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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.
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
URL: http://dx.doi.org/10.1681/ASN.2009060624
DOI: 10.1681/ASN.2009060624
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