alexa ADIPOR2 Polymorphisms in Cystic Fibrosis are Potential Modifiers of Clinical Severity | OMICS International | Abstract
ISSN: 2157-7412

Journal of Genetic Syndromes & Gene Therapy
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Research Article

ADIPOR2 Polymorphisms in Cystic Fibrosis are Potential Modifiers of Clinical Severity

Fernando Augusto de Lima Marson1,2*, Luiza Annelene Zimmermann1, Jose Dirceu Ribeiro2 and Carmen Silvia Bertuzzo1

1Department of Medical Genetics, University of Campinas - Unicamp - School of Medical Sciences - FCM.Tessália Vieira de Camargo, 126. Cidade Universitária “Zeferino Vaz” - Campinas - SP- Brazil

2Department of Pediatrics, Campinas State University - Unicamp, Center for Pediatrics Research - CIPED, School of Medical Sciences - FCM. Tessália Vieira de Camargo, 126. Cidade Universitária “Zeferino Vaz” - Campinas - SP- Brazil

These authors contributed equally to this work.

*Corresponding Author:
Master Fernando Augusto de Lima Marson
Department of Pediatrics and Department of Medical Genetics
Campinas State University
– Unicamp, Brazil
Tel: ++ 55 19 35218902
Fax: ++ 55 19 35218907
E-mail: [email protected]

Received date: March 25, 2014; Accepted date:September 23, 2014; Published date: September 29, 2014

Citation: de Lima Marson FA, Zimmermann LA, Ribeiro JD, Bertuzzo CS (2014) ADIPOR2 Polymorphisms in Cystic Fibrosis are Potential Modifiers of Clinical Severity. J Genet Syndr Gene Ther 5:246. doi: 10.4172/2157-7412.1000246

Copyright: © 2014 de Lima Marson FA, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Abstract

Objective: Cystic Fibrosis (CF) severity is determined by mutations in the Cystic Fibrosis Transmembrane Regulator (CFTR) gene, the environment and modifier genes. The adiponectin receptor 2 (ADIPOR2) gene is one of the potential modifier genes of CF and is responsible for expressing an anti-inflammatory protein. In this context, the 315 base deletion and the 134 base insertion polymorphisms in the ADIPOR2 gene are associated with CF severity. Methodology: A total of 169 CF patients were enrolled, and 27 CF clinical markers were analyzed. Results: The 315 base deletion and haplotypes analyses showed an association with the patient´s age and ethnicity. For the age, the deletion in both alleles was associated with a lower age in the patients without any identified CFTR mutations (OR= 7.257; 95%CI= 1.321-44.83) or disregarding CFTR mutations (OR= 2.394; 95%CI= 1.046- 5.721). For the ethnicity, the wild-type allele (315 base no deletion) showed lower risk of occurrence in Caucasians patients with two CFTR mutations identified (OR= 0.052; 95%CI= 0.002-0.382) or no CFTR mutations (OR= 0.154, 95%CI= 0.032-0.592). The same values were observed for the clustered analysis of the 315 base deletions. In the analysis of the haplotype, in the Caucasian group, the patients with two CFTR mutations were identified and demonstrated an OR of 0.076 (95%CI= 0.009-0.432) for wild-type alleles. The 134 base insertions were associated with the SpO2 [patients without considering the CFTR genotype (p-value= 0.034) and without any identified CFTR mutations (p-value= 0.034)] and the Kanga score (no CFTR mutations identified) (p-value= 0.008). The haplotype was associated with the forced vital capacity (disregarding CFTR genotype) (p-value= 0.028). Conclusion: The 315 base deletions and the insertion of 134 bases in the ADIPOR2 gene are potential modifiers of the severity of CF and should be considered during CFTR mutation screening.

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