The ACE gene D/I polymorphism as a modulator of severity of cystic fibrosis

BMC Pulmonary Medicine

Antônio F Ribeiro²  Luciana C Bonadia¹  José D Ribeiro²  Taís D R Hortencio²  Carmen S Bertuzzo¹  Fernando A L Marson² 

[1] Department of Genetics, Faculty of Medical Sciences, University of Campinas, P.O. Box: 6111, Campinas, SP, 13081-970, Brazil;Department of Pediatrics, School of Medical Sciences, University of Campinas, P.O. Box: 6111, Campinas, SP, 13081-970, Brazil

关键词: Angiotensin-converting Enzyme;    Genetic modulation;    Variability;    Phenotype;    Genotype;   

Others  :  1161078
DOI  :  10.1186/1471-2466-12-41

 received in 2012-02-11, accepted in 2012-07-30,  发布年份 2012

【 摘 要 】

Background

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.

Methods

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.

Results

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).

Conclusion

An association between the D allele in the ACE gene and the severity of CF was found in our study.

【 授权许可】

   
2012 Marson et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

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