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Type 2 diabetes mellitus (T2DM) is a complex heterogeneous disease resulting from the environment and genetic interactions. Lately, genetic association studies have shown that polymorphisms in long noncoding RNAs (lncRNAs) are associated with T2DM susceptibility. This preliminary study is aimed at investigating if HOX transcript antisense RNA (HOTAIR) polymorphisms contribute to T2DM development. Five hundred clinically diagnosed T2DM cases and 500 healthy controls were recruited from the southeast Iranian population. Genomic DNA was isolated from nucleated blood cells and genotyped for MspI (C/T) (rs920778) and AluI (A/G) (rs4759314) polymorphisms using the PCR-RFLP technique. For genotyping rs12826786 C/T and rs1899663 G/T variants, ARMS-PCR method was applied. Our findings indicated that HOTAIR rs920778 C/T, rs12826786 C/T, and rs4759314 A/G polymorphisms have a significant positive association with T2DM, while a negative association was observed between rs1899663 G/T T2DM susceptibility. Significant associations were also observed between rs920778 C/T and HDL-C as well as s4759314 A/G and both FBS and LDL-C in T2DM patients. Haplotype analysis indicated that the CGCG, CTTG, TGTA, and TTTG haplotypes of rs920778/rs1899663/rs12826786/rs4759314 significantly enhanced T2DM risk by 1.47, 1.96, 2.81, and 4.80 folds, respectively. No strong linkage disequilibrium was found between the four HOTAIR SNPs. We firstly reported that HOTAIR rs1899663 G/T, rs12826786 C/T, rs4759314 A/G, and rs920778 C/T polymorphisms might influence T2DM susceptibility by modulating different signaling pathways and could be regarded as potential prognostic markers in T2DM patients.

As the present coronavirus disease 2019 (COVID-19) spreads and existing data suggested susceptibility factors for developing a severe course of the disease. This case-control experiment aimed to study the associations of genetic polymorphisms in tumor necrosis factors (TNFs) with COVID-19 and its mortality rate. A total of 550 participants (275 subjects and 275 controls) were enrolled. The tetra-ARMS-PCR technique was recruited to detect -308G>A TNFα and +252A>G TNFβ polymorphisms among the Iranian population. We demonstrated that participants carrying the G allele of TNFβ-252A/G, rs909253 A>G was more frequent in COVID-19 subjects compared to the healthy group and statistically increased the disease risk (OR=1.55, 95% CI=1.23-1.96, P A moderately decreased the risk of COVID-19 (OR=0.68, 95% CI=0.53-0.86, P G, the CT scan pattern was different in comparison to cases in the AG genotype with P 1 A variant is likely to change the pattern of splicing factor sites. Our findings provided deep insights into the relationship between TNFα/TNFβ polymorphisms and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Replicated studies may give scientific evidence for exploring molecular mechanisms of COVID-19 in other ethnicities. This article is protected by copyright. All rights reserved.

Changes in pro-inflammatory cytokines are key mechanisms leading to kidney fibrosis. Among microRNAs, miR146 is well studied for its diverse roles in modulating immune responses and inflammation. This paper aims to study the prevalence of three functional miR146a gene polymorphisms (rs2910164 C/G, rs57095329 A/G, and rs6864584 T/C) in diabetic and non-diabetic patients with chronic kidney disease (CKD). One hundred fifty CKD patients (73 men, 77 women, mean age 52.17 years) and 150 healthy controls participated in this case–control study. CKD patients were divided into a diabetic nephropathy group and a non-diabetic group. Genotyping was performed by PCR–RFLP and allele-specific-PCR techniques. We found that rs2910164 C/G and rs57095329 A/G polymorphisms significantly enhanced the risk of CKD under different genetic models. Besides, these variations were associated with increased CKD risk in diabetic and non-diabetic patients. On the contrary, the rs6864584 T/C variant was associated with a decreased risk of CKD in non-diabetic patients. There were no notable changes in p-values after adjustment for age, sex, and body mass index. Although no strong linkage was found between the studied variants. In the meantime, different haplotypes of miR146a polymorphisms were associated with enhanced risk of CKD. In summary, our findings provided evidence for the association of miR146a gene polymorphisms with CKD risk in both diabetic and non-diabetic patients. Further studies on different races with larger sample sizes are needed to confirm the current results.

