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A Common Variant of the PAX2 Gene Is Associated with Reduced Newborn Kidney Size

Jacklyn Quinlan^*, Mathieu Lemire, Thomas Hudson, Huiqi Qu^*, Alice Benjamin, Anne Roy, Elena Pascuet^*, Meigan Goodyer^*, Chandhana Raju^*, Zhao Zhang^*, Fiona Houghton^* and Paul Goodyer^*

^* Montreal Children’s Hospital Research Institute and Departments of Obstetrics and Gynecology and Radiology, McGill University, and McGill University and Genome Quebec Innovation Centre, Montreal, Quebec, Canada

Address correspondence to: Dr. Paul Goodyer, 4060 Saint Catherine West, PT-413, Montreal, Quebec, Canada H3Z 2Z3. Phone: 514-412-4461; Fax: 514-412-4478; E-mail: paul.goodyer{at}mcgill.ca

Received for publication October 11, 2006. Accepted for publication March 26, 2007.

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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Copyright © 2008 by the American Society of Nephrology. Online ISSN: 1533-3450 Print ISSN: 1046-6673