TGFB1−509C/T多态性基因与囊性纤维化患者临床变异性的关联:一项病例对照研究

Pathologie-biologie Pub Date : 2015-09-01 DOI:10.1016/j.patbio.2015.07.003

S. Oueslati, S. Hadj Fredj, B. Dakhlaoui, R. Othmani, H. Siala, T. Messaoud

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引用次数: 2

摘要

在这项工作中，我们有兴趣研究位于TGFB1(转化生长因子β1)启动子区域的−509C/T多态性在CF患者表型变异性中的意义。患者和方法本研究纳入了111例CF患者和100例健康对照。采用PCR-RFLP方法对−509C/T多态性进行研究。结果TT基因型非f508del纯合突变与肺部症状相关(P = 0.04)。在F508del纯合子状态患者亚组中未发现这种关联P = 0.145。没有发现这种多态性与消化、胰腺和肠梗阻症状的变异性之间的关联。结论TGFB1基因的- 509C/T多态性可能是囊性纤维化的调节因子。

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Association of TGFB1 −509C/T polymorphism gene with clinical variability in cystic fibrosis patients: A case-control study

Purpose

In this work, we are interested to study the implication of −509C/T polymorphism, located in the promoter region of TGFB1 (transforming growth factor β1), in the phenotypic variability of CF patients.

Patients and methods

The present study enrolled 111 CF patients and 100 healthy control subjects. The study of the −509C/T polymorphism was performed using PCR-RFLP method.

Results

We found that patients carried non-F508del homozygous mutation with TT genotype was associated to lung symptoms (P = 0.04). This association was not found in the sub-groups of patients with F508del at homozygous state P = 0.145. No association was found between this polymorphism and the variability of digestive, pancreatic and ileus meconial symptoms.