CLCA4 variants determine the manifestation of the cystic fibrosis basic defect in the intestine.

ABSTRACT: The manifestation of the monogenic disease cystic fibrosis results from the cystic fibrosis transmembrane conductance regulator (CFTR)-mediated basic defect defined as an altered chloride transport. An association study using contrasting endophenotypes was conducted with 17 markers to allow fine-mapping of a previously reported association signal within the CLCA gene cluster. Markers were analyzed for association with the manifestation of the basic defect in the patient population of the European CF Twin and Sibling Study composed of 101 families with a total of 171 patients. The manifestation of the basic defect was associated with markers rs11807298-rs6684219, encompassing the CLCA4 promoter (Praw=0.0013; Pcorr=0.0157). Refined analysis of the CLCA4 association signal among F508del homoz

SUBMITTER: Kolbe EW 

PROVIDER: S-EPMC3658199 | biostudies-literature | 2013 Jun

REPOSITORIES: biostudies-literature