CLCA1 p.S357N 变异与欧洲囊性纤维化患者胎粪性肠梗阻的关联。
Association of the CLCA1 p.S357N variant with meconium ileus in European patients with cystic fibrosis.
机构信息
Department of Pediatric Gastroenterology, University Medical Center Utrecht, Utrecht, The Netherlands.
出版信息
J Pediatr Gastroenterol Nutr. 2010 Mar;50(3):347-9. doi: 10.1097/MPG.0b013e3181afce6c.
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.
在因肠梗阻而大部分死亡的 Cftr-/- 小鼠中，Clca3 的肠道表达减少，而 Clca3 的上调则可改善肠道疾病。本研究的目的是在 682 名欧洲囊性纤维化（CF）患者队列中调查 CLCA1（Clca3 的人类同源物）中的 p.S357N 变体是否作为一个修饰基因。99 名患有胎粪性肠梗阻的患者中，357SS 基因型明显过表达，而且 CFTR 基因型严重（P = 0.009），而且 p.F508del 纯合子（P = 0.002）。这表明 CLCA1 在人类 CF 相关肠梗阻中的作用与 Cftr-/- 小鼠相似。
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