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ADRA2A IS A CYSTIC FIBROSIS MODIFIER GENE

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Author(s): MARSON F.A.L. | REZENDE L.M. | FURGERI D.T. | RIBEIRO A.F. | RIBEIRO J.D. | BERTUZZO C.S.

Journal: International Journal of Genetics
ISSN 0975-2862

Volume: 5;
Issue: 1;
Start page: 125;
Date: 2013;
Original page

Keywords: Cystic fibrosis | polymorphisms | ADRA2A | CFTR | genotype | phenotype | variability | lung disease | modifier gene

ABSTRACT
Background: Cystic fibrosis (CF) is an autosomal disease with characteristics of a complex disease. Understanding ADRA2A polymorphisms are important to elucidate clinical variability that is encountered in inflammatory diseases including CF, for which diabetes is an important comorbidity beyond the primary inflammatory pulmonary disease.Method: We included 176 CF patients. The rs553668 and rs10885122 ADRA2A gene polymorphisms were screened by ARMS-PCR. A genotypic comparison was performed with 27 CF clinical variables and CFTR mutations.Results: Clinical associations were found with the categorical variables: race [rs553668 polymorphism without taking the CFTR gene into account (p= 0.002); haplotype group, without taking the CFTR gene into account (p= 0.014)], meconium ileus [rs553668 polymorphism without taking the CFTR gene into account (p= 0.030) and patients with two CFTR mutations (p= 0.0012)] and BMI [rs553668 polymorphism in patients with two CFTR mutations (p= 0.014)]. The association with numerical data was positive for age of diagnosis [rs553668 polymorphism without taking CFTR mutations into account (p= 0.022)]; the Bhalla score [rs553668 polymorphism in patients with two CFTR mutations (p= 0.014)]; and the Shwachman-Kulczycki score [rs553668 polymorphism (p= 0.008) and haplotype (p= 0.050) in patients with two CFTR mutations].Conclusion: The rs553668 and rs10885122 ADRA2A gene polymorphisms are modifiers of CF severity.

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