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Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab Microb
Kelly, H; Molony, CM; Darlow, JM; Pirker, ME; Yoneda, A; Green, AJ; Puri, P; Barton, DE.
A genome-wide scan for genes involved in primary vesicoureteric reflux.
J Med Genet. 2007; 44(11): 710-717.
Doi: 10.1136/jmg.2007.051086
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- Co-authors Med Uni Graz
- Pirker Martina
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- Abstract:
- BACKGROUND: Vesicoureteric reflux (VUR) is the retrograde flow of urine from the bladder into the ureters. It is the most common urological anomaly in children, and a major cause of end-stage renal failure and hypertension in both children and adults. VUR is seen in approximately 1-2% of Caucasian newborns and is frequently familial. Objective and METHODS: In order to search for genetic loci involved in VUR, we performed a genome-wide linkage scan using 4710 single-nucleotide polymorphisms (SNPs) in 609 individuals from 129 Irish families with >1 affected member. RESULTS: Nonparametric linkage (NPL) analysis of the dataset yielded moderately suggestive linkage at chromosome 2q37 (NPL(max) = 2.67, p<0.001). Analysis of a subset without any additional features, such as duplex kidneys, yielded a maximum NPL score of 4.1 (p = 0.001), reaching levels of genome-wide statistical significance. Suggestive linkage was also seen at 10q26 and 6q27, and there were several smaller peaks. CONCLUSION: Our results confirm the previous conclusion that VUR is genetically heterogeneous, and support the identification of several disease-associated regions indicated by smaller studies, as well as indicating new regions of interest for investigation.
- Find related publications in this database (using NLM MeSH Indexing)
- Adult -
- Child -
- DNA Mutational Analysis -
- Female -
- Genetic Heterogeneity -
- Humans -
- Ireland - epidemiology
- Lod Score - epidemiology
- Male - epidemiology
- Middle Aged - epidemiology
- Polymorphism, Single Nucleotide - epidemiology
- Vesico-Ureteral Reflux - embryology