ArticleJournal of the American Society of Nephrology : JASN2009
A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13.
Article in Journal of the American Society of Nephrology : JASN, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 45 citations in OpenAlex.
- Inherited Susceptibility to Urinary Tract Infections from Kidney Papilla to Bladder.medRxiv : the preprint server for health sciences · 2026Article
- Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations.Kidney international · 2022Review
- Whole exome sequencing identifies KIF26B, LIFR and LAMC1 mutations in familial vesicoureteral reflux.PloS one · 2022Article
- A genome-wide scan to locate regions associated with familial vesicoureteral reflux.Experimental and therapeutic medicine · 2022Article
- Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux.Journal of the American Society of Nephrology : JASN · 2021Article
- Association of Genetic Polymorphisms inIranian journal of public health · 2020Article
- Children with vesicoureteric reflux have joint hypermobility and occasional tenascin XB sequence variants.Canadian Urological Association journal = Journal de l'Association des urologues du Canada · 2020Article
- DNA copy number variations in children with vesicoureteral reflux and urinary tract infections.PloS one · 2019Article
- Congenital Disorders of the Human Urinary Tract: Recent Insights From Genetic and Molecular Studies.Frontiers in pediatrics · 2019Review
- Towards precision nephrology: the opportunities and challenges of genomic medicine.Journal of nephrology · 2018Review
- Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux.Scientific reports · 2017Article
- Urinary Anomalies in 22q11.2 Deletion (DiGeorge syndrome): From Copy Number Variations to Single-Gene Determinants of Phenotype.American journal of kidney diseases : the official journal of the National Kidney Foundation · 2017Article
- Rare variants in tenascin genes in a cohort of children with primary vesicoureteric reflux.Pediatric nephrology (Berlin, Germany) · 2016Article
- Genetics of Vesicoureteral Reflux.Current genomics · 2016Article
- Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney.Kidney international · 2015Article
- Genetic, environmental, and epigenetic factors involved in CAKUT.Nature reviews. Nephrology · 2015Review
- Genetic etiology of renal agenesis: fine mapping of Renag1 and identification of Kit as the candidate functional gene.PloS one · 2015Article
- Vesicoureteric reflux and reflux nephropathy: from mouse models to childhood disease.Pediatric nephrology (Berlin, Germany) · 2014Review
- A new genome scan for primary nonsyndromic vesicoureteric reflux emphasizes high genetic heterogeneity and shows linkage and association with various genes already implicated in urinary tract development.Molecular genetics & genomic medicine · 2014Article
- A single-center cohort of Canadian children with VUR reveals renal phenotypes important for genetic studies.Pediatric nephrology (Berlin, Germany) · 2013Article
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Authors and funding
19 authors at 4 institutions in 2 countries.
Funding
Abstract
Primary vesicoureteral reflux (pVUR) is one of the most common causes of pediatric kidney failure. Linkage scans suggest that pVUR is genetically heterogeneous with two loci on chromosomes 1p13 and 2q37 under autosomal dominant inheritance. Absence of pVUR in parents of affected individuals raises the possibility of a recessive contribution to pVUR. We performed a genome-wide linkage scan in 12 large families segregating pVUR, comprising 72 affected individuals. To avoid potential misspecification of the trait locus, we performed a parametric linkage analysis using both dominant and recessive models. Analysis under the dominant model yielded no signals across the entire genome. In contrast, we identified a unique linkage peak under the recessive model on chromosome 12p11-q13 (D12S1048), which we confirmed by fine mapping. This interval achieved a peak heterogeneity LOD score of 3.6 with 60% of families linked. This heterogeneity LOD score improved to 4.5 with exclusion of two high-density pedigrees that failed to link across the entire genome. The linkage signal on chromosome 12p11-q13 originated from pedigrees of varying ethnicity, suggesting that recessive inheritance of a high frequency risk allele occurs in pVUR kindreds from many different populations. In conclusion, this study identifies a major new locus for pVUR and suggests that in addition to genetic heterogeneity, recessive contributions should be considered in all pVUR genome scans.
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