Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2012 Aug 8:12:41.
doi: 10.1186/1471-2466-12-41.

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

Fernando A L Marson  1 , Carmen S Bertuzzo, Taís D R Hortencio, José D Ribeiro, Luciana C Bonadia, Antônio F Ribeiro
Affiliations

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

Fernando A L Marson et al. BMC Pulm Med. .

Abstract

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.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Association of clinical data, with numerical distribution, withACEgene D/I polymorphism and subgroups ofCFTRmutations. a Bloxplot denoting the association of the ACE gene D/I polymorphism in patients without taking CFTR gene into account. There were significant differences between groups of patients with the genotypes D/D and I/I. # p: 0.092 * p: 0.768, ¥ p: 0.045. b. Bloxplot denoting the association of the ACE gene D/I polymorphism in the subgroup of patients for whom one class I, II and III mutation have been identified. There were significant differences between groups of patients with genotypes D/D and I/I. # p: 0.478, * p: 0.183; ¥ p: 0.043. c. Bloxplot denoting the association of the ACE gene D/I polymorphism in the subgroup of patients for whom two class I, II and/or III mutation have been identified. There were significant differences between groups of patients with genotype D/D and I/I. # p: 0.789 * p: 0.505; ¥ p: 0.05. Analysis was performed by Mann–Whitney test considering a p-value of 0.05 as statistically significant
See this image and copyright information in PMC

References

    1. Zielenski J. Genotype and phenotype in cystic fibrosis. Respiration. 2000;67:117–133. doi: 10.1159/000029497. - DOI - PubMed
    1. Davies JC, Griesenbach U, Alton E. Modifier genes in cystic fibrosis. Pediatr Pulmonol. 2005;39:383–391. doi: 10.1002/ppul.20198. - DOI - PubMed
    1. Slieker MG, Sanders EA, Rijkers GT, Ruven HJ, van der Ent CK. Disease modifying genes in cystic fibrosis. J Cyst Fibros. 2005;4:7–13. - PubMed
    1. Belcher CN, Vij N. Protein Processing and Inflammatory Signaling in Cystic Fibrosis: Challenges and Therapeutic Strategies. Current Molecular Medicine. 2010;10:82–94. doi: 10.2174/156652410791065408. - DOI - PMC - PubMed
    1. Cutting GR. Modifier genes in Mendelian disorders: the example of cystic fibrosis. Ann N Y Acad Sci. 2010;1214:57–69. doi: 10.1111/j.1749-6632.2010.05879.x. - DOI - PMC - PubMed

MeSH terms

Substances