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Association of the CLCA1 p.S357N variant with meconium ileus in European patients with cystic fibrosis.

Authors
Type
Published Article
Journal
Journal of Pediatric Gastroenterology and Nutrition
0277-2116
Publisher
Ovid Technologies (Wolters Kluwer) - Lippincott Williams & Wilkins
Publication Date
Volume
50
Issue
3
Pages
347–349
Identifiers
DOI: 10.1097/MPG.0b013e3181afce6c
PMID: 20179644
Source
Medline

Abstract

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.

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