Publication: Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux
Issued Date
2010-01-01
Resource Type
ISSN
15333450
10466673
10466673
Other identifier(s)
2-s2.0-75149129654
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Mahidol University
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SCOPUS
Bibliographic Citation
Journal of the American Society of Nephrology. Vol.21, No.1 (2010), 113-123
Suggested Citation
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 Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux. Journal of the American Society of Nephrology. Vol.21, No.1 (2010), 113-123. doi:10.1681/ASN.2009060624 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/29886
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Title
Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux
Abstract
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 © 2010 by the American Society of Nephrology.