Single nucleotide polymorphisms within genes encoding microRNAs may alter the expression of microRNAs and their target genes, contributing to the etiology of psychiatric disorders. We aimed to investigate the link between rs4705342T/C and rs4705343T/C polymorphisms in the promoter region of miR-143 and the risk of schizophrenia (SCZ) in a sample of an Iranian population. In this experimental study, a total of 398 subjects were recruited. Genotyping carried out using allele‐specific PCR (AS‐PCR) method. Different bioinformatics databases and Cytoscape V3.4.0 software were used for the analysis of the gene-miRNA interaction network. The genotypic analysis of rs4705342C/T showed that CC genotype in the co-dominant model significantly decreased the risk of SCZ (p

Most commonly recognized as a catabolic pathway, autophagy is a perplexing mechanism through which a living cell can free itself of excess cytoplasmic components, i.e., organelles, by means of certain membranous vesicles or lysosomes filled with degrading enzymes. Upon exposure to external insult or internal stimuli, the cell might opt to activate such a pathway, through which it can gain control over the maintenance of intracellular components and thus sustain homeostasis by intercepting the formation of unnecessary structures or eliminating the already present dysfunctional or inutile organelles. Despite such appropriateness, autophagy might also be considered a frailty for the cell, as it has been said to have a rather complicated role in tumorigenesis. A merit in the early stages of tumor formation, autophagy appears to be salutary because of its tumor-suppressing effects. In fact, several investigations on tumorigenesis have reported diminished levels of autophagic activity in tumor cells, which might result in transition to malignancy. On the contrary, autophagy has been suggested to be a seemingly favorable mechanism to progressed malignancies, as it contributes to survival of such cells. Based on the recent literature, this mechanism might also be activated upon the entry of engineered nanomaterials inside a cell, supposedly protecting the host from foreign materials. Accordingly, there is a good chance that therapeutic interventions for modulating autophagy in malignant cells using nanoparticles may sensitize cancerous cells to certain treatment modalities, e.g., radiotherapy. In this review, we will discuss the signaling pathways involved in autophagy and the significance of the mechanism itself in apoptosis and tumorigenesis while shedding light on possible alterations in autophagy through engineered nanomaterials and their potential therapeutic applications in cancer. SIGNIFICANCE STATEMENT: Autophagy has been said to have a complicated role in tumorigenesis. In the early stages of tumor formation, autophagy appears to be salutary because of its tumor-suppressing effects. On the contrary, autophagy has been suggested to be a favorable mechanism to progressed malignancies. This mechanism might be affected upon the entry of nanomaterials inside a cell. Accordingly, therapeutic interventions for modulating autophagy using nanoparticles may sensitize cancerous cells to certain therapies.

Background: Several single-nucleotide polymorphisms (SNPs) in IL1B genes have been associated with KTCN. However, the results of these studies were not conclusive. This meta-analysis association st...

Recent studies have suggested that single-nucleotide polymorphisms (SNPs) located in the miR-143/145 cluster might be linked to cancer risk. In this meta-analysis association study, we sought to qu...

Purpose: To investigate the link between two variants (rs4705342 and rs4705343) in the promoter of the miR-143/145 cluster with Type 2 diabetes mellitus (T2DM) risk. Methods:A total of 1200 subject...

To investigate if single-nucleotide polymorphisms (SNPs) in the NR1H2 gene encoding LXRβ contribute to the development of type-2 diabetes mellitus (T2DM) and whether genotypes of two NR1H2 polymorphisms, rs28514894 and rs2303044, are associated with laboratory characteristics of T2DM patients. A total of 900 subjects (450 T2DM cases and 450 healthy subjects) of Iranian ancestry were genotyped for NR1H2 polymorphisms via ARMS-PCR and PCR-RFLP techniques. Our findings showed a significant correlation between both polymorphisms and increased risk of T2DM. The haplotype analysis showed an association between the C A haplotype with enhanced risk of T2DM. In T2DM patients, the mean level of HbA1C and BUN significantly differed among carriers of CC and TT genotypes of the rs28514894 polymorphism (P = 0.05 and P

MiR-143/145 cluster is a novel transcriptional target of many signaling pathways, with variations within this cluster contributed to the risk of multiple diseases. To date, no data regarding the link between miR143/145 cluster polymorphisms and the risk of developing chronic kidney disease (CKD) has been reported. Hence, we aimed to examine such association in a population of Iranian ancestry. In this preliminary study, 276 CKD patients and 300 unrelated age and sex-matched healthy controls were recruited. Genotyping was performed by PCR-RFLP and allele-specific-PCR methods. Computational analyses were performed to predict the potential effects of the variants. Our findings indicated that rs41291957, rs12659504, and rs353292 polymorphisms were positively associated with CKD, while rs4705342 and rs4705343 polymorphisms demonstrated a significant negative association with the disease. Moreover, a significant association was observed between CC + TC and TT genotypes and CKD stages. We found that AACTT, AATTC, AATTT, GATTC, GATTT, and GGCTT haplotypes significantly enhanced the risk of CKD compared with the Grs41291957AArs12659504Crs353292Trs4705342Trs4705343 haplotype. Computational analysis showed that rs353292, rs4705342, and rs4705343 might alter the binding of the transcription factors in this gene cluster. We found that miR-143/145 cluster polymorphisms were associated with CKD risk in a sample of the Iranian population. Replicated studies on different ethnicities are necessary to investigate the association between these promoter variants and clinical outcomes.

Genetic background is an important risk factor for type 2 diabetes mellitus (T2DM). We designed this study to examine the role of rs12778366 and rs3758391, two functional SIRT1 gene polymorphisms, on the risk of T2DM in an Iranian population. In this case-control study, a total of 813 subjects were enrolled. SNPs were genotyped via polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Multiple computational analyses were also performed to examine the potential effects of the studied variants. We found a significant association between rs12778366 polymorphism and an enhanced risk of T2DM under allelic C vs. T (OR = 1.50), codominant TC vs.TT (OR = 1.86), dominant CC + TC vs. TT (OR = 1.65), and over-dominant TC vs. CC + TT (OR = 1.80) genetic models. In contrast, codominant CT vs. CC (OR = 0.54) and dominant CT + TT vs. CC (OR = 0.68) models of rs3758391 polymorphism were correlated with decreased risk of T2DM. Compared to the TC haplotype, we have found that the CC combination significantly enhanced the risk of T2DM by 1.86-fold. Computational analyses indicated that the C allele of rs12778366 might disrupt the binding site of the CEBP transcription factor. SIRT1 rs12778366 and rs3758391 polymorphisms might be associated with T2DM susceptibility in our population. Replications in different races with larger sample sizes are necessary to yield more accurate results.

Converging evidence has recently established the significance of γ-aminobutyric acid neurotransmitter (GABA) system in the development of schizophrenia (SCZ). We aimed to determine the association ...

ObjectiveGrowing evidence suggests that IL-1β -511C>T, as a functional variant, affects the risk of developing breast cancer (BC); however, the results have not been conclusive. This meta-analysis was conducted to estimate the link between this variant and BC risk.MethodsWe retrieved available publications on IL-1β -511C>T polymorphism by conducting a comprehensive literature search on the Web of Science, MEDLINE, PubMed, Scopus, and Google scholar databases (last search on February 25, 2020).ResultsThe overall analysis indicates that IL-1β -511C>T polymorphism conferred an increased risk of BC under a recessive TT vs CT+CC model by 1.14-fold and showed protection against BC under an overdominant CT vs TT+CC genetic contrast model (odds ratio = 0.84). Stratified analysis based on ethnicity revealed the protective effect of this single-nucleotide polymorphism against BC risk in Caucasian patients.ConclusionOur data results provide a proof of concept for the association of IL-1β -511C>T with BC risk. Larger, well-designed population-based studies are needed to confirm these findings.

Type 2 diabetes mellitus (T2DM) is a heterogenic disease with increasing incidence. The SLC30A8 gene encodes an islet zinc transporter (ZnT8), and its variants have been associated with glucose and pro-insulin levels. This study was aimed to examine the effects of a missense variant (rs13266634 C/T), and two 3’UTR variants (rs2466294 C/G and rs2466293 T/C) in SLC30A8 gene on T2DM risk in a south-east Iranian population. In this experiment, 450 patients diagnosed with T2DM and 453 healthy subjects from the same geographic area were enrolled. Genotypes were amplified using the ARMS–PCR method. In silico analyses were performed to determine the effects of the variants on the local structure of mRNA, splicing patterns, and potential miRNA-gene interactions as well. Significant differences were noticed between cases and controls regarding the genotypic and allelic distribution of the studied variants. As regards rs2466293 and rs2466294 variants, enhanced risk of T2DM was found under allelic, dominant, recessive, and codominant models (OR > 1). Besides, different genetic models of rs13266634 were associated with decreased risk of T2DM (OR

Schizophrenia (SCZ) is a multifactorial disorder caused by environmental and genetic factors. Studies have shown that various single-nucleotide polymorphisms (SNPs) in the binding sites of microRNAs contribute to the risk of developing SCZ. We aimed to investigate whether the variants located in the 3′-UTR region of LIF (rs929271T>G) and ATF6B (rs8283G>A) were associated with increased susceptibility to SCZ in a population from the south-east of Iran. In this case-control study, a total of 396 subjects were recruited. SNPs were genotyped via polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Genotyping results showed that the G allele of rs929271 significantly increased the risk of SCZ (OR = 1.58 95%CI = 1.19–2.10, p = 0.001). As for rs929271, the GG genotype of co-dominant (OR = 2.54 95%CI = 1.39–4.64, p = 0.002) and recessive (OR = 2.91 95%CI = 1.77–4.80, p

Recent studies have shown that long noncoding RNAs contribute to the pathogenesis of bipolar disorder (BD). In this study, we genotyped four HOX Transcript Antisense Intergenic RNA (

Cytokines play pivotal functions in coronavirus disease 2019 (COVID-19) pathogenesis. However, little is known about the rationale and importance of genetic variations associated with immune system responses, so-called "immunogenetic profiling." We studied whether polymorphisms of IL6, IL6R, TNFA, and IL1RN affect the disorder severity and outcome in patients infected with COVID19. We recruited 317 hospitalized patients with laboratory-confirmed COVID-19 from Bu-Ali hospital and 317 high-risk participants who had high exposure to COVID-19 patients but with a negative real-time-polymerase chain reaction (PCR) test. Multiple regression analyses were applied. We indicated that participants carrying the A allele in TNFA-rs361525, GA (p .004), the C allele in IL1RN-rs419598 TC (p .004), the A allele in IL6R-rs2228145, AC (p = .047) are more susceptible to develop COVID-19. In contrast, those who carry the G allele of IL6-rs2069827, GT (p = .01), are more protected from COVID-19. Also, we compared the various genotypes regarding the disorder severity and poor prognosis; we found that the AA genotype in TNFA is related to more aggressive illness and bad prognostic in contrast to the other inflammatory cytokines' genotypes. In addition, a high level of inflammatory indications, such as neutrophil-to-lymphocyte ratio and systemic immune-inflammation index, was observed in deceased patients compared with the survived subjects (p .0001). We advised considering inflammatory cytokines polymorphisms as the main item to realize the therapeutic response against the acute respiratory distress syndrome induced by the SARS-CoV-2 virus.

Coronavirus disease 2019 (COVID-19) is a severe disease caused by a new variant of beta-coronavirus that first appeared in China. Human genetic factors, including polymorphisms, serve pivotal roles in the high transmission of SARS-CoV-2 and the stubbornly progressing sickness seen in a small but significant percentage of infected people; however, but these factors remain ill-defined. A total of 288 COVID-19 patients and 288 controls were genotyped for TMPRSS2 polymorphisms using both restriction fragment length polymorphism polymerase chain reaction (RFLP-PCR) and amplification refractory mutation system (ARMS)-PCR techniques. Different genotypes of TMPRSS2 polymorphisms were compared in terms of disease susceptibility and mortality. The statistical analysis showed that minor alleles of all studied variants statistically increased the risk of COVID-19, except for the rs75603675 C A variant. The T allele of rs12329760 conferred an increased risk of COVID-19. Moreover, the AG/AC/TT/AG combination of genotypes significantly enhanced the risk of COVID-19 in our population. Different haplotypes of rs17854725/rs75603675/rs12329760/rs4303795 polymorphisms, including GACA, GACG, GATG, GATA, AATA, ACCG, ACTG, ACTA, GCCA, and GCTG, were found to be associated with increased risk of the disease (odds ratio1). Regarding the clinical and paraclinical characteristics, a statistically significant difference was found between non-severe and severe forms except for gender, platelet, C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), and underlying diseases. In addition, case genotypes of TMPRSS2 rs17854725 A G, rs12329760 C T, and rs4303795 A G were significantly different regarding severe and non-severe forms of the disease (P-value 0.001). Specifically, death was more frequent in carriers of the AG genotype of rs17854725 AG (P-value = 0.022). Patients who carry the minor alleles of the four studied TMPRSS2 variants were rather vulnerable to COVID-19 infection. Our findings indicated that rs17854725 A G (AA vs. AG and AA vs. GG), rs12329760 C T (CC vs. CT and CC vs. TT), and rs4303795 A G (AA vs. AG) genotypes of TMPRSS2 variations are associated with a more invasive disorder pattern. More studies on larger populations are needed to confirm our results.

Accumulating evidence has suggested that miR-137 and its target genes, CACNA1C, and TCF4, are amongst the most robustly implicated genes in psychiatric disorders. This preliminary study is aimed at investigating the effects of genetic variations in miR-137 (rs1625579A/C), TCF4 (rs1261084C/T), and CACNA1C (rs10774053A/G and rs10466907G/T) on BD susceptibility. We recruited 252 BD patients and 213 healthy subjects as the control group. Genotyping was performed using PCR-RFLP and ARMS-PCR methods. Enhanced risk of BD was found under the codominant homozygous, dominant, and allelic models of TCF4 rs1261084C/T, codominant homozygous and allelic models of CACNA1C rs10466907G/T polymorphisms, as well as codominant homozygous, dominant, recessive, and allelic models of the CACNA1C rs10774053A/G. Moreover, both TT/AG/GT/AA and TT/GG/GT/AC genotype combinations strongly increased the risk of BD in the participants. The bioinformatics analyses revealed that rs1261084C/T and rs10466907G/T created and disrupted binding sites of some miRNAs in the 3′-untranslated region of TCF4 and CACNA1C genes. In contrast, the rs10774053A/G created a new binding site for a major splicing factor and might have an effective role in the function of the CACNA1C protein. We have found that all the studied SNPs are positively associated with BD susceptibility. Replicated studies on different ethnicities are required to confirm these findings.

Keratoconus (KTCN) is a congenital corneal eye disorder which correlates with abnormal distribution of the collagen fiber and causes loss of visual acuity. COLA4A gene has a substantive role in collagen synthesis, whereas KIF26B as a new candidate gene belonging to kinesin superfamily (KIFs) has been suggested to be associated with this disease. So, in this preliminary study, we simultaneously evaluated the effects of two single nucleotide polymorphisms, 222855rs7C/T and rs12407427C/T, on KTCN susceptibility in a sample of Iranian population. The present case–control study consists of 144 patients confirmed with KTCN and 153 healthy controls. The variants are genotyped by using amplification refractory mutation system–polymerase chain reaction method. The findings disclosed that rs2228557C/T and rs12407427C/T polymorphisms significantly increased the risk of KTCN in measured (codominant1; p = 0.0001, codominant2; p = 0.0001, codominant3; p = 0.0006, dominant; p = 0.0001, over-dominant; p = 0.0005) and (codominant1; p = 0.0001, codominant3; p = 0.0005, recessive; p = 0.0001) inheritance patterns, respectively. Our results did prove a statistical association of both rs2228557 and rs12407427 genotypes (TT and CT + CC) and allele (T) with KTCN susceptibility in Iranian population. Further studies in other ethnicities are required to verify our results.

Background: Schizophrenia (SZN) is a heterogeneous disorder. Recently, the role of purinergic receptor’s signaling in mental disorders has implicated. There is no evidence regarding the association of P2XR4 single nucleotide polymorphisms (SNPs) and the risk of behavioral disorders. Therefore, this preliminary study, we determined the association of rs1169727A/G and rs25644A/G variants located in P2XR4 gene with the risk of SZN. Methods: This case-control study was performed on 150 SZN patient referring to Baharan Hospital, Zahedan (Eastern of Iran) in 2018. Genotyping was done by tetra-amplification refractory mutation system polymerase chain reaction (Tetra ARMS-PCR). Different databases were used to determine the effects of the SNPs on the secondary structure of P2XR4 pre-mRNA and protein as well as binding of transcriptional regulators. Results: The G allele of rs1169727 significantly increased the risk of SZN (OR=1.41, 95%CI=1.02-1.93, P=0.039), but there was no significant association was found between the other SNP and SZN. Moreover, GG model of rs1169727 (OR=2.46, 95%CI= 1.32-4.62, P=0.004) and rs25644 (OR=3.45, 95%CI= 1.12-5.10, P=0.013) increased the risk of SZN. The substitution of A and G alleles of rs1169727 significantly altered the secondary structure of pre-mRNA (P=0.1). In silico analysis revealed that rs25644A/G could act as an intronic cryptic donor site. Screening for flanking sequence of rs1169727A/G and rs25644A/G predicted a novel enhancer and silencer for both SNPs. Conclusion: rs1169727A/G and rs25644A/G are linked to SZN susceptibility in a sample of the Iranian population. In-silico analysis indicated that rs25644 have substantial roles in determining the pre-mRNA and protein structure of P2XR4 gene.

Background: The rs315952 (Ser133Ser) has been reported to influence the risk for immune-mediated as well as inflammatory diseases in many studies; however, the results remain inconsistent. The current meta-analysis was performed to give a more precise estimation for the relationship between this IL-1Ra missense variant and the risk of both types of diseases. Methods: Relevant publications were retrieved through a literature search in Web of Science, Medline, PubMed, Scopus, EMBASE