title: The increased incidence of the RET p.Gly691Ser variant in French-Canadian vesicoureteric reflux patients is not replicated by a larger study in Ireland.
abstract: The p.Gly691Ser variant of the RET protein, resulting from the 'A' allele of the SNP rs1799939 in exon 11 of the RET gene, was recently found to be present in a high proportion of primary vesicoureteric reflux (pVUR) patients in Quebec. We have determined the genotype of this SNP in 221 unrelated index cases of pVUR from the Irish population, in 190 full siblings of 160 of the index cases, and in 592 healthy controls. We found no significant difference in genotype or allele frequencies in patients and controls, and no tendency of affected siblings to share the same genotype. We also found no difference in the presence of additional phenotypic features such as duplex kidneys, between patients with and without the 'A' allele, and no difference in grade of reflux. We find no evidence of any influence of RET SNP rs1799939 on pVUR phenotype.
authors.affiliation: The Children's Research Centre, University College Dublin, Our Lady's Children's Hospital Crumlin, Dublin 12, Ireland.
authors.forename: John M
authors.initials: JM
authors.lastname: Darlow
authors.forename: Niamh H N
authors.initials: NH
authors.lastname: Molloy
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Green
authors.forename: Prem
authors.initials: P
authors.lastname: Puri
authors.forename: David E
authors.initials: DE
authors.lastname: Barton
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution / Q000235:genetics*; D002170:Canada; D016022:Case-Control Studies; D005260:Female; D005602:France; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005998:Glycine / Q000235:genetics; D006801:Humans; D015994:Incidence; D007494:Ireland; D008297:Male; D009154:Mutation / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics*; D015203:Reproducibility of Results; D012694:Serine / Q000235:genetics; D035781:Siblings; D014564:Urogenital Abnormalities / Q000150:complications / Q000235:genetics; D014718:Vesico-Ureteral Reflux / Q000150:complications / Q000453:epidemiology* / Q000235:genetics*; D044465:White People / Q000235:genetics*
chemical_list: D012694:Serine; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human; D005998:Glycine