Objective: To investigate the potential susceptibility to the solute carrier family 11 member 1 (SLC11A1) gene polymorphisms of Korean patients with Behçet's disease (BD).
Methods: Ninety-nine patients with BD and 98 controls were recruited. Analyses of three polymorphisms of the SLC11A1 gene [the 5'-promoter (GT)n, D543N and A318V] were performed, either by denaturing high-performance liquid chromatography for D543N and A318V or by using automatic DNA sequencing for the (GT)n. The genotypes and alleles between patients with BD and the controls were compared using the chi2 test and Yate's correction test.
Results: No significant differences were found in the distribution of genotypes and alleles of the (GT)n polymorphism between BD patients and the controls. However, subjects with the allele 3 or the genotype allele 3/allele 3 of this polymorphism had a significantly lower risk of developing BD than those without this allele or genotype [allele: p = 0.029, pc = 0.039, odds ratio (OR) = 0.60, 95% confidence interval (CI) 0.37-0.95; genotype: p = 0.036, pc = 0.048, OR = 0.54, 95% CI 0.31-0.96]. In addition, the distributions of genotypes and alleles of D543N were similar between BD patients and controls (p>0.05). In the case of A318V, all of the BD patients and controls had a wild-type genotype.
Conclusion: The allele 3 and the genotype allele 3/allele 3 of the 5'-promoter (GT)n in the SLC11A1 gene may have a protective effect for the development of BD in the Korean population. Further studies in other populations are required to confirm our results.