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Background: Several studies have reported a possible association of miR-146a rs2910164 polymorphism with Breast Cancer (BC) development. However, the correlation between this polymorphism and susceptibility to BC is under debate. The current meta-analysis was designed and performed to more conclusively evaluate the miR-146a rs2910164 polymorphism and its potential link to BC. Methods: Our team has selected eligible studies (published up to October 2, 2020) from several electronic databases, including Web of Science, PubMed, Scopus and Google Scholar. A total number of 9,545 BC cases and 10,030 controls extracted from 26 eligible articles were included in this study. We utilized pooled Odds Ratios (ORs) as well as 95% confidence intervals (95% CIs) under five genetic models for quantitative estimation of any possible association between miR-146a rs2910164 polymorphism and BC. Results: Based on this meta-analysis, our findings suggest that there is no significant association between miR-146a rs2910164 polymorphism and BC risk. However, stratified analysis revealed that the rs2910164 polymorphism significantly increased the risk of BC in hospital-based studies using the homozygous genetic model (OR=1.37, 95%CI=1.01-1.86, p=0.043, CC vs. GG). Neither Asian nor Caucasian populations showed any significant association between rs2910164 polymorphism and BC susceptibility. Conclusion: In summary, our findings suggest that BC development is not associated with miR-146a rs2910164 polymorphism. However, larger ingenious future investigations might be needed for a more precise estimation of any association between miR-146a rs2910164 polymorphism and BC.

BACKGROUND Interleukin 27 (IL-27) has potent antitumor activity. Several epidemiological studies have designated that genetic variants of the IL-27 gene may contribute to various cancer susceptibility, but the data were inconclusive. Objective: The current meta-analysis aimed to address the association between IL-27 rs153109, rs17855750, and rs181206 polymorphisms and the risk of cancer. DATA SOURCES Our team has selected eligible studies up to May 1, 2020, from several electronic databases, including Web of Science, PubMed, Scopus, and Google Scholar databases. RESULTS Our meta-analysis revealed that the carriers rs153109 A>G polymorphism in the IL-27 gene have higher risks of diseases in the heterozygous (OR=1.26, 95%CI=1.06-1.49, P=0.007, AG vs AA), homozygous (OR=1.18, 95%CI=1.01-1.37, p=0.33, GG vs AA), dominant (OR=1.25, 95%CI=1.07-1.47, P=0.006, AG+GG vs AA), and allele (OR=1.15, 95%CI=1.04-1.27, P=0.008, G vs A) genetic models. Stratified analysis by cancer type indicated that this variant was significantly associated with gastrointestinal cancer, colorectal cancer and breast cancer. The findings did not support an association between rs17855750 T>G, rs181206 T>C polymorphisms of IL-27 and cancer risk. CONCLUSION the current study findings suggest that IL-27 rs153109 polymorphism significantly increased the risk of cancer susceptibility. Well-designed replication in a larger independent genetic association study with larger sample sizes in diverse ethnicities is required to verify the findings. .

Neuroblastoma (NB), a neuroendocrine tumour, is one of the most prevalent cancers in children. The link between LMO1 polymorphisms and NB has been investigated by several groups, rendering inconclusive results. Here, with this comprehensive systematic review and up‐to‐date meta‐analysis, we aim to distinctively elucidate the possible correlation between LMO1 polymorphisms and NB susceptibility. Eligible studies were systematically researched and identified using PubMed, Web of Science and Scopus databases up to 10 February 2019. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to assess the strength of the associations. Our findings revealed that rs110419 and rs2168101 polymorphisms were significantly associated with a decreased risk of NB in all genetic models. In addition, the rs4758051 variant appeared protective against NB in homozygous, dominant and allele genetic models, whereas the rs10840002 variant markedly decreased the risk of NB in the allele model. In contrast, the rs204938 polymorphism showed a positive association with NB susceptibility in allele genetic models. In summary, our meta‐analysis is the first to provide clear evidence of an association between specific polymorphisms of LMO1 and susceptibility to NB. Of note, additional larger well‐designed studies would be helpful to further evaluate and confirm this association.

Flap endonuclease 1 (FEN1) has emerged as an important enzyme in the maintenance of genomic instability and preventing carcinogenesis. The relationship between FEN1 -69G>A (rs174538)+4150G>T (rs4246215) polymorphisms and cancer susceptibility has been reported; however, results were inconclusive. In the present study, a meta-analysis of data from eligible reports was carried out to summarize the possible relationship between FEN1 polymorphisms and cancer risk. A total of 11 articles, including 20 studies with 7366 cases and 9028 controls and 18 studies with 6649 cases and 8325 controls for FEN1 rs174538 and FEN1 rs4246215 polymorphisms, respectively, were recruited for meta-analysis. Overall, meta-analyses showed that FEN1 rs174538 and rs4246215 polymorphisms are significantly associated with the decreased risk of cancer. The stratified analysis proposed that both variants were associated with protection against gastrointestinal cancer, breast cancer, hepatocellular cancer, esophageal cancer, gastric cancer, colorectal cancer, and lung cancer. In conclusion, this meta-analysis revealed an association between FEN1 polymorphisms and cancer risk. Additional studies in a larger study population that include subjects from a variety of ethnicities are warranted to further verify our findings.

Background: Oral Squamous Cell Carcinoma (OSCC) is among the ten most common cancers worldwide. Hypermethylation of CpG sites in the promoter region and subse-quent down-regulation of a tumor suppressor gene, TGM-3 has been proposed to be linked to different types of human cancers including OSCC. In this study, methylation sta-tus of CpG sites in the promoter region of TGM-3 has been evaluated in a cohort of pa-tients with OSCC compared to normal controls. Methods: Forty fresh tissue samples were obtained from newly diagnosed OSCC patients and normal individuals referred to dentistry clinic for tooth extraction. DNA was extract-ed, bisulfite conversion was performed and it was subjected to PCR using bisulfite-sequencing PCR (BSP) primers. Prepared samples were sequenced on a DNA analyzer with both forward and reverse primers of the region of interest. The peak height values of cytosine and thymine were calculated and methylation levels for each CpG site within the DNA sequence was quantified. Results: Quantitative DNA methylation analyses in CpG islands revealed that it was sig-nificantly higher in OSCC patients compared to controls. DNA methylation at CpG1/CpG3/CpG5 (p=0.004-0.01) and CpG1/CpG3 (p=0.001-0.019) sites was associated with tumor stage and grade, respectively. Male OSCC patients had higher methylation rate at CpG3 (p=0.032), while smoker patients showed higher methylation rate at CpG6 (p=0.045). Conclusion: These results manifested the contribution of DNA methylation of TGM-3 in OSCC and its potential association with clinico-pathologic parameters in OSCC.

