A common variant of the PAX2 gene is associated with reduced newborn kidney size

Department of Obstetrics and Gynecology, McGill University, Montréal, Quebec, Canada
Journal of the American Society of Nephrology (Impact Factor: 9.47). 07/2007; 18(6):1915-21. DOI: 10.1681/ASN.2006101107
Source: PubMed

ABSTRACT Congenital nephron number ranges widely in the human population. Suboptimal nephron number may be associated with increased risk for essential hypertension and susceptibility to renal injury, but the factors that set nephron number during kidney development are unknown. In renal-coloboma syndrome, renal hypoplasia and reduced nephron number are due to heterozygous mutations of the PAX2 gene. This study tested for an association between a common haplotype of the PAX2 gene and subtle renal hypoplasia in normal newborns. A PAX2 haplotype was identified to occur in 18.5% of the newborn cohort, which was significantly associated with a 10% reduction in newborn kidney volume adjusted for body surface area. This haplotype was also associated with reduced allele-specific PAX2 mRNA level in a human renal cell carcinoma cell line. Subtle renal hypoplasia in normal newborns may be partially due to a common variant of the PAX2 gene that reduces mRNA expression during kidney development.

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Available from: Hui-Qi Qu, Jul 07, 2015
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    • "Some authors believe that PAX2 acts by regulating the interaction between the UB and the metanephric blastema. This interaction seems to be one of the critical phases for the occurrence of the UB branching (Dziarmaga et al., 2006; Quinlan et al., 2007). It was suggested that PAX2 activates intermediate factors that transiently lead UB cells to avoid programmed cell death during branching morphogenesis in fetal kidney by suppressing apoptosis in renal collecting ducts (Torban et al., 2000). "
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