Back to search

Article

Mixed ancestry analysis of whole-genome sequencing identifies <i>TBX5</i> and <i>PTK7</i> as susceptibility genes for posterior urethral valves

2021-08-10

Abstract excerpt

Posterior urethral valves (PUV) are the commonest cause of end-stage renal disease in children, but the genetic architecture of this rare disorder remains largely unknown. We analyzed whole-genome sequencing (WGS) data from 132 unrelated PUV cases and 23,727 controls of mixed ancestry and identified statistically significant associations with common variants at 12q24.21 ( P =7.8x10 -12 ; OR 0.4) and rare variant...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
604c6f11-0a95-5f2b-9445-be20e5d8b4bc
DOI
10.1101/2021.08.09.21261801
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Mixed ancestry analysis of whole-genome sequencing identifies <i>TBX5</i> and <i>PTK7</i> as susceptibility genes for posterior urethral valvesDOI 10.1101/2021.08.09.21261801
Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valvesSemantic proximity
Whole-genome sequencing reveals contribution of rare and common variation to structural kidney and urinary tract malformationsSemantic proximity
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary TractSemantic proximity
Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic DiagnosisSemantic proximity
Mapping Genetic Susceptibility to Urinary Tract Infection from Kidney Papilla to BladderSemantic proximity
Unveiling novel susceptibility genes for kidney stone disease by a cross-tissue transcriptome-wide association study.Semantic proximity
Complex Genomic Rearrangement Involving the TBX4 Promoter Manifesting With Variable Expressivity in a Five-Generation Family.Semantic proximity
X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements.Semantic proximity
Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral RefluxSemantic proximity
Case report: A novel compound heterozygous variant in the TNXB gene causes single kidney agenesis and vesicoureteral refluxSemantic proximity
Large-scale cross-ancestry genome-wide meta-analysis of serum urate.Semantic proximity
A genome-wide association analysis of 2,622,830 individuals reveals new pathogenic pathways in goutSemantic proximity
Select a neighboring publication to make it the new centre.