Type

Journal Article

Authors

David E. Barton
Prem Puri
Andrew J Green
Niamh H N Molloy
John M Darlow

Subjects

Microbiology

Topics
male ret protein human gene frequency alleles incidence epidemiology reproducibility of results genetic predisposition to disease ireland france european continental ancestry group siblings complications vesico ureteral reflux polymorphism single nucleotide urogenital abnormalities amino acid substitution proto oncogene proteins c ret humans serine canada mutation glycine female case control studies genetics

The increased incidence of the RET p.Gly691Ser variant in French-Canadian vesicoureteric reflux patients is not replicated by a larger study in Ireland. (2009)

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.
Collections Ireland -> University College Dublin -> PubMed

Full list of authors on original publication

David E. Barton, Prem Puri, Andrew J Green, Niamh H N Molloy, John M Darlow

Experts in our system

1
David E. Barton
University College Dublin
Total Publications: 19
 
2
Prem Puri
University College Dublin
Total Publications: 117
 
3
Andrew Green
University College Dublin
Total Publications: 25
 
4
John M Darlow
University College Dublin
Total Publications: 6