Department of Pediatrics and Institute of Allergy, Brain Korea 21 Project for Medical Science, Severance Biomedical Science Institute, Yonsei University College of Medicine, Seoul, Korea.
Yonsei Med J. 2010 Nov;51(6):912-7. doi: 10.3349/ymj.2010.51.6.912.
Classic cystic fibrosis is now known part of cystic fibrosis transmembrane conductance regulator (CFTR)-related disorders. These include a wide spectrum, from multi-system disorders, such as cystic fibrosis, to mono-symptomatic conditions, such as chronic pancreatitis or congenital bilateral absence of the vas deferens. However, respiratory disease is considered typical for the multi system disorder, cystic fibrosis, and is the major cause of morbidity and mortality. The purpose of this study was to evaluate the potential effects of CFTR gene mutations in Korean children with asthma.
We selected 14 mutations identified in Korea and each of the 48 children with and without asthma were genotyped for the case-control study.
No significant differences were found in genotype and allele frequencies of the 9 polymorphisms observed between the non-asthma and asthma groups. In a haplotype determination based on a Bayesian algorithm, 8 haplotypes were assembled in the 98 individuals tested. However, we also did not find any significant differences in haplotype frequencies between the non-asthma and asthma groups.
We have concluded that this study did not show any evidence in support of providing that CFTR genetic variations significantly contribute to the susceptibility of asthma in Korean children.
经典的囊性纤维化现在被认为是囊性纤维化跨膜电导调节因子（CFTR）相关疾病的一部分。这些疾病包括从多系统疾病，如囊性纤维化，到单症状疾病，如慢性胰腺炎或先天性双侧输精管缺失的广泛谱。然而，呼吸系统疾病被认为是多系统疾病囊性纤维化的典型表现，也是发病率和死亡率的主要原因。本研究旨在评估 CFTR 基因突变在韩国哮喘儿童中的潜在影响。
我们选择了在韩国发现的 14 种突变，并对 48 名哮喘和非哮喘儿童进行了病例对照研究的基因分型。
在非哮喘和哮喘组之间观察到的 9 个多态性的基因型和等位基因频率没有显著差异。在基于贝叶斯算法的单倍型确定中，在测试的 98 个人中组装了 8 个单倍型。然而，我们也没有发现非哮喘和哮喘组之间的单倍型频率有任何显著差异。
我们得出的结论是，这项研究没有提供任何证据支持 CFTR 遗传变异显著增加韩国儿童哮喘易感性。
