title: A common variant of the PAX2 gene is associated with reduced newborn kidney size.
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.
authors.affiliation: Montreal Children's Hospital Research Institute, 4060 Saint Catherine West, PT-413, Montreal, Quebec, Canada.
authors.forename: Jacklyn
authors.initials: J
authors.lastname: Quinlan
authors.forename: Mathieu
authors.initials: M
authors.lastname: Lemire
authors.forename: Thomas
authors.initials: T
authors.lastname: Hudson
authors.forename: Huiqi
authors.initials: H
authors.lastname: Qu
authors.forename: Alice
authors.initials: A
authors.lastname: Benjamin
authors.forename: Anne
authors.initials: A
authors.lastname: Roy
authors.forename: Elena
authors.initials: E
authors.lastname: Pascuet
authors.forename: Meigan
authors.initials: M
authors.lastname: Goodyer
authors.forename: Chandhana
authors.initials: C
authors.lastname: Raju
authors.forename: Zhao
authors.initials: Z
authors.lastname: Zhang
authors.forename: Fiona
authors.initials: F
authors.lastname: Houghton
authors.forename: Paul
authors.initials: P
authors.lastname: Goodyer
mesh_terms: D000483:Alleles; D005260:Female; D018507:Gene Expression Regulation, Developmental; D014644:Genetic Variation; D006239:Haplotypes; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities* / Q000473:pathology* / Q000502:physiology; D015810:Linkage Disequilibrium; D008297:Male; D009929:Organ Size; D051762:PAX2 Transcription Factor / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012333:RNA, Messenger / Q000378:metabolism
chemical_list: D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human; D012333:RNA, Messenger