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

Hdl Handle:
http://hdl.handle.net/10147/207409
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.
Authors:
Darlow, John M; Molloy, Niamh H N; Green, Andrew J; Puri, Prem; Barton, David E
Affiliation:
The Children's Research Centre, University College Dublin, Our Lady's Children's , Hospital Crumlin, Dublin 12, Ireland.
Citation:
Hum Mutat. 2009 May;30(5):E612-7.
Journal:
Human mutation
Issue Date:
1-Feb-2012
URI:
http://hdl.handle.net/10147/207409
DOI:
10.1002/humu.21009
PubMed ID:
19306327
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.
Language:
eng
MeSH:
Alleles; Amino Acid Substitution/*genetics; Canada; Case-Control Studies; European Continental Ancestry Group/*genetics; Female; France; Gene Frequency; *Genetic Predisposition to Disease; Glycine/genetics; Humans; Incidence; Ireland; Male; Mutation/*genetics; Polymorphism, Single Nucleotide/genetics; Proto-Oncogene Proteins c-ret/*genetics; Reproducibility of Results; Serine/genetics; Siblings; Urogenital Abnormalities/complications/genetics; Vesico-Ureteral Reflux/complications/*epidemiology/*genetics
ISSN:
1098-1004 (Electronic); 1059-7794 (Linking)

Full metadata record

DC FieldValue Language
dc.contributor.authorDarlow, John Men_GB
dc.contributor.authorMolloy, Niamh H Nen_GB
dc.contributor.authorGreen, Andrew Jen_GB
dc.contributor.authorPuri, Premen_GB
dc.contributor.authorBarton, David Een_GB
dc.date.accessioned2012-02-01T10:24:16Z-
dc.date.available2012-02-01T10:24:16Z-
dc.date.issued2012-02-01T10:24:16Z-
dc.identifier.citationHum Mutat. 2009 May;30(5):E612-7.en_GB
dc.identifier.issn1098-1004 (Electronic)en_GB
dc.identifier.issn1059-7794 (Linking)en_GB
dc.identifier.pmid19306327en_GB
dc.identifier.doi10.1002/humu.21009en_GB
dc.identifier.urihttp://hdl.handle.net/10147/207409-
dc.description.abstractThe 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.en_GB
dc.language.isoengen_GB
dc.subject.meshAllelesen_GB
dc.subject.meshAmino Acid Substitution/*geneticsen_GB
dc.subject.meshCanadaen_GB
dc.subject.meshCase-Control Studiesen_GB
dc.subject.meshEuropean Continental Ancestry Group/*geneticsen_GB
dc.subject.meshFemaleen_GB
dc.subject.meshFranceen_GB
dc.subject.meshGene Frequencyen_GB
dc.subject.mesh*Genetic Predisposition to Diseaseen_GB
dc.subject.meshGlycine/geneticsen_GB
dc.subject.meshHumansen_GB
dc.subject.meshIncidenceen_GB
dc.subject.meshIrelanden_GB
dc.subject.meshMaleen_GB
dc.subject.meshMutation/*geneticsen_GB
dc.subject.meshPolymorphism, Single Nucleotide/geneticsen_GB
dc.subject.meshProto-Oncogene Proteins c-ret/*geneticsen_GB
dc.subject.meshReproducibility of Resultsen_GB
dc.subject.meshSerine/geneticsen_GB
dc.subject.meshSiblingsen_GB
dc.subject.meshUrogenital Abnormalities/complications/geneticsen_GB
dc.subject.meshVesico-Ureteral Reflux/complications/*epidemiology/*geneticsen_GB
dc.titleThe increased incidence of the RET p.Gly691Ser variant in French-Canadian vesicoureteric reflux patients is not replicated by a larger study in Ireland.en_GB
dc.contributor.departmentThe Children's Research Centre, University College Dublin, Our Lady's Children's , Hospital Crumlin, Dublin 12, Ireland.en_GB
dc.identifier.journalHuman mutationen_GB
dc.description.provinceLeinster-

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