van de Vosse Esther, Ali Soegianto, de Visser Adriëtte W, Surjadi Charles, Widjaja Suwandhi, Vollaard Albert M, van Dissel Jaap T
Department of Infectious Diseases, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands.
Hum Genet. 2005 Oct;118(1):138-40. doi: 10.1007/s00439-005-0005-0. Epub 2005 Oct 28.
The cystic fibrosis transmembrane conductance regulator (CFTR) is the affected protein in cystic fibrosis (CF). The high rate of CF carriers has led to speculation that there must be, similar to the sickle cell haemoglobin advantage in malaria, a selective advantage for heterozygotes. Such a selective advantage may be conferred through reduced attachment of Salmonella typhi to intestinal mucosa, thus providing resistance to typhoid fever. We tested this hypothesis by genotyping patients and controls in a typhoid endemic area in Indonesia for two highly polymorphic markers in CFTR and the most common CF mutation. We found an association between genotypes in CFTR and susceptibility to typhoid fever (OR=2.6). These analyses suggest that the role CFTR plays in vitro in S. typhi infection is also important for infection in the human population.
囊性纤维化跨膜传导调节因子（CFTR）是囊性纤维化（CF）中受影响的蛋白质。CF携带者的高比例引发了一种推测，即类似于疟疾中镰状细胞血红蛋白的优势，杂合子必定存在某种选择优势。这种选择优势可能是通过减少伤寒沙门氏菌与肠道黏膜的附着来实现的，从而提供对伤寒热的抵抗力。我们通过对印度尼西亚伤寒流行地区的患者和对照进行基因分型，检测CFTR中的两个高度多态性标记和最常见的CF突变，来验证这一假设。我们发现CFTR基因型与伤寒热易感性之间存在关联（比值比=2.6）。这些分析表明，CFTR在体外对伤寒沙门氏菌感染所起的作用在人群感染中也很重要。
