Interferon‐γ Receptor‐1 Gene Promoter Polymorphisms (G‐611A; T‐56C) and Susceptibility to Tuberculosis

Abstract

We analysed frequencies of two single-nucleotide polymorphisms (SNP) in the interferon-g (IFN-g) receptor-1 (IFNGR1) gene promoter (G-611A, T-56C) in tuberculosis patients (n ¼ 244) and compared them with controls (n ¼ 521). These frequencies were not significantly different, whether analysed independently or as haplotypes. Because these SNP affect transcription, the results suggest that the expression of the IFNGR1 gene does not confer susceptibility to disease in patients from Croatia. Further analysis revealed a significant association between the protective (CA) n polymorphism (22 repeats, 192 FA 1 ), located in the fifth intron of the IFNGR1 gene (þ16682), and GT promoter haplotype (À611; À56) that showed the strongest expression capacity. In addition to this cis relationship, the (CA) 22 allele was correlated in trans with an IFN-g SNP (IFNG G þ 2109A), which might affect the transcription of the IFNG gene. These results suggest that a particular combination of IFNG and IFNGR1 SNP might offer a better protection against tuberculosis in this population.

Interferon Gamma Receptor 1 Gene Polymorphism in Patients with Tuberculosis in China

“…For the CA repeats, 13 alleles in the CA repeats (ranged from 13 to 27 CA repeats) were identified in the two groups. Among these alleles, the 13, 19 and 25 CA repeats were found to be the most common type in both patient and control 14 11 (4.8) 11 (6.2) (CA) 17 1 (0.4) 0 (0) (CA) 18 3 (1.3) 1 (0.6) (CA) 19 18 (7.8) 16 (9) (CA) 20 12 (5.2) 9 (5.1) (CA) 21 5 (2.2) 4 (2.2) (CA) 22 2 (0.9) 1 (0.6) (CA) 23 6 (2.6) 12 (6.7) (CA) 24 10 (4.3) 7 (3.9) (CA) 25 69 ( groups. The (CA) 15 repeats and (CA) 16 repeats cannot be identified in our population.…”

Heterozygous Carriage of a Dysfunctional Toll-like Receptor 9 Allele Affects CpG Oligonucleotide Responses in B Cells

“…Allele frequency analysis was conducted on blood samples of 810 healthy donors (Department of Transfusion Medicine, Zagreb and Rijeka, Croatia) and 210 tuberculosis patients (Department of Internal Medicine, Section of Pulmonology, Clinical Hospital Center, University of Rijeka, Rijeka, Croatia) as described (19,20). All study subjects provided oral and written informed consent.…”

Biomedical Importance of Host Genetic Factors in Infectious Diseases

“…The frequencies of interferon-(IFN-) receptor-1 (IFN R1) promoter polymorphisms (G-611A, T-56C) in tuberculosis patients and controls were not significantly different. Because of these studied SNP affect transcription, the expression of the IFN R1 gene does not confer susceptibility to disease in patients from Croatia (Bulat-Kardum et al, 2006). A significant association between the protective (CA) n polymorphism (22 repeats, 192 FA1), located in intron five of the IFN R1 gene and GT promoter haplotype (-611; -56) that showed the strongest expression capacity have been reported.…”