Abstract
Primary hyperoxaluria type 1 (PH1) is a rare genetic kidney disease caused by a deficiency of alanine:glyoxylate aminotransferase (AGT). Genetic heterogeneity of the AGT gene cannot fully account for heterogeneity in the clinical phenotype. This study investigates a possible contribution to the clinical phenotype from SNPs in RET or PAX2 genes associated with reduced nephron number. The frequencies of these SNPs were compared in PH1-affected DNA samples and normal controls, and relative to age of onset in PH1-affected individuals. The frequencies of the risk alleles were higher with early age of onset, although not significantly so. However, homozygosity for the risk alleles of RET and PAX2 was not seen in the late onset group. The overall frequencies of risk alleles and the numbers of homozygotes were significantly higher for PAX2 in PH1 samples versus controls, suggestive of a bias towards more severe clinical phenotypes in the PH1 samples submitted for analysis.
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