In Cftr-/- mice that mostly die because of intestinal obstruction, intestinal expression of Clca3 is decreased, whereas upregulation of Clca3 results in amelioration of intestinal disease. The aim of the study was to investigate whether the p.S357N variant in CLCA1, the human orthologue of Clca3, acts as a modifier gene in a cohort of 682 European patients with cystic fibrosis (CF)-99 patients with meconium ileus. The 357SS genotype was significantly overrepresented in both patients with meconium ileus and also with a severe CFTR genotype (P = 0.009) and in p.F508del homozygotes (P = 0.002). This suggests that CLCA1 has similar important functions in CF-related intestinal obstruction in humans as in Cftr-/- mice. Copyright
Association of the CLCA1 p.S357N variant with meconium ileus in European patients with cystic fibrosis / H.P. Van Der Doef, M.G. Slieker, D. Staab, B.Z. Alizadeh, M. Seia, C. Colombo, C.K. Van Der Ent, R. Nickel, H. Witt, R.H. Houwen. - In: JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION. - ISSN 0277-2116. - 50:3(2010 Mar), pp. 347-349.
|Titolo:||Association of the CLCA1 p.S357N variant with meconium ileus in European patients with cystic fibrosis|
|Settore Scientifico Disciplinare:||Settore MED/03 - Genetica Medica|
Settore MED/12 - Gastroenterologia
|Data di pubblicazione:||mar-2010|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1097/MPG.0b013e3181afce6c|
|Appare nelle tipologie:||01 - Articolo su periodico|