Some evidence suggests that a variety of genetic factors contribute to development of the tuberculosis (TB). TLR4 and TLR9 have been proposed as susceptibility genes for TB. This study was performed in 124 newly diagnosed TB cases and 149 healthy controls in a TB-endemic region of Iran. The TLR4 genes Asp299Gly, Thr399Ile, and TLR9 gene T-1486C polymorphisms were amplified by polymerase chain reaction (PCR) and then detected by PCR-restriction fragment length polymorphism (RFLP). The frequencies of the mutant alleles of TLR4 Arg299Gly, Thr399Ile, and TLR9 T-1486C polymorphisms were 0.8 versus 0.1, 5.6 versus 3, and 28.6 versus 25.2 in patients and controls, respectively, that were not significant. The synergic effect of TI,II/CC genotypes for TLR4 Thr399Ile and TLR9 T-1486C polymorphisms showed increased risk of PTB susceptibility. In conclusion, no significant relation was found between TLR4 and TLR9 polymorphisms alone and PTB. However, synergic effects of TLR4 Thr399Ile and TLR9-1486T/C polymorphisms might increase risk of PTB.
DNA repair is reduced in patients suffering from systemic lupus erythematosus (SLE), and it can induce the production of autoreactive antibodies due to the accumulation of DNA damage and nucleoprotein that produce immunogenic antigens. The accumulations of anti-Ku and DNA-PKcs antibodies, which are involved in nonhomologous DNA end joining pathway, have been detected in SLE patients. The present study was designed to evaluate the association of XRCC5, XRCC6, and XRCC7 polymorphisms with SLE susceptibility. Polymerase chain reaction (PCR) was performed to genotype 163 SLE patients and 180 healthy controls for the XRCC5 variable number of tandem repeat (VNTR) polymorphism. The genotype analysis of XRCC6-61C>G and XRCC7 6721G>T polymorphisms was performed using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. There was a significant association between XRCC5 VNTR, XRCC7 6721G>T polymorphisms and risk of SLE development. Notably, the frequency of XRCC5 VNTR 0R allele and genotypes with 2R allele was greatly enhanced in SLE patients with Malar rash (p=0.032 and p=0.024, respectively). Moreover, a higher frequency of genotypes with the XRCC5 VNTR 2R allele was observed in SLE patients with a positive antinuclear antibody (ANA) test (p=0.03). The present study shows an association between the XRCC5 VNTR, XRCC7 6721G>T polymorphisms and SLE. These polymorphisms might be genetic risk factors for SLE susceptibility and some SLE manifestations in the population southeast of Iran.
We evaluate the association between genetic polymorphisms of XRCC5 VNTR, XRCC6 -61C>G, and XRCC7 6721G>T with male infertility susceptibility. A total of 392 men including 178 infertile males (102 idiopathic azoospermia and 76 severe oligozoospermia) and 214 healthy controls were recruited. XRCC6 -61C>G and XRCC7 6721G>T genotyping was performed by PCR-RFLP whereas XRCC5 VNTR was performed by PCR. The 2R allele and 2R allele carriers of XRCC5 VNTR polymorphism significantly decreased risk of male infertility. The mutant GG genotypes and carriers of the CG and GG genotypes of XRCC6 -61C>G showed increased risk for the male infertility. Furthermore, the G allele of the XRCC6 -61C>G was correlated with increased susceptibility to male infertility. Likewise, the T allele of the XRCC7 6721G>T polymorphism was associated with increased susceptibility to male infertility in azoospermia. In silico analysis predicted that the presence of tandem repeats in XRCC5 gene prompter can be sequence to bind to more nuclear factors. Also, rs2267437 (C>G) variant was located in a well-conserved region in XRCC6 promoter and this variation might lead to differential allelic expression. The XRCC7 6721G>T gene polymorphism occurred in an acceptor-splicing site, but this polymorphism has no severe modification on XRCC7 mRNA splicing. Our results indicate the association of XRCC5 VNTR, XRCC6 -61C>G, and XRCC7 6721G>T gene polymorphisms with male infertility in Iranian men.
Osteoarthritis is mediated by various types of cytokines, growth factors, and inflammatory factors that the role of the interleukin‐17 family in this disease is becoming increasingly apparent. The aim of this study is to determine the association between the common polymorphisms of IL17A (including rs2275913) and IL17F (including rs2397084 and rs763780) genes with the knee osteoarthritis risk which was followed by a bioinformatics approach. In a case‐control study, 254 participants consisting of 127 healthy individuals and 127 subjects with knee osteoarthritis referring to Shahid Beheshti Hospital dependents on Kashan University of Medical Sciences (Kashan, Iran) were enrolled. After samples collection, the polymorphisms genotyping was determined by the polymerase chain reaction‐restriction fragment length polymorphism (PCR‐RFLP) method. Finally, some bioinformatics tools were used to analyze the molecular effects of the three studied polymorphisms. Data analysis showed a significant association between rs2275913‐GA genotype and the decreased risk of knee osteoarthritis (OR = 0.57, 95% CI = 0.33‐0.97, P = .040). However, rs763780‐AG genotype (OR = 2.29, 95%CI = 1.11‐4.69, P = .024) and rs763780‐G allele (OR = 2.01, 95% CI = 1.09‐3.72, P = .026) were associated with an increased risk of knee osteoarthritis. However, no significant associations were found between the rs2397084 polymorphism and knee osteoarthritis risk. Our structural analysis revealed that the rs2275913 polymorphism could create a new binding site for TFII‐I at the promoter region of IL17A. Also, rs2397084 and rs763780 could significantly affect the function and structure of IL17A. Based on our findings, rs2275913 and rs763780 could be considered as protective and risk factors for knee osteoarthritis, respectively. Therefore, these polymorphisms can be considered as biomarkers for the screening of knee osteoarthritis susceptible persons.
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