ArticleHuman molecular genetics2014
Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.
Article in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 23 citations in OpenAlex.
- Integrative genome-wide analyses identify novel loci associated with kidney stones and provide insights into its genetic architecture.Nature communications · 2023Pooled it
- Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.PLoS genetics · 2015Pooled it
- Wnt/β-Catenin Signaling and Congenital Abnormalities of Kidney and Urinary Tract.Kidney diseases (Basel, Switzerland) · 2024Review
- Bladder exstrophy-epispadias-cloacal exstrophy complex: characteristics, aetiologies, and epidemiologic findings.African urology · 2024Article
- Modelling human lower urinary tract malformations in zebrafish.Molecular and cellular pediatrics · 2023Review
- Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy.American journal of medical genetics. Part A · 2023Article
- A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy.Communications biology · 2022Article
- Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children.American journal of medical genetics. Part A · 2021Article
- Review
- Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene.Molecular genetics & genomic medicine · 2019Article
- Regulation of masculinization: androgen signalling for external genitalia development.Nature reviews. Urology · 2018Review
- Contemporary issues relating to transitional care in bladder exstrophy.Canadian Urological Association journal = Journal de l'Association des urologues du Canada · 2018Review
- Role of the LF-SINE-Derived DistalJournal of pediatric genetics · 2017Article
- The effect of 8-OH-DPAT and dapoxetine on gene expression in the brain of male rats during ejaculation.Acta pharmaceutica Sinica. B · 2017Article
- ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development.Scientific reports · 2017Article
- CNV analysis in 169 patients with bladder exstrophy-epispadias complex.BMC medical genetics · 2016Article
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Authors and funding
33 authors at 20 institutions in 5 countries.
Funding
Abstract
Bladder exstrophy-epispadias complex (BEEC), the severe end of the urorectal malformation spectrum, has a profound impact on continence as well as sexual and renal functions. It is widely accepted that for the majority of cases the genetic basis appears to be multifactorial. Here, we report the first study which utilizes genome-wide association methods to analyze a cohort comprising patients presenting the most common BEEC form, classic bladder exstrophy (CBE), to identify common variation associated with risk for isolated CBE. We employed discovery and follow-up samples comprising 218 cases/865 controls and 78 trios in total, all of European descent. Our discovery sample identified a marker near SALL1, showing genome-wide significant association with CBE. However, analyses performed on follow-up samples did not add further support to these findings. We were also able to identify an association with CBE across our study samples (discovery: P = 8.88 × 10(-5); follow-up: P = 0.0025; combined: 1.09 × 10(-6)) in a highly conserved 32 kb intergenic region containing regulatory elements between WNT3 and WNT9B. Subsequent analyses in mice revealed expression for both genes in the genital region during stages relevant to the development of CBE in humans. Unfortunately, we were not able to replicate the suggestive signal for WNT3 and WNT9B in a sample that was enriched for non-CBE BEEC cases (P = 0.51). Our suggestive findings support the hypothesis that larger samples are warranted to identify association of common variation with CBE.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.