Department of Pediatrics, School of Medical Sciences, University of Campinas, Campinas, SP, Brazil.
BMC Pulm Med. 2012 Aug 8;12:41. doi: 10.1186/1471-2466-12-41.
Cystic Fibrosis (CF) is a monogenic disease with complex expression because of the action of genetic and environmental factors. We investigated whether the ACE gene D/I polymorphism is associated with severity of CF.
A cross-sectional study was performed, from 2009 to 2011, at University of Campinas - UNICAMP. We analyzed 180 patients for the most frequent mutations in the CFTR gene, presence of the ACE gene D/I polymorphism and clinical characteristics of CF.
There was an association of the D/D genotype with early initiation of clinical manifestations (OR: 1.519, CI: 1.074 to 2.146), bacterium Burkholderia cepacia colonization (OR: 3.309, CI: 1.476 to 6.256) and Bhalla score (BS) (p = 0.015). The association was observed in subgroups of patients which were defined by their CFTR mutation genotype (all patients; subgroup I: no mutation detected; subgroup II: one CFTR allele identified to mutation class I, II or III; subgroup III: both CFTR alleles identified to mutation class I, II and/or III).
An association between the D allele in the ACE gene and the severity of CF was found in our study.
囊性纤维化（CF）是一种单基因疾病，由于遗传和环境因素的共同作用，其表达具有复杂性。我们研究了 ACE 基因 D/I 多态性是否与 CF 的严重程度有关。
这是一项在 2009 年至 2011 年期间于坎皮纳斯大学（UNICAMP）进行的横断面研究。我们分析了 180 例 CFTR 基因突变的患者，ACE 基因 D/I 多态性的存在以及 CF 的临床特征。
D/D 基因型与临床表现的早期发生（OR：1.519，CI：1.074 至 2.146）、伯克霍尔德菌属（OR：3.309，CI：1.476 至 6.256）和 Bhalla 评分（BS）（p = 0.015）相关。这种关联在 CFTR 基因突变基因型定义的患者亚组中也存在（所有患者；亚组 I：未检测到突变；亚组 II：一个 CFTR 等位基因鉴定为突变 I、II 或 III 类；亚组 III：两个 CFTR 等位基因鉴定为突变 I、II 和/或 III 类）。
本研究发现 ACE 基因中的 D 等位基因与 CF 的严重程度之间存在关联。
