Amani Kallel1, Thouraya Ben Salem2, Mohamed Bassem Hammami1, Fatma Said2, Riadh Jemaa1, Mohamed Habib Houman2, Moncef Feki3. 1. University of Tunis El Manar, Faculty of Medicine of Tunis, LR99ES11 Tunis, Tunisia; Rabta Hospital, Laboratory of Biochemistry, Jebbari 1007, Tunis, Tunisia. 2. University of Tunis El Manar, Faculty of Medicine of Tunis, LR99ES11 Tunis, Tunisia; Rabta Hospital, Service of Internal Medicine, Jebbari 1007, Tunis, Tunisia. 3. University of Tunis El Manar, Faculty of Medicine of Tunis, LR99ES11 Tunis, Tunisia; Rabta Hospital, Laboratory of Biochemistry, Jebbari 1007, Tunis, Tunisia.. Electronic address: monssef.feki@gmail.com.
Abstract
BACKGROUND: 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. METHODS: 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. RESULTS: 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). CONCLUSIONS: 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.
BACKGROUND: 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 humanbeta-defensin-1 (hBD-1) and DEFB1-20G/A polymorphism in BD patients. METHODS: 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. RESULTS: 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). CONCLUSIONS: 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.