Fibroblast growth factor receptor 4 (FGFR4) is a cell surface receptor tyrosine kinases (RTKs) for FGFs. Several studies have focused on the association between FGFR4 polymorphisms and cancer development. This meta-analysis aimed to estimate the association between FGFR4 rs351855 (Gly388Arg), rs1966265 (Val10Ile), rs7708357, rs2011077, and rs376618 polymorphisms and cancer risk. Eligible studies were identified from electronic databases. All statistical analyses were achieved with the STATA 14.0 software. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) were used to quantitatively estimate the association. Overall, no significant association was found among rs351855, rs2011077, and rs376618 polymorphisms with the risk of overall cancer. The rs1966265 polymorphism significantly decreased the risk of cancer in recessive (OR = 0.87, 95% CI = 0.78–0.97, P=0.009, TT vs CT+CC) genetic model. Whereas the rs7708357 polymorphism was positively associated with cancer risk in dominant (OR = 1.17, 95% CI = 1.02–1.36, P=0.028) genetic model. Stratified analysis revealed that rs351855 variant significantly increased the risk of prostate cancer in heterozygous (OR = 1.16, 95% CI = 1.02–1.32, P=0.025 AG vs GG), dominant (OR = 1.20, 95% CI = 1.06–1.35, P=0.004, AG+AA vs GG), and allele (OR = 1.22, 95% CI = 1.06–1.41, P=0.005, A vs G) genetic models. In summary, the findings of this meta-analysis indicate that rs1966265, rs7708357, and rs351855 polymorphisms are correlated to cancer development. Further well-designed studies are necessary to draw more precise conclusions.

Several recent investigations show that HOX transcript antisense intergenic RNA (HOTAIR) play an important role in the pathogenesis of different cancers. HOTAIR polymorphisms has been widely studied in the context of association between with the risk of cancer pathogenesis. However, there is no certain conclusion about the role of HOTAIR polymorphisms in different cancer initiation and progression. Our team has selected eligible studies up to 1 May 2019, from several electronic databases, including Web of Science, PubMed, Scopus, and Google Scholar databases. We have included total number of 102 case-control investigations extracted from 41 eligible articles for the current meta-analysis. We calculated pooled odds ratio (ORs) with their corresponding 95% confidence intervals (CIs) using either fixed-effect or random-effect models for quantitative evaluation of the strength for the association between HOTAIR gene polymorphisms and the risk of cancer. Our current meta-analysis investigation showed that HOTAIR rs4759314 polymorphism particularly increased the overall risk of cancer in different models including homozygous, recessive and allele genetic. HOTAIR rs920778 significantly raised the cancer risk only in recessive genetic model. HOTAIR rs12826786 polymorphism was associated with cancer development in heterozygous, homozygous, dominant, recessive and allele genetic models. Also, an increase in cancer risk was observed with rs874945 polymorphism of HOTAIR gene in heterozygous, dominant and allele genetic models. The rs12427129 polymorphism showed correlation with cancer susceptibility only in recessive model. Subgroup analysis based on cancer type suggested that rs4759314 polymorphism significantly increased the risk of gastric and cervical cancers, and the rs920778 polymorphism increased the risk of gastrointestinal, cervical and gastric cancers. In summary, this study found that HOTAIR polymorphisms are significantly associated with cancer development.

Growing evidence propose an association between miRNA polymorphisms and cancer susceptibility. This study aimed to examine the impact of miR-605 rs2043556 polymorphism on cancer risk through a meta-analysis based on 3198 cancer cases and 4943 controls. Eligible studies were retrieved by searching Web of Science, PubMed, Scopus, and Google Scholar databases up to August 27, 2018. The pooled Odds Ratios (ORs) with 95% Confidence Intervals (CIs) were calculated using a random-effect model to estimate the strength of association between rs2043556 variant of miR-605 and cancer risk. Overall, no significant association was found between miR-605 rs2043556 polymorphism and cancer risk in heterozygous codominant (OR=0.93, 95% CI=0.76-1.13, p=0.44, AG vs. AA), homozygous codominant (OR=1.01, 95%CI=0.78-1.30, p=0.94, GG vs. AA), dominant (OR=0.95, 95% CI=0.79-1.13, p=0.55, AG+GG vs. AA), recessive (OR=1.07, 95%CI=0.84-1.38, p=0.57, GG vs. AG+AA), overdominant (OR=0.93, 95% CI=0.76-1.12, p=0.43, AG vs. GG+AA), and allele (OR=0.98, 95% CI=0.87-1.10, p=0.73, G vs. A) genetic models tested. Stratified analysis by cancer type revealed that the rs2043556 variant was not associated with digestive tract cancer, breast cancer, gastric cancer as well as lung cancer. Taken together, the findings of this meta-analysis did not support an association between miR-605 rs2043556 polymorphism and cancer susceptibility.

Background and Aims Previous studies investigated the impact of miR-423 rs6505162 C>A polymorphism on individual susceptibility to risk, but the conclusions are still controversial and inconclusive. We performed a meta-analysis to get a more precise and comprehensive assessment of the association between miR-423 rs6505162 variant and cancer risk. Methods Relevant studies were identified by searching the PubMed, Web of Science, Scopus and Google scholar databases up to September 03, 2018. Twenty seven case-control studies comprising 10,500 cases and 13,781 controls were included. The strength of correlation between rs6505162 polymorphism and cancer risk was evaluated by odds ratios (ORs) and 95% confidence intervals (CIs) under six genetic models. Results The findings showed that rs6505162 variant significantly decreased the risk of cancer in heterozygous codominant (OR = 0.88, 95% CI = 0.79–0.97, p = 0.009, AC vs. CC), dominanat (OR = 0.86, 95% CI = 0.77–0.95, p = 0.005, AC + AA vs. CC), and allele (OR = 0.89, 95% CI = 0.82–0.96, p = 0.003, A vs. C) genetic models. Stratified analyses by cancer types revealed that rs6505162 variant significantly decreased the risk of gastrointestinal cancer, colorectal cancer and lung cancer. The variant was not associated with the risk of esophageal cancer, breast cancer and gastric cancer. In addition this variant was associated with protective effect against cancer in Asian population. Conclusion In conclusion, the findings of this meta-analysis suggests that miR-423 rs6505162 polymorphism may play a role in protection against cancer. More well-designed studies are required to elucidate the exact role of miR-432 polymorphism on cancer development.

