title: Lack of replication of celiac disease risk variants reported in a Spanish population using an independent Spanish sample.
abstract: Celiac disease (CD) is an inflammatory condition affecting small bowel and triggered by gluten (or related proteins) ingestion in genetic susceptible individuals. Polymorphisms in three genes, SERPINE2, PPP6C and PBX3, have recently been associated with CD in the Spanish population. However, this association could not be replicated in the UK population using imputed data. As this second study analyzed a different population, we aimed at reevaluating the role of those polymorphisms using an independent Spanish sample. We genotyped three single nucleotide polymorphisms: rs6747096 in SERPINE2, rs458046 in PPP6C and rs7040561 in PBX3, in 417 CD patients, 527 ethnically matched healthy controls and parents of 304 CD patients. A case-control study using the chi(2)-test and a familial study using the transmission disequilibrium test were performed. No association was detected in those analyses. Therefore, our results seem to discard the role of the previously described polymorphisms in SERPINE2, PPP6C and PBX3 in CD susceptibility.
authors.affiliation: Servicio de Inmunología Clínica, Hospital Clínico San Carlos, Madrid, Spain.
authors.forename: B
authors.initials: B
authors.lastname: Dema
authors.forename: A
authors.initials: A
authors.lastname: Martínez
authors.forename: M
authors.initials: M
authors.lastname: Fernández-Arquero
authors.forename: C
authors.initials: C
authors.lastname: Maluenda
authors.forename: I
authors.initials: I
authors.lastname: Polanco
authors.forename: E G
authors.initials: EG
authors.lastname: de la Concha
authors.forename: E
authors.initials: E
authors.lastname: Urcelay
authors.forename: C
authors.initials: C
authors.lastname: Núñez
mesh_terms: D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D016022:Case-Control Studies; D002446:Celiac Disease / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D010749:Phosphoprotein Phosphatases / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D058255:Protease Nexins; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D011956:Receptors, Cell Surface / Q000235:genetics*; D058258:Serpin E2
chemical_list: D016564:Amyloid beta-Protein Precursor; D018398:Homeodomain Proteins; D058255:Protease Nexins; D011518:Proto-Oncogene Proteins; D011956:Receptors, Cell Surface; C545486:SERPINE2 protein, human; D058258:Serpin E2; C090466:proto-oncogene protein Pbx3; D010749:Phosphoprotein Phosphatases; C106079:protein phosphatase 6