dependent Mowat -Wilson syndrome (38%) and TGF-b1 polymorphisms have been recently shown to be associated with the susceptibility to VUR. 5,24 On the other hand, the RET gene plays a critical role in kidney development and it has been found involved in isolated congenital anomalies of the kidney. 25 Considering that, like HSCR, vesico-ureteral reflux is a genetically heterogeneous trait which may occur as a result of the complex inheritance, we suggest that contemporary defects in the two pathways (decreased RET expression and TIAF1 haploinsufficiency) may be critical for the onset of vesico-ureteral reflux in our proband and that these different pathways may be involved in other cases of either syndromic or isolated vesico-ureteral reflux or renal malformations.…”

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confidence: 99%

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Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11)

Griseri¹,

Vos

Giorda

et al. 2008

Eur J Hum Genet

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Hirschsprung's disease (HSCR), a congenital complex disorder of intestinal innervation, is often associated with other inherited syndromes. Identifying genes involved in syndromic HSCR cases will not only help understanding the specific underlying diseases, but it will also give an insight into the development of the most frequent isolated HSCR. The association between hydrocephalus and HSCR is not surprising as a large number of patients have been reported to show the same clinical association, most of them showing mutations in the L1CAM gene, encoding a neural adhesion molecule often involved in isolated X-linked hydrocephalus. L1 defects are believed to be necessary but not sufficient for the occurrence of the intestinal phenotype in syndromic cases. In this paper, we have carried out the molecular characterization of a patient affected with Hirschsprung's disease and X-linked hydrocephalus, with a de novo reciprocal balanced translocation t(3;17)(p12;q21). In particular, we have taken advantage of this chromosomal defect to gain access to the predisposing background possibly leading to Hirschsprung's disease. Detailed analysis of the RET and L1CAM genes, and molecular characterization of MYO18A and TIAF1, the genes involved in the balanced translocation, allowed us to identify, besides the L1 mutation c.2265delC, different additional factors related to RET-dependent and -independent pathways which may have contributed to the genesis of enteric phenotype in the present patient.

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confidence: 75%

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confidence: 99%

Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11)

Griseri¹,

Vos

Giorda

et al. 2008

Eur J Hum Genet

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“…Kowalewska-Pietrzak et al 30 reported that TT genotype carriers of À509 T/C polymorphism was a risk factor for renal scarring in primary vesicoureteral reflux (VUR), and was also associated with susceptibility to congenital uropathy. Yim et al 31 reported that TGF-b1 C-509T, G-800A, and T869C polymorphisms could be genetic markers of the process of urinary tract infection and VUR. Solari et al 32 reported that TGF-b1 À509 T/C gene polymorphisms may be at higher risk for reflux nephropathy.…”

Section: Discussionmentioning

confidence: 99%

Association of transforming growth factor-β1 polymorphisms with the risk of chronic kidney diseases

2015

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The association of transforming growth factor-b1 (TGF-b1) polymorphisms with the risk of chronic kidney diseases (CKD) remains elusive. We aimed to perform a meta-analysis to evaluate the relationship between TGF-b1 polymorphisms and the susceptibility to CKD. Association studies were searched according to a defined criteria using electronic databases. The strength of association between TGF-b1 polymorphisms and CKD risk was evaluated by odds ratio (OR) with the corresponding 95% confidence interval (CI). Nine case-control studies were identified. T allele at the +869 T/C polymorphism was associated with a lower risk of CKD in Asians (p ¼ 0.003). TT genotype at the +869 T/C polymorphism was associated with a lower risk of CKD in overall populations and Asians (p ¼ 0.007 and 510 À4

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“…The first studies describing the role of the 460 TϾC polymorphism were conducted on Asians (20,21). Their results indicated that the frequency of the T allele was about 75%, and the frequency of the C allele was about 25%.…”

Section: Discussionmentioning

confidence: 99%

Genetic Risk Factors of Bronchopulmonary Dysplasia

et al. 2008

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ABSTRACT:The aim of the study was to assess the association between bronchopulmonary dysplasia (BPD) and polymorphisms of genes coding for vascular endothelial growth factor (VEGF), transforming growth factor (TGF-␤1), insulin-like growth factor (IGF-1), and 5,10-methylenetetrahydrofolate reductase (MTHFR). A sample of 181 newborns with mean gestational age of 28 wk was prospectively evaluated. Molecular analysis of TGF-␤1 Ϫ800GϾA, Ϫ509CϾT, 10TϾC, 25GϾC, VEGF Ϫ460TϾC and 405GϾC and MTHFR 677CϾT polymorphisms were performed and the number of CA repeats in the promoter region of IGF-1 gene was assessed. The frequency of all TGF-␤1, IGF-1, and MTHFR polymorphisms, as well as the frequency of VEGF 405GϾC polymorphism was similar in all groups. The newborns with Ϫ460TT and Ϫ460CT genotypes were significantly overrepresented in the BPD groups compared with the no BPD group. Multivariate analysis revealed that carrying T allele increased the risk of BPD by 9% (95%CI: 2-14%) above the baseline risk established for given gestational age, length of oxygen therapy, and sex. Based on our data from a single center, we propose that VEGF Ϫ460TϾC polymorphism may influence the risk of BPD. A n increase in survival of extremely preterm infants has been associated with an increased incidence of bronchopulmonary dysplasia (BPD) (1), which has become a major clinical challenge because of its serious health consequences. Surviving infants with BPD are at higher risk for recurrent respiratory infections, bronchial hyperreactivity, repeated hospitalizations, and neurodevelopmental abnormalities (1,2).The current consensus is that BPD is a complex disease: the interaction of a susceptible host with a multitude of external risk factors underlies its pathogenesis. It is still unclear why BPD progresses to severe disease in one group of very low birth weight (VLBW) infants but regresses spontaneously in other infants with similar clinical characteristics. This difference in BPD development may result from differences in reactions to inflammatory stimuli and varied ability to tolerate oxidative stress and inflammation. Genetic foundations for the development of BPD are implicated in twin studies, which reveal highly significant concordance rates for BPD: 3.69-fold in monozygotic and 1.4-fold in dizygotic twins (3).The criteria for selection of BPD candidate genes in the present study were their potential involvement in angiogenesis and alveolarization regulating mechanisms, as well as their involvement in free radical elimination.The first factor worth examining is vascular endothelial growth factor (VEGF). VEGF is a relatively specific endothelial cell mitogen that regulates endothelial cell differentiation and angiogenesis, and plays a central role in vascular repair. VEGF has multiple roles in vascular development and maintenance and is essential for the formation of embryonic vasculature (4,5). The absence of VEGF results in impaired fetal lung microvascular development. The VEGF gene is also a good candidate because there are a consid...

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Genetic Control of VEGF and TGF-β1 Gene Polymorphisms in Childhood Urinary Tract Infection and Vesicoureteral Reflux

Cited by 44 publications

References 40 publications

Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11)

Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11)

Association of transforming growth factor-β1 polymorphisms with the risk of chronic kidney diseases

Genetic Risk Factors of Bronchopulmonary Dysplasia

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