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. 2010 Jan;21(1):113-23.
doi: 10.1681/ASN.2009060624. Epub 2009 Dec 3.

Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux

Heather J Cordell  1 , 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; UK VUR Study Group
Collaborators, Affiliations

Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux

Heather J Cordell et al. J Am Soc Nephrol. 2010 Jan.

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.

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Figures

Figure 1.
Figure 1.
Manhattan plot of the TDT statistics using the medium level of SNP selection stringency is shown.
Figure 2.
Figure 2.
Q-Q plot of TDT statistics in UK data at different levels of stringency of SNP selection is shown.
Figure 3.
Figure 3.
Q-Q plot of TDT statistics in Slovenian data at different levels of stringency of SNP selection in shown.
Figure 4.
Figure 4.
Q-Q plot of TDT statistics in combined (UK and Slovenian) data at different levels of stringency of SNP selection is shown.
See this image and copyright information in PMC

References

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