Journal List > Urogenit Tract Infect > v.13(2) > 1100740

Shim, Lee, Kim, Jung, Cho, and Lee: Association between an Interleukin 4 Gene Polymorphism, rs2243268, and Urogenital Tuberculosis

Abstract

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.

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Fig. 1.
Single nucleotide polymorphism in rs2243268. Sequencing chromatogram revealed the CC genotype (left), C/A genotype (middle), and AA genotype (right).
uti-13-35f1.tif
Fig. 2.
Significant differences in bivariate genotypes were observed between the urogenital tuberculosis (UGT) and the control group (p=0.017, Fisher's exact test). People carrying the CC genotype of rs2243268 had an increased risk of UGT (odds ratios, 2.889; 95% confidence intervals, 1.233-6.770; p=0.015) compared to those with the CA/AA genotypes. SNP: single-nucleotide polymorphism, IPT: intrapulmonary tuberculosis.
uti-13-35f2.tif
Table 1.
Clinical characteristics and genotype distribution of the rs2243268 polymorphism among urogenital tuberculosis (UGT), intrapulmonary tuberculosis (IPT), and control groups
Parameter Patient group p-value
UGT IPT Control
No. of subjects 35 44 102  
Sex (male/female) 15/20 20/24 46/56  
Age (y) 51.1±14.3 51.7±14.6 49.8±14.7  
Urogenital tuberculosis location        
  Urinary tract 33 None None  
  Genital tract 2 None None  
Genetic polymorphism       0.115
  CC 26 (74.3) 28 (63.6) 51 (50.0)  
  CA 8 (22.9) 15 (34.1) 45 (44.1)  
  AA 1 (2.9) 1 (2.3) 6 (5.9)  
  CC 26 (74.3) 28 (63.6) 51 (50.0)  
  CA & AA 9 (25.7) 16 (36.4) 51 (50.0) 0.029

Values are presented as number only, mean±standard deviation, or number (%).

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