Urogenit Tract Infect.  2018 Aug;13(2):35-39. 10.14777/uti.2018.13.2.35.

Association between an Interleukin 4 Gene Polymorphism, rs2243268, and Urogenital Tuberculosis

• Shim B
• Lee SD
• Kim TH
• Jung SI
• Cho WY
• Lee G

• KMID: 2419780
• DOI: http://doi.org/10.14777/uti.2018.13.2.35

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.

Keyword

Urogenital tuberculosis; rs2243268

MeSH Terms

Base Sequence
Developed Countries
Female
Genetic Predisposition to Disease
Genotype
Humans
Interleukin-4*
Interleukins*
Male
Methods
Polymorphism, Single Nucleotide
Tuberculosis
Tuberculosis, Urogenital*
Interleukin-4
Interleukins

Figure

• 

  Fig. 1. Single nucleotide polymorphism in rs2243268. Sequencing chromatogram revealed the CC genotype (left), C/A genotype (middle), and AA genotype (right).

• 

  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.

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