Toggle Main Menu Toggle Search

Open Access padlockePrints

Whole-Genome Linkage and Association Scan in Primary, Nonsyndromic Vesicoureteric Reflux

Lookup NU author(s): Professor Heather Cordell, Dr Rebecca Darlay, Dr Heather Lambert, Professor Tim Goodship, Dr Rajko Kenda, Professor Judith Goodship



Primary vesicoureteric reflux accounts for approximately 10% of kidney failure requiring dialysis or transplantation, and sibling studies suggest a large genetic component. Here, we report a whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux and reflux nephropathy. We used linkage and family-based association approaches to analyze 320 white families (661 affected individuals, generally from families with two affected siblings) from two populations (United Kingdom and Slovenian). We found modest evidence of linkage but no clear overlap with previous studies. We tested for but did not detect association with six candidate genes (AGTR2, HNF1B, PAX2, RET, ROBO2, and UPK3A). Family-based analysis detected associations with one single-nucleotide polymorphism (SNP) in the UK families, with three SNPs in the Slovenian families, and with three SNPs in the combined families. A case-control analysis detected associations with three additional SNPs. The results of this study, which is the largest to date investigating the genetics of reflux, suggest that major loci may not exist for this common renal tract malformation within European populations.

Publication metadata

Author(s): Cordell HJ, Darlay R, Charoen P, Stewart A, Gullett AM, Lambert HJ, Malcolm S, Feather SA, Goodship THJ, Woolf AS, Kenda RB, Goodship JA, UK VUR Study Grp

Publication type: Article

Publication status: Published

Journal: Journal of the American Society of Nephrology

Year: 2010

Volume: 21

Issue: 1

Pages: 113-123

Date deposited: 18/03/2010

ISSN (print): 1046-6673

ISSN (electronic): 1533-3450

Publisher: American Society of Nephrology


DOI: 10.1681/ASN.2009060624


Altmetrics provided by Altmetric


Funder referenceFunder name
British Association for Pediatric Nephrology (BAPN)
066647Wellcome Trust
070327Wellcome Trust
074524Wellcome Trust
G0600040Medical Research Council (MRC)