Lack of replication of celiac disease risk variants reported in a Spanish population using an independent Spanish sample.
Genes Immun
; 10(7): 659-61, 2009 Oct.
Article
em En
| MEDLINE
| ID: mdl-19626039
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença Celíaca
/
Proteínas Proto-Oncogênicas
/
Precursor de Proteína beta-Amiloide
/
Fosfoproteínas Fosfatases
/
Receptores de Superfície Celular
/
Proteínas de Homeodomínio
/
Predisposição Genética para Doença
Tipo de estudo:
Etiology_studies
/
Observational_studies
/
Risk_factors_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2009
Tipo de documento:
Article