The aim of this study was to investigate the relationship between p16 methylation and its expression in oral squamous cell carcinoma (OSCC). Also the contribution of clinicopathological factors, HPV infection and smoking in p16 expression and promoter methylation has been investigated. In this study 67 consecutive OSCC patients and 59 normal individuals were enrolled. All patients were candidates for surgery of oral cavity and fresh tumor biopsies were collected and processed for DNA and RNA extraction. Normal gingival tissues were collected from individuals referred to dentistry clinic and considered as controls. All the cases and controls were checked for HPV infection and then promoter methylation and expression of p16 gene were determined using Methylation-specific PCR (MSP) and real-time PCR (QPCR), respectively. Methylation of p16 in tumors and normal tissues were 59.7 and 38.9%, respectively. Most of hypermethylated samples (>82%) were in high grades. P16 methylation was comparable in HPV+ and HPV- patients or smokers. P16 was overexpressed (~3 fold; p = 0.044) in HPV+ tumors, but it was significantly down-regulated in smoker patients (40% of all tumors). Comparison of P16 expression in OSCC tumors with different degrees of promoter methylation further suggest the relationship of methylation rate and down-regulation of P16 expression. The p16 methylation and expression was differentially affected in patients with HPV infection and the smoker cases. Regardless of the influence of environmental factors, it appears that P16 status is useful for classifying patients with OSCC and for influencing treatment strategies in accordance with this classification. Moreover, targeting the upregulation of p16 could be a promising therapeutic option.

Several studies investigated the impact of 5-bp insertion/deletion (ins/del) polymorphism in the promoter region of GAS5 LncRNA on cancer risk and the results were inconsistent. So, we performed a meta-analysis to examine the association between GAS5 5-bp ins/del polymorphism and cancer risk. The PubMed, Web of Science, Scopus, and Google scholar databases were searched and 8 relevant studies including 7005 cases and 8576 controls participants were identified. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) were calculated and the findings did not support an association between 5-bp ins/del polymorphism and cancer risk. One of the main reason for the negative result may be the heterogeneity derived from different cancer type. Larger well-designed studies are required to validate the findings.

Several studies inspected the relationship between miR-218 rs11134527 polymorphism and the risk of some human cancers, but the findings remains controversial. We designed an update meta-analysis aiming to validate the association between rs11134527 polymorphism of miR-218 and cancer risk. Eligible studies including 7989 cancer cases and 8761 controls were recognized by searching Web of Science, PubMed, Scopus, and Google scholar databases. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) were estimated to quantitatively evaluate the association between rs11134527 variant and cancer risk. The overall results indicated no significant relationship between miR-218 rs11134527 polymorphism and cancer risk in codominant, dominant, recessive, overdominant, and allele inheritance model tested. Stratified analysis showed that rs11134527 variant significantly increased the risk of developing esophageal squamous cell carcinoma (ESCC) in heterozygous codominant (OR = 1.32, 95%CI = 1.03-1.69, p = 0.03, AG vs GG) inheritance model. In summary, the findings of this meta-analysis did not support an association between miR-218 rs11134527 polymorphism and cancer risk. Stratified analysis showed that rs11134527 variant significantly increased the risk of developing ESCC. Larger and well-designed researches are needed to estimate this association in detail.

Long noncoding RNA (lncRNA) H19, a well-known oncogenic lncRNA, is overexpressed in various cancers. Several studies have investigated the association between polymorphisms in lncRNA H19 and the risk of various cancer types; however, the findings were inconsistent. In this study, we performed a meta-analysis to identify the precise association between H19 polymorphisms and cancer risk. Appropriate studies were retrieved from searching Web of Science, PubMed, Scopus, and Google scholar databases, updated 25 November 2018. The pooled odds ratios (ORs with 95% confidence intervals (CIs) were calculated to estimate the strength of the association between H19 polymorphisms and cancer risk. Our findings revealed that the H19-rs217727 C>T polymorphism is significantly associated with an increased risk of overall cancer in homozygous codominant (OR=1.28, 95% CI=1.04-1.57, P =0.020, TT vs CC), dominant (OR=1.20, 95% CI=1.04-1.37, P =0.010, CT+TT vs CC), recessive (OR=1.21, 95% CI=1.00-1.46, P =0.048, TT vs CT+CC), and allele (OR=1.16, 95% CI=1.05-1.28, P =0.003, T vs C) genetic models. No significant correlations were observed between H19: rs2839698 G>A, rs2107425 C>T, rs2735971 C>T, rs3024270 G>C, rs3741219 T>C, rs2839701 C>G, rs2735469 C>T, rs17658052 G>A, and rs3741216 T>A polymorphisms and overall cancer risk. Stratified analysis by cancer type proposed that the rs217727 variant is associated with increased risk of oral squamous cell carcinoma (OSCC) and lung cancer, whereas the rs2839698 variant is associated with increased risk of gastrointestinal cancer. Taken together, these findings support an association between H19 rs217727, and rs2839698 polymorphisms and cancer susceptibility. Larger and well-designed studies are necessary to further confirm these findings in detail.

A number of case-control studies regarding the association of the polymorphisms in the programmed cell death 1 (PD-1) and programmed cell death ligand 1 (PD-L1) genes with the risk of cancer have yielded inconsistent findings. Therefore, we have conducted a comprehensive, updated meta-analysis study to identify the impact of PD-1 and PD-L1 polymorphisms on overall cancer susceptibility. The findings revealed that PD-1 rs2227981 and rs11568821 polymorphisms significantly decreased the overall cancer risk (Odds Ratio (OR) = 0.82, 95% CI = 0.68&ndash, 0.99, p = 0.04, TT vs. CT+CC, OR = 0.79, 95% CI = 0.67&ndash, 0.94, p = 0.006, AG vs. GG, and OR = 0.82, 95% CI = 0.70&ndash, 0.96, p = 0.020, AG+AA vs. GG, respectively), while PD-1 rs7421861 polymorphism significantly increased the risk of developing cancer (OR = 1.16, 95% CI = 1.02&ndash, 1.33, p = 0.03, CT vs. TT). The PD-L1 rs4143815 variant significantly decreased the risk of cancer in homozygous (OR = 0.62, 95% CI = 0.41&ndash, 0.94, p = 0.02), dominant (OR = 0.70, 95% CI = 0.50&ndash, 0.97, p = 0.03), recessive (OR = 0.76, 95% CI = 0.60&ndash, 0.96, p = 0.02), and allele (OR = 0.78, 95% CI = 0.63&ndash, 0.96, p = 0.02) genetic models. No significant association between rs2227982, rs36084323, rs10204525, and rs2890658 polymorphisms and overall cancer risk has been found. In conclusions, the results of this meta-analysis have revealed an association between PD-1 rs2227981, rs11568821, rs7421861, as well as PD-L1 rs4143815 polymorphisms and overall cancer susceptibility.

A number of case-control studies regarding the association of the polymorphisms in the programmed cell death 1 (PD-1) and programmed cell death ligand 1 (PD-L1) genes with the risk of cancer have yielded inconsistent findings. Therefore, we have conducted a comprehensive, updated meta-analysis study to identify the impact of PD-1 and PD-L1 polymorphisms on overall cancer susceptibility. The findings revealed that PD-1 rs2227981 and rs11568821 polymorphisms significantly decreased the overall cancer risk (Odds Ratio (OR) = 0.82, 95% CI = 0.68–0.99, p = 0.04, TT vs. CT+CC; OR = 0.79, 95% CI = 0.67–0.94, p = 0.006, AG vs. GG, and OR = 0.82, 95% CI = 0.70–0.96, p = 0.020, AG+AA vs. GG, respectively), while PD-1 rs7421861 polymorphism significantly increased the risk of developing cancer (OR = 1.16, 95% CI = 1.02–1.33, p = 0.03, CT vs. TT). The PD-L1 rs4143815 variant significantly decreased the risk of cancer in homozygous (OR = 0.62, 95% CI = 0.41–0.94, p = 0.02), dominant (OR = 0.70, 95% CI = 0.50–0.97, p = 0.03), recessive (OR = 0.76, 95% CI = 0.60–0.96, p = 0.02), and allele (OR = 0.78, 95% CI = 0.63–0.96, p = 0.02) genetic models. No significant association between rs2227982, rs36084323, rs10204525, and rs2890658 polymorphisms and overall cancer risk has been found. In conclusions, the results of this meta-analysis have revealed an association between PD-1 rs2227981, rs11568821, rs7421861, as well as PD-L1 rs4143815 polymorphisms and overall cancer susceptibility.

Background and Objectives: Several studies inspected the impact of P2X7 polymorphisms on individual susceptibility to tuberculosis (TB), but the findings are still controversial and inconclusive. To achieve a more precise estimation, we conducted a meta-analysis of all eligible studies on the association between P2X7 polymorphisms and TB risk. Materials and Methods: Relevant studies were identified by searching the PubMed, Web of Science, Scopus and Google scholar databases up to November 2018. Twenty-four full-text articles were included in our meta-analysis. The strength of association between P2X7 polymorphisms and TB risk was evaluated by odds ratios (ORs) and 95% confidence intervals (95% CIs) under five genetic models. Results: The findings of this meta-analysis revealed that the rs3751143 variant significantly increased the risk of TB in heterozygous codominant (OR = 1.44, 95%CI = 1.17−1.78, p = 0.0006, AC vs. AA), homozygous codominant (OR = 1.87, 95% CI = 1.40−2.49, p = 0.0004, CC vs. AA), dominant (OR = 1.50, 95% CI = 1.22−1.85, p = 0.0002, AC + CC vs. AA), recessive (OR = 1.61, 95% CI = 1.25−2.07, p = 0.001, CC vs. AC + AA), and allele (OR = 1.41, 95% CI = 1.19−1.67, p < 0.0001, C vs. A) genetic models. Stratified analysis showed that rs3751143 increased the risk of pulmonary tuberculosis (PTB) and extrapulmonary tuberculosis (EPTB) in all genetic models. Furthermore, the rs3751143 increased risk of TB in the Asian population. The findings did not support an association between the rs2393799, rs1718119, rs208294, rs7958311, and rs2230911 polymorphisms of P2X7 and TB risk. Conclusions: The findings of this meta-analysis suggest that P2X7 rs3751143 polymorphism may play a role in susceptibility to TB in the Asian population. More well-designed studies are required to elucidate the exact role of P2X7 polymorphisms on TB development.

The aim of this study was to investigate the relationship between the H-ras and Cox-2 gene expression in tumors from Iranian Oral Squamous Cell Carcinoma (OSCC) patients. Fresh tumor biopsies removed from oral cavity were collected from 67 new cases. Total RNA was extracted from biopsies and processed for quantification of H-ras and Cox-2 specific RNA expression using real-time PCR (QPCR). In addition, 59 gingival biopsies from apparently normal individuals were processed for QPCR assays. The results showed that Cox-2 expression at mRNA levels was at minimal levels in normal gingival biopsies. However, there was a surge in Cox-2 expression in tumor tissues (11.5 fold, p

Caspase-8 plays is an essential enzyme in apoptosis pathway. Several investigation have been done to identify the relation between CASP8 polymorphisms and different human cancers, but, the findings are still debated. The aim of the current investigation is to assess if CASP8 rs3834129 (−652 6N insertion/deletion), rs1045485 G > C, rs3769818 G > A, rs6723097 A > C, rs3769821 T > C, rs13113 T > A, rs3769825 G > A, rs2293554 A > C, and rs10931936 C > T polymorphisms are linked to susceptibility of cancer. Our team has extracted the eligible studies up to July 4, 2019, from different sources. Pooled odds ratios (ORs) with corresponding 95% confidence intervals (CIs) were estimated to quantitatively evaluate the association between CASP8 polymorphisms and cancer susceptibility. Our results showed that the rs3834129 and rs1045485 polymorphisms meaningfully reduced the risk of cancer, while the rs3769818, rs3769821 and rs3769825 polymorphisms considerably increased cancer susceptibility. No association of rs6723097, rs13113, rs2293554 and rs10931936 polymorphisms was observed with cancer susceptibility. The CASP8 rs3834129 polymorphism reduced the risk of gastrointestinal, digestive tract, colorectal, breast and lung cancers. Furthermore, the cancer risk was decreased in Asian and Caucasian populations as well as population- and hospital-based studies due to this polymorphism. There was not any relation between this gene polymorphism and the risk of prostate and cervical cancer development. Regarding the CASP8 rs1045485 polymorphism, the reduced breast cancer risk along with the risk of cancer in Caucasians, population- and hospital-based studies were observed.

Aim Several studies evaluated the association between rs11077 polymorphism located in the 3'UTR of the XPO5 gene and cancer susceptibility. We conducted a meta-analysis to assess the impact of XPO5 rs11077 polymorphism on cancer risk. Materials and methods The online databases were searched for relevant case-control studies published up to July 2018. 15 articles of 16 studies, with totally 7284 cancer cases and 8511 healthy controls, were eligible for inclusion in the meta-analysis. The data were extracted from the eligible studies and were processed using Stata 14.1 and Revman 5.3 software. Pooled estimates of odds ratio with 95% confidence intervals were used to evaluate the strength of association between XPO5 rs11077 and cancer risk. Results Overall, our finding showed no significant association between XPO5 rs11077 variant and overall cancer risk, either performed subgroup analysis by cancer types and ethnic groups in all genetic model. Conclusion The findings did not support an association between rs11077 variant and cancer risk. Due to small sample sizes particularly in stratified analysis, further large-scale well designed studies between this polymorphism and cancer risk are warranted.

Several studies examined the relationship between STAT3 rs1053004 polymorphism and the risk of some human cancers, but the findings remains inconclusive. To evaluate the impact of STAT3 rs1053004 on cancer risk, we conducted a meta-analysis of all available studies including 4,605 cancer cases and 5,248 controls. Eligible studies were identified by searching PubMed, Web of Science, Scopus, and Google scholar databases. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) were calculated in codominant, dominant, recessive, overdominant, and allele models to quantitatively estimate the association. The overall findings showed no significant association between STAT3 rs1053004 polymorphism and cancer risk in codominant, dominant, recessive, overdominant, and allele inheritance model tested. In summary, the findings of this meta-analysis indicates no significant association between STAT3 rs1053004 polymorphism and cancer development. Larger and well-designed studies are necessary to estimate this association in detail.

The present study aimed to assess any associations between resistin gene (RETN) polymorphisms and cancer susceptibility by conducting a meta-analysis. A comprehensive literature search was performed with PubMed, Web of Science, Scopus and Google Scholar for relevant studies published before April 2018. For the rs1862513 polymorphism, data from 9 studies covering 1,951 cancer patients and 2,295 healthy controls were included in this meta-analysis. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) were calculated. Our meta-analysis revealed that this RETN polymorphism significantly increased the risk of cancer in codominant (OR=1.23, 95% CI= 1.01-1.50, p=0.04, CG vs CC; and OR=1.25, 95% CI= 1.03-1.53, p=0.03, GG vs CC), dominant (OR=1.19, 95% CI= 1.05-1.35, p=0.006, CG+GG vs CC), and allele (OR=1.14, 95% CI= 1.00-1.30, p=0.04, G vs C) inheritance genetic models. Stratification analysis by cancer type revealed that the rs1862513 variant significantly increased the risk of colorectal and breast cancer, and that cancer overall in Caucasians (OR=1.22, 95% CI= 1.04-1.43, p=0.02, CG+GG vs CC; OR=1.18, 95% CI= 1.04-1.34, p=0.01, G vs C). The data revealed no correlation between the rs3745367 polymorphism and cancer risk. Further well-designed studies with larger sample sizes and different ethnicities are warranted to validate the present findings.

Survivin, a member of inhibitor of apoptosis protein family, is involved in the regulation of cell cycle and apoptosis. Several studies inspected the association between survivin polymorphisms and the risk of various cancers, but the findings remain controversial. We conducted a meta-analysis intending to certify the association between survivin polymorphisms and cancer risk. All analyses were achieved using RevMan 5.3 software and STATA 14.1 software. Eligible studies were collected by comprehensive literature searching Web of Science, PubMed, Scopus, and Google scholar databases. Pooled estimates of odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the overall impact of survivin polymorphisms on cancer risk. The overall analysis indicates that survivin rs9904341 polymorphism significantly increased the risk of cancer in homozygous codominant (OR 1.41, 95% CI 1.19–1.68, p = 0.0001, CC vs GG), dominant (OR 1.22, 95% CI 1.07–1.40, p = 0.003, CG+CC vs GG), recessive (OR 1.34, 95% CI 1.18–1.52, p

Previous studies have found inconsistent results regarding gene deletion in APOBEC3 (apolipoprotein B mRNA-editing catalytic polypeptide-like 3) and risk of cancer. We conducted a meta-analysis of all eligible case-control studies to find out the associations between APOBEC3 deletion and cancer risk by pooling the odds ratios (ORs) and corresponding 95% confidence intervals (CIs). Overall, the findings from 20 studies (13 articles) involving of a total of 26 225 cases and 37 201 controls revealed that DD genotype was associated significantly with increased cancer risk compared to II genotype (OR = 1.25, 95% CI = 1.01-1.56, P = 0.04). Stratified analysis from 10 studies including 14 757 cases and 17 930 controls revealed that I/D variant significantly increased the risk of breast cancer in heterozygous codominant (OR = 1.15, 95% CI = 1.03-1.28, P = 0.02, ID vs II), dominant (OR = 1.15, 95% CI = 1.01-1.31, P = 0.03, ID + DD vs II), overdominant (OR = 1.11, 95% CI = 1.05-1.25, P < 0.0001, ID vs DD + II) and allele (OR = 1.15, 95% CI = 1.13-1.25, P = 0.03, D vs I) inheritance models. In conclusion, the data propose that APOBEC3 deletion is significantly associated with increased susceptibility to cancer in overall and breast cancer. Our findings require well-designed replication in a larger independent genetic association study with larger sample sizes in diverse ethnicities.

Several studies inspected the relationship between caspase-3 (CASP3) polymorphisms and the risk of several human cancers, but the findings remain controversial. We conducted a meta-analysis aiming to inspect the association between CASP3 rs1049216 T>C, rs12108497 C>T, rs4647603 G>A, rs4647602 C>A, rs6948 T>G, rs2705897 A>C, and rs113420705 G>A polymorphisms and cancer risk. Eligible studies were recognized by searching the Web of Science, PubMed, Scopus, and Google Scholar databases. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) were estimated to quantitatively evaluate the association between each polymorphism of CASP3 and cancer risk. The rs4647603 variant significantly increased the risk of cancer in an overdominant (OR, 1.44; 95% CI, 1.03-2.01; P = 0.03; AG vs AA+GG) inheritance model. Regarding the rs4647602 variant, the findings revealed that this variant was associated with protection against cancer in homozygous codominant (OR, 0.67; 95% CI, 0.56-0.80; P < 0.00001; AA vs CC), dominant (OR, 0.84; 95% CI, 0.73-0.96; P = 0.009; AC+AA vs CC), recessive (OR, 0.70; 95% CI, 0.61-0.79; P < 0.00001; AA vs AC+CC), and allele (OR, 0.81; 95% CI, 0.75-0.88; P = 0.00001; A vs C) models. The findings suggested that the rs2705897 variant significantly decreased the risk of cancer in heterozygous codominant (OR, 0.80; 95% CI, 0.67-0.94; P = 0.009; AC vs AA), dominant (OR, 0.81; 95% CI, 0.69-0.95; P = 0.009; AC+CC vs AA), overdominant (OR, 0.80; 95% CI, 0.68-0.95; P = 0.01; AC vs CC+AA), and allele (OR, 0.85; 95% CI, 0.74-0.97; P = 0.02; C vs A) models. The results did not support an association between CASP3 rs1049216 and rs6948 polymorphisms and cancer risk. In summary, the findings of this meta-analysis support an association between CASP3 polymorphisms and cancer risk. Larger and well-designed studies are desired to evaluate these associations in detail.

Several studies investigated the association between miR-34b/c rs4938723 polymorphism and the risk of several human cancers, but the findings remain inconclusive. To evaluate the impact of miR-34b/c rs4938723 on cancer risk, we performed a meta-analysis on all available studies including 12 361 cancer cases and 14 270 controls. Eligible studies were identified by searching PubMed, Web of Science, Scopus, and Google scholar databases. Pooled odds ratios with 95% confidence intervals were calculated in codominant, dominant, recessive, overdominant, and allele models to quantitatively estimate the association. The overall findings showed no significant association between miR-34b/c rs4938723 polymorphism and cancer risk in codominant, dominant, recessive, overdominant, and allele inheritance model. However, in stratified analysis by cancer types, the rs4938723 polymorphism significantly increased the risk of gastrointestinal cancer, hepatocellular carcinoma. In addition, the rs4938723 polymorphism was associated with decreased risk of esophageal squamous cell carcinoma, colorectal cancer, and acute lymphoblastic leukemia. The findings did not support an association between rs4938723 variant and digestive tract as well as gastric cancer. In summary, the findings of this meta-analysis indicated that the miR-34b/c rs4938723 polymorphism might be associated with some cancer development. Larger and well-designed studies are necessary to estimate this association in detail.

OBJECTIVE To evaluate the possible association between cathepsin Z (CTSZ) rs34069356 C/T (Ala286Thr) and melanocortin-3 receptor (MC3R) rs6127698 G>T (-484 G/T) gene polymorphisms and pulmonary tuberculosis (PTB) in an Iranian sample population. DESIGN This case-control study included 150 PTB patients and 177 healthy subjects. Tetra amplification refractory mutation system-polymerase chain reaction was used to detect polymorphisms. RESULTS Our findings revealed that the MC3R rs6127698 TT genotype increased the risk of PTB compared with GG (additive model: OR 2.24, 95%CI 1.13-4.64, P = 0.021) as well as GG+GT (recessive model: OR 1.89, 95%CI 1.13-3.18, P = 0.016). The rs6127698 T allele increased the risk of PTB (OR 1.56, 95%CI 1.14-2.13, P = 0.005) compared to the G allele. The CTSZ rs34069356 polymorphism was not associated with PTB in additive-, dominant- and recessive-tested inheritance models (P > 0.05). CONCLUSION Our data suggest that MC3R rs6127698, but not CTSZ rs34069356 polymorphism, is associated with PTB in a sample Iranian population.

Oxidative damage is thought to play a pivotal role in the pathogenesis of nonalcoholic fatty liver disease (NAFLD). Glutathione-S-transferases (GSTs) are involved in cell protection against oxidative stress. We examined whether GSTM1, GSTT1, and GSTP1 polymorphisms are associated with NAFLD in a sample of the Iranian population. The current case-control study included 83 patients with NAFLD and 93 healthy subjects. The GSTM1 and GSTT1 polymorphisms were analyzed by multiplex polymerase chain reaction (PCR). The GSTP1 polymorphism was detected by tetra amplification refractory mutation system-PCR assay. The GSTM1-null genotype was significantly associated with the development of NAFLD (odds ratios [OR]=2.171, 95% confidence intervals [CI]=1.188-3.970, p=0.015). The GSTP1 Val allele was shown to be a risk factor for NAFLD (OR=1.739, 95% CI=1.089-2.777, p=0.024). The GSTT1 polymorphism was not significantly different between control and patient groups (p=0.221). This study showed that GSTM1 and GSTP1, but not GSTT1, genetic polymorphisms are associated with NAFLD in a sample of the Iranian population, and may be used to determine the risk of development of NAFLD.

Several studies have focused on the RAGE genetic background and have demonstrated that its polymorphisms affect the receptor's activity, expression, and downstream signaling. However, there is only little information regarding RAGE polymorphism in breast cancer. In the present study, the authors studied RAGE polymorphisms in 71 patients with breast cancer and 93 healthy women. RAGE -374T/A, -429T/C, and 63 bp Ins/del polymorphisms were analyzed using a hexaprimer amplification refractory mutation system PCR (H-ARMS-PCR). The results showed that RAGE polymorphisms are not associated with breast cancer in the current study population. Larger studies are required to confirm these data in other populations.

Background: The aim of the study was to investigate paraoxonase-1 (PON1) and aryl esterase (ARE) activities in patients with nonalcoholic fatty liver disease (NAFLD). Materials and methods: This case–control study was done on 83 subjects with confirmed NAFLD (50 male, 33 female, age; 40.46 ± 12.13 years) and 138 healthy individuals (75 male, 63 female; age; 40.94 ± 14.50 years). PON1, salt-stimulated PON1 and ARE activities were determined using paraoxon and phenyl acetate as substrate, respectively. Results: The levels of PON1 activities in NAFLD and healthy individuals were 90.83 ± 63.65 IU/L and 79.41 ± 68.14 IU/L, respectively. There was no significant differences regarding PON1 activity between NAFLD and healthy subjects (p = 0.229). While, ARE activity was significantly higher in NAFLD (83.34 ± 28.36 KU/L) than in normal subjects (64.06 ± 27.49 KU/L) (p < 0.001). Conclusions: Our results showed that PON1 activity is not a promising biomarker for the evaluation of NAFLD while arylesterase may have, but further studies in larger samples with different ethnic groups are required to validate our findings. © 2012 Elsevier Ireland Ltd. All rights reserved.

The protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene, which encodes an intracellular lymphoid-specific phosphatase, is considered an important regulator of T-cell activation. We investigated a possible association between the PTPN22 C1858T (R620W) polymorphism and pulmonary tuberculosis in an Iranian population. Single nucleotide polymorphisms of PTPN22 C1858T (rs2476601) were genotyped in 172 pulmonary tuberculosis cases and 204 normal subjects from Zaheden, Iran. Frequencies of genotypes CC, CT and TT of the PTPN22 C1858T polymorphism were 98.3, 1.7 and 0% in the pulmonary tuberculosis patients, and 96.1, 3.9 and 0% in the control group, respectively (P = 0.239). The frequency of the minor (T) allele was 0.8% in pulmonary tuberculosis patients and 2.0% in controls. Significant differences were not observed in genotype or allele frequencies of PTPN22 C1858T in the comparison between pulmonary tuberculosis patients and healthy subjects in our Iranian population sample.

Two single nucleotide polymorphisms (SNP, rs8099917, rs12979860) near the IL28B gene have been illustrated as outcome predictors of hepatitis C virus (HCV) treatment with pegylated interferon/ribavirin. The aim of the present study was to design a simple tetra-primer amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR) for the evaluation of the rs8099917 IL28B gene polymorphism. We efficiently designed a T-ARMS-PCR for detection of rs8099917 IL28B. Using this method, we genotyped 83 subjects with NAFLD (nonalcoholic fatty liver disease) and 93 healthy subjects. No significant differences were found in allelic and genotypic frequencies of rs8099917 IL28B gene polymorphism between NAFLD subjects and controls. The frequency of minor allele (G allele) was 0.13 in healthy and 0.19 in NAFLD subjects. In conclusion, we designed a simple, inexpensive, and reproducible T-ARMS-PCR for detection of rs8099917 IL28B polymorphism which can be used for routine assay. In addition, we found that rs8099917 polymorphism is not a risk factor for predisposition to NAFLD in a sample of Iranian population. Larger studies with different ethnics are required to validate our findings.

Background and Aims Although preeclampsia is one of the most common complications of pregnancy, the exact etiology of preeclampsia is unknown. Paraoxonase-1 (PON1) is a high-density lipoprotein-associated enzyme, which exhibits antioxidative and antiatherogenic activities. This study was aimed to determine the possible association between L55M and Q192R polymorphisms of paraoxonase-1 gene as well as serum PON1 and arylesterase (ARE) activities in preeclampsia. Methods This case-control study was performed on 105 preeclampsia patients and 84 normal healthy pregnant women. The polymorphisms of PON1 were determined using tetra ARMS-PCR method and serum paroxonase (PON1) and arylesterase (ARE) activities were measured spectrophotometrically. Results Results showed that 192 QR genotype of PON1 was higher among preeclampsia patients (43.8%) than control subjects (31.0%) (crude OR = 1.92, 95% CI, 1.03–3.57; adjusted OR = 2.07, 95% CI, 1.04–4.16,). The R allele is a risk factor for preeclampsia (OR = 1.64, 95% CI, 1.03–2.60, p = 0.038). There were no significant differences regarding L55M genotypes or alleles frequencies of PON1 among groups ( p >0.05). We found that serum paraoxonase and aryesterase activities were significantly higher in preeclampsia than controls ( p Conclusions PON1 allele 192R is a risk factor for preeclampsia. The clinical significance of an increase of serum PON1 and ARE activities in preeclampsia remains to be elucidated. More studies in larger samples with different ethnic groups are required to validate our findings.

Alpha-1 Antitrypsin (AAT) is a 52 kDa glycoprotein that is principally synthesized by the liver. It is the archetype of the serine protease inhibitor (Serpin) superfamily of proteins, which has a major role in inactivating neutrophil elastase and other proteases to retain protease – antiprotease equilibrium. AAT deficiency is a rare monogenic disorder characterized by low levels of AAT in serum and the lungs and it is well known to be associated with emphysema and liver disease. Inadequate knowledge of AAT deficiency might be due to under-recognition of this protein. To date, the exact role of AAT deficiency in various diseases has not been extensively elucidated. In this review, the current knowledge regarding the role AAT in various disorders will be discussed.

Thiopurine S-methyltransferase (TPMT, EC 2.1.1.67) plays a key role in the metabolism of thioprine drugs. Subjects with intermediate or no TPMT activity are at risk of azathioprines toxicity treated with conventional dosages of thiopurine drugs. While TPMT polymorphisms have been extensively studied in many countries, there is insufficient data in Iranian populations. In the present study, we aimed to identify the common functional TPMT alleles in southeast Iranian population. The TPMT allele frequencies were determined by multiplexed allele-specific polymerase chain reaction. Among 832 samples of Iranian population, the frequency for the TPMT*2, TPMT*3A, TPMT*3B and TPMT*3C, were 2.16%, 1.68%, 1.62%, and 0.54%, respectively. The distribution of the TPMT genotypes were 87.98% for TPMT*1/*1, 4.33% for TPMT*1/*2, 3.36% for TPMT*1/*3A, 3.24% for TPMT*1/*3B, and 1.08% for TPMT*1/*3C. This functional analysis of common TPMT alleles in an Iranian population could provide useful information for thioprine drugs therapy.

Decreased paraoxonase-1 (PON1) activity has been associated with rheumatoid arthritis. There are two polymorphisms in serum PON1; one differs in the amino acid at position 192 (Q192R) and the other one differs at position 55 (L55M). We looked for a possible association between Q192R polymorphism and rheumatoid arthritis. The Q192R polymorphism in 88 rheumatoid arthritis patients and 78 healthy subjects was determined using tetra amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) and PCR-restriction fragment length polymorphism (RFLP) methods. We found no significant differences between rheumatoid arthritis patients and control subjects regarding PON1 Q192R polymorphism. PON1 Q192R polymorphism was not found to be correlated with increased risk for rheumatoid arthritis in this Iranian population.

The aim of this study was to investigate the possible association between TGF-β1 -509 C/T (rs1800469), 29 C/T (Prol10Leu, rs1800470) and 788 C/T (Thr263Ile, rs1800472) gene polymorphisms and chronic periodontitis (CP) in a sample of Iranian population. This case-control study was conducted on 100 CP patients and 100 healthy unrelated, age-, sex-, and ethnicity-matched. Genotyping was performed by tetra amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR) technique. Our findings showed that there was a significant difference between the groups regarding TGF-β1 29 C/T (rs1800470) polymorphism (χ2=23.23, P

Interleukin-18 (IL-18) plays a critical role in immune response, contributing to the pathogenesis and pathophysiology of infectious diseases. Polymorphisms in the IL-18 genes are known to influence expression levels and may be associated with outcome of infections. The objective of this study was to determine whether the presence of IL-18 polymorphisms -607 A/C (rs1946518) was associated with tuberculosis disease. We investigated the functional polymorphism of IL-18 (rs1946518) in 174 patients with pulmonary tuberculosis (PTB) and 177 healthy subjects. Genotype analysis was done using tetra amplification refractory mutation system-PCR (T-ARMS-PCR). The allelic and genotypic frequencies of the IL-18 polymorphism did not differ significantly between PTB and the controls. Our finding suggests that IL-18 polymorphism (rs1946518) may not be a risk factor for susceptibility to tuberculosis in a sample of Iranian population. Further studies are required to validate our findings.

Genetic and environmental factors are important for the development of nonalcoholic fatty liver disease (NAFLD). The aim of the present study was to examine the single nucleotide polymorphism (SNP) -129C/T (rs17883901) in glutamate-cysteine ligase catalytic subunit (GCLC) and SNPs I128T (rs3816873) and Q95H (rs61733139) in microsomal triglyceride transfer protein (MTTP) in NAFLD. Eighty-three patients with a diagnosis of NAFLD and 93 healthy subjects were included in the study. Tetra amplification refractory mutation system-polymerase chain reaction was designed to detect the SNPs. There were no significant differences in the polymorphism of -129C/T (rs17883901) of the GCLC gene among NAFLD and control groups (p 0.05). A significant difference was observed between NAFLD and control group regarding the SNP I128T (rs3816873) in the coding region of the MTTP gene (p 0.05). The CT genotype increased susceptibility to NAFLD (OR: 2.467; 95% CI: 1.253-4.854; p = 0.008). No significant difference was found among the groups regarding the SNP in the coding region of MTTP gene Q95H (rs61733139). In conclusion, MTTP rs3816873 polymorphism might be a candidate to determine susceptibility to NAFLD. Larger studies are necessary to confirm these findings in various populations.

Objectives The aim of this study was to estimate the serum activity of paraoxonase 1(PON1) and assess the distribution of PON1 polymorphisms in MS patients in the relapse phase. Design and methods PON1 and arylesterase (ARE) serum activities were measured in two equal groups (each group 63 cases) of relapsing–remitting MS patients and healthy individuals. Results Mean values for serum PON1 and ARE activities were 90.3 ± 63.4 and 182.1 ± 128.7 IU/L for patients and 99.9 ± 73.3 and 190.8 ± 150.3 IU/L for controls. Those values were not statistically significant ( p = 0.242 and p = 0.378), respectively. Comparing genotype distributions and allele frequencies in both groups for PON1 Q192R and PON L55M polymorphisms did not show any statistical difference. Conclusion In a selected group of MS patients in relapsing phase no statistically significant difference in PON1 and ARE activities was detected but the mean values for the serum enzyme activities were lower in MS patients.

ObjectiveParaoxonase (PON) is associated with high-density lipoprotein and protects serum lipid from oxidation. The aim of this study was to determine serum PON, arylesterase (ARE) activities, and total antioxidant capacity (TAC) in metabolic syndrome (MES).MethodsThis case–control study was performed on 106 patients with MES and 231 healthy subjects. Serum PON and ARE activities were determined spectrophotometrically. TAC was determined using ferric reducing ability of plasma assay.ResultsThe results showed that serum PON activity was significantly lower in patients with MES (69.62±59.86 IU/l) than healthy subjects (91.64±77.45 IU/l) (PPConclusionThe lower PON and ARE activities in MES may be considered an independent risk factor for cardiovascular disease, which remains to be cleared.

To analyze the promoter methylation profile and mRNA expression of the p14ARF gene in oral squamous cell carcinoma (OSCC).Promoter methylation of the p14ARF gene was investigated by methylation-specific polymerase chain reaction in paraffin-embedded tissues from 76 patients with OSCC and 57 oral tissues used as healthy controls. Expression of p14ARF mRNA was also determined using real-time quantitative reverse-transcription PCR. The methylation status and mRNA level profile of the gene and their relationship with clinical data were analyzed.Methylation of the p14ARF gene in OSCC was significantly increased compared to normal control tissues (chi(2) = 16.73, p0.0001). The relative expression of p14ARF mRNA in OSCC was not significantly different from that in healthy control samples.Promoter methylation of p14ARF may be an important mechanism in OSCC, and its determination may be considered an important tool in the early diagnosis and treatment of OSCC.

Background: It is well known that toll-like receptor 2 (TLR2) mediates responses of both innate and adaptive immunity to microbial pathogen, including mycobacteria. Single-nucleotide polymorphisms (SNPs) in the TLR2 gene that impair its function may be associated with the development of pulmonary tuberculosis (PTB). The aim of this study was to evaluate the possible association between TLR2 Arg677Trp and 597T/C polymorphisms and PTB in a sample of Iranian population. Materials and methods: This case–control study was performed on 174 PTB and 177 healthy subjects. Tetra amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR) was used to detect the SNPs. Results: There was no significant difference in the polymorphism of Arg677Trp of the TLR2 gene among PTB and control groups (p > 0.05). The results showed that there was a significant difference between case and control groups regarding 597T/C polymorphism (χ2 = 12.21, p = 0.002). The TC and CC genotypes were found to be associated with the risk of PTB (OR = 2.13, 95% CI = 1.25–3.62, p = 0.005 and OR = 4.88, 95% CI = 1.56–15.26, p = 0.007, respectively). Conclusion: Our data suggest that 597T/C polymorphism, but not Arg677Trp polymorphism, of the TLR-2 gene is a risk factor for susceptibility to PTB in a sample of Iranian population. Keywords: Tuberculosis, TLR2, Single nucleotide polymorphism

Aims To analyze the promoter methylation profile and mRNA expression of the p14ARF gene in oral squamous cell carcinoma (OSCC). Methods Promoter methylation of the p14ARF gene was investigated by methylation-specific polymerase chain reaction in paraffin-embedded tissues from 76 patients with OSCC and 57 oral tissues used as healthy controls. Expression of p14ARF mRNA was also determined using real-time quantitative reverse-transcription PCR. The methylation status and mRNA level profile of the gene and their relationship with clinical data were analyzed. Results Methylation of the p14ARF gene in OSCC was significantly increased compared to normal control tissues (χ2 = 16.73, pARF mRNA in OSCC was not significantly different from that in healthy control samples. Conclusion Promoter methylation of p14ARF may be an important mechanism in OSCC, and its determination may be considered an important tool in the early diagnosis and treatment of OSCC.