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COX-2 GENE POLYMORPHISMS: GENETIC DETERMINANTS OF CYSTIC FIBROSIS COMORBIDITIES

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Author(s): MARSON F.A.L. | MARCELINO A.R.B. | RIBEIRO J.D. | RIBEIRO A.F. | BERTUZZO C.S.

Journal: International Journal of Genetics
ISSN 0975-2862

Volume: 5;
Issue: 1;
Start page: 132;
Date: 2013;
Original page

Keywords: Cystic fibrosis | COX-2 gene | CFTR gene | diabetes mellitus | nasal polyposis

ABSTRACT
Cystic fibrosis (CF) has clinical variability associated with CFTR genetic mutations, environmental factors and modifier genes. Genes associated with the inflammatory process are important for understanding CF variability as well as identifying new therapies and prognostic factors. Because of the importance of COX-2 in inflammation, COX-2 polymorphisms were studied in a CF population and compared with 27 clinical variables with consideration of the CFTR mutations. There were 106CF patients included in the study, and the rs20417 and rs5275 COX-2 gene polymorphisms were analyzed using the RFLP technique. The polymorphism -8473C>T was associated with nasal polyposis in the CC+CT genotype (OR=5.552, IC=1.318-38.37) without taking the CFTR mutations into account. The haplotype analysis showed an association with nasal polyposis (NP) and diabetes mellitus (DM). NP was associated with the GG/TT haplotype (OR=0.1056, IC=0.004-0.642) in patients without taking the CFTR mutations into account. DM was associated with the GC/TC haplotype, (OR=6.164, IC=1.719-23.83) in patients with two identified CFTR mutations. The association of COX-2 polymorphisms with CF was not clear. In the literature, only one study considering these polymorphisms and CF was found, and that study did not include CF comorbidities in the clinical variables. Therefore, our study provides the first evidence showing an association between the COX-2 gene and the CF comorbidities of NP and DM. In recent years, the prognosis and life expectancy of CF patients has improved, and the comorbidities have increased as a result. A better understanding of the complex aspects involved in CF comorbidities could provide a better treatment, primarily in older CF patients.
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