Lack of an Association between Interleukin-12 Receptor β1 Polymorphisms and Tuberculosis in Koreans

Abstract

Background: The fact that only 10% of people infected with Mycobacterium tuberculosis develop clinical tuberculosis (TB) suggests the presence of genetic factors in the pathogenesis of TB. To date, a number of single nucleotide polymorphisms (SNPs) in several candidate genes have been proposed as genetic risk factors of TB; however, reports are conflicting. Objectives: We investigated whether SNPs in the interleukin (IL)-12 receptor β1 gene are associated with TB in Koreans. Methods: One hundred and fifteen patients with bacteriologically or pathologically confirmed TB and 151 healthy anonymous blood donors were enrolled. The genotypes of 5 SNPs on IL-12 receptor β1 gene, +705A/G (Q214R), +1158T/C (M365T), +1196G/C (G378R), +1637G/A (A525T) and +1664 C/T (P534S), were determined by PCR-RFLP. Results: No difference was observed between TB patients and controls in terms of the genotype frequencies of the 5 SNPs of the IL-12 receptor β1 gene or of their haplotypes. Conclusions: In view of the finding that these SNPs have been reported to be associated with TB in the Japanese and Moroccan populations, our results may reflect racial differences in genetic susceptibility to TB.

The association between microsatellite polymorphisms in intron II of the human Toll-like receptor 2 gene and tuberculosis among Koreans

“…36,37 The lower component, with p(GT) 16 , was designated the 'S allele'; the middle component, between (GT) 17 and (GT) 22 as the 'M allele'; and the upper component, with X(GT) 23 as the 'L allele'. While the frequency of the S allele was 22.3% in healthy controls, it was significantly more common in the original TB cohort (28.7%, P ¼ 0.045) and in the validation TB cohort (33.5%, P ¼ 0.02).…”

“…However, these associations have not been robust or generalizable in most cases. 15,16 The human Toll-like receptors (TLRs) are pattern recognition molecules that play important roles in early innate immune recognition and inflammatory responses. [17][18][19][20][21] In addition to their critical roles in innate immunity, TLRs are essential in the orientation of the adaptive immune response through the induction of the Th 1 immune response.…”

Association Between IL12A rs568408, IL12B rs3212227 and IL-12 Receptor rs383483 Polymorphisms and Risk of Pulmonary Tuberculosis

“…They reported no significant association between alleles or genotypes and susceptibility to Prabhu Anand et al (24) and Ma et al (25) found that allelic as well as genotypic frequencies of IL-12B 1188 A/C (rs3212227) did not differ significantly between the patients and normal subjects. Lee et al (12) in a study on Korean population found no significant association between PTB and the IL-12R polymorphism while, Remus et al (13) showed a positive correlation between IL-12R polymorphism and susceptibility to TB and pointed out that the polymorphism in IL12-R may affect the risk of PTB development. Interleukine-12 influence on macrophage to controlling MTB (26) and polymorphism in IL-12 and its receptors may affect its production.…”

“…Reduced expression of IL12Rβ can cause immunodeficiency of MTB patients (9). Several studies have shown the association among IL-12A, IL12-B and its receptor polymorphism with the risk of TB but the results were controversial (10)(11)(12)(13). Therefore, the present case-control study was designed to investigate the possible association between IL12A rs568408, IL12B rs3212227 and IL-12R rs383483 polymorphisms and PTB in a sample of southeast Iranian population.…”

Tuberculosis infection: Insight from immunogenomics

“…In addition, candidate gene studies suggest that several common IL-12 polymorphisms may be associated with MTb susceptibility [40,41]. However, further studies on these polymorphisms in a Korean population and a Moroccan population failed to show an association with susceptibility to [42,43]. Together, these results suggest that genetic variation in genes regulating dendritic cell function may be associated with susceptibility to MTb.…”