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

Heather J. Cordell^*, Rebecca Darlay^*, Pimphen Charoen^,, Aisling Stewart^*, Ambrose M. Gullett, Heather J. Lambert^||, Sue Malcolm, Sally A. Feather^¶, Timothy H.J. Goodship^*, Adrian S. Woolf, Rajko B. Kenda^**, Judith A. Goodship^* and for the UK VUR Study Group

*Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, United Kingdom;
Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom;
Department of Tropical Hygiene, Faculty of Tropical Medicine, Mahidol University, Bangkok, Thailand;
UCL Institute of Child Health, University College, London, United Kingdom;
^||Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom;
^¶St. James' University Hospital, Leeds, United Kingdom; and
**Department of Pediatric Nephrology, University Medical Centre Ljubljana, Ljubljana, Slovenia

Correspondence: Dr. Judith A. Goodship, Institute of Human Genetics, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK. Phone: +44-0-191-241-8747; Fax: +44-0-191-241-8666; E-mail: j.a.goodship{at}ncl.ac.uk

Received for publication June 17, 2009. Accepted for publication September 24, 2009.

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.

Copyright © 2009 by the American Society of Nephrology. Online ISSN: 1533-3450 Print ISSN: 1046-6673