Purpose: Urogenital tuberculosis (UGT) is rarely reported in developed countries. This study evaluated the genetic susceptibility of Korean patients to UGT.
Materials and Methods: A total of 35 UGT patients who were confirmed pathologically, 44 intrapulmonary tuberculosis (IPT) patients who were confirmed radiologically, and 102 controls over a 6 year period were enrolled in this study. The region of rs2243268 in interleukin-4 (IL-4) gene was amplified from whole blood samples, and the DNA sequences were read using the Sanger method.
Results: Twenty women and 15 men were diagnosed with UGT. The occurrence of the CC, AC, and AA genotypes of rs2243268 were 26 (74.3%), 8 (22.9%), and 1 (2.9%), respectively, in UGT; 28 (63.6%), 15 (34.1%), and 1 (2.3%), respectively, in IPT; and 51 (50.0%), 45 (44.1%), and 6 (5.9%), respectively, in the control groups (p=0.115). The bivariate data of CC and AC/AA were 74.3% and 25.7% in UGT, 63.6% and 36.4% in IPT, and 50.0% and 50.0% in the control groups, respectively (p=0.029). The UGT was significantly different from the control group among the three genotypes (p=0.038, Fisher’s exact test) and bivariate genotypes (p=0.017, Fisher’s exact test). In addition, people carrying the CC genotype had a higher risk of UGT (odds ratios, 2.889; 95% confidence intervals, 1.233-6.770; p=0.015).
Conclusions: A single nucleotide polymorphism in the IL-4 gene, rs2243268, is associated with the development of clinical tuberculosis. The CC type of rs2243268 increases the risk of UGT significantly compared to the CA/AA type.