Protective Locus Against Renal Scarring on Chromosome 11 in Affected Sib Pairs with Familial Vesicoureteral Reflux Identified by Single Nucleotide Polymorphism Linkage Analysis

2012 
Purpose: We identified the loci associated with renal scarring risk and protection in affected sib pairs with familial vesicoureteral reflux.Materials and Methods: A genome-wide analysis of vesicoureteral reflux with high density single nucleotide polymorphisms was conducted in 43 families with 2 or more affected children. A total of 43 probands and 58 affected siblings were included in the analysis. Genomic DNA was extracted from blood or saliva from all patients. All nuclear families had complete parental genotypes and all were Caucasian. Renal scarring was present in 23 of the 43 probands as detected by dimercapto-succinic acid imaging. easyLINKAGE software was used for the genome-wide linkage analysis. A LOD (logarithm [base 10] of odds) score of 3.3 or greater was considered significant evidence of linkage and a LOD score of 2.4 or greater but less than 3.3 was considered suggestive evidence of linkage.Results: Using the affected sib pair method of analysis, a statistically significant linkage peak w...
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