title: G-protein beta3 subunit gene C825T polymorphism in patients with vesico-ureteric reflux.
abstract: The C825T polymorphism in the GNB3 gene encoding a beta3 subunit from heterotrimeric G-proteins correlates strongly with the variation in activity of the G-proteins. It has so far been associated with a variety of medical conditions, but has not been tested for association with vesico-ureteric reflux (VUR). Primary VUR is a condition of genetic origin that appears to be inherited in an autosomal dominant mode, but with reduced penetrance. The constitutional change in G-protein-mediated cell signaling associated with the C825T polymorphism might be one of the factors that participate in the development of VUR by modifying the effect of still unknown mutated gene(s). A significant difference in genotype frequencies (chi(2) = 7.38, P = 0.025, df = 2) was observed between patients with primary VUR (33 CC homozygotes, 40 CT heterozygotes, 12 TT homozygotes) and healthy controls with no medical record of reflux (114 CC homozygotes, 88 CT heterozygotes, 18 TT homozygotes). This result suggests that the C825T polymorphism of the GNB3 gene might be associated with the development of VUR.
authors.affiliation: Laboratory of Medical Genetics, Maribor Teaching Hospital, Ljubljanska 5, 2000 Maribor, Slovenia. boris.zagradisnik@sb-mb.si
authors.forename: Boris
authors.initials: B
authors.lastname: Zagradisnik
authors.forename: Katarina
authors.initials: K
authors.lastname: Bracic
authors.forename: Natasa Marcun
authors.initials: NM
authors.lastname: Varda
authors.forename: Nadja
authors.initials: N
authors.lastname: Kokalj Vokac
authors.forename: Alojz
authors.initials: A
authors.lastname: Gregoric
mesh_terms: D000293:Adolescent; D000483:Alleles; D019943:Amino Acid Substitution; D002648:Child; D002675:Child, Preschool; D002921:Cicatrix / Q000209:etiology / Q000473:pathology; D005260:Female; D005787:Gene Frequency; D005799:Genes, Dominant; D020022:Genetic Predisposition to Disease; D005838:Genotype; D020962:Heterotrimeric GTP-Binding Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007674:Kidney Diseases / Q000209:etiology / Q000473:pathology; D008297:Male; D020125:Mutation, Missense; D019683:Penetrance; D020641:Polymorphism, Single Nucleotide; D017524:Slovenia / Q000453:epidemiology; D014718:Vesico-Ureteral Reflux / Q000150:complications / Q000453:epidemiology / Q000235:genetics*
chemical_list: C454420:G-protein beta3 subunit; D020962:Heterotrimeric GTP-Binding Proteins