Association of systemic beta-defensin-1 and -20G/A DEFB1 gene polymorphism with Behçet's disease
| Autor: | Mohamed Bassem Hammami, Moncef Feki, Houman Mh, Thouraya Ben Salem, Riadh Jemaa, F. Said, Amani Kallel |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Adult
Male Tunisia beta-Defensins Single-nucleotide polymorphism Disease Behcet's disease 030204 cardiovascular system & hematology Polymorphism Single Nucleotide Pathogenesis 03 medical and health sciences 0302 clinical medicine Genotype Internal Medicine Humans Medicine Genetic Predisposition to Disease 030212 general & internal medicine business.industry Behcet Syndrome Middle Aged Stepwise regression medicine.disease Logistic Models Case-Control Studies Immunology DEFB1 gene Etiology Female business |
| Zdroj: | European Journal of Internal Medicine. 65:58-62 |
| ISSN: | 0953-6205 |
| Popis: | Behçet's disease (BD) is a multisystem inflammatory disease of unknown etiology. Beta-defensins are antimicrobial peptides involved in epithelial host defense. To explore whether beta-defensins might be involved in BD pathogenesis, we examined plasma human beta-defensin-1 (hBD-1) and DEFB1 -20G/A polymorphism in BD patients.This case-control study included 106 BD patients fulfilling the criteria of the International Study Group for BD and 156 controls. The -20G/A genotypes were determined by PCR-RFLP analysis in all participants, and plasma hBD-1 was assessed by ELISA in 77 BD patients and 44 controls, only. Stepwise multiple regression models were applied to determine independent predictors for plasma hBD-1 in BD patients.Distribution of -20G/A genotypes was different between BD patients and controls. Compared to GG genotype, "GA" genotype [OR (95% CI), 3.12 (1.56-6.16); p = .001] and "AA" genotype [2.57 (1.10-5.96); p = .027)] were associated with increased risk for BD. Plasma hBD-1 concentrations were significantly higher in BD patients than controls (9.81 ± 3.52 ng/mL vs. 5.30 ± 3.02 ng/mL; p .001), and in BD patients with neurological involvement than those without (11.1 ± 4.12 ng/mL vs. 9.19 ± 3.10 ng/mL; p = .040). No variation was noted according to other clinical features, treatment received or -20G/A genotypes. In multivariate analysis, neurological involvement was the only predictor for plasma hBD-1 (β, 0.274; p = .029).Findings suggest that hBD-1 and its encoding gene DEFB1 could modulate the risk for BD, especially for BD neurological involvement. Further work is needed for a better understanding of role of hBD-1 and its genetic variants in the pathogenesis of BD. |
| Databáze: | OpenAIRE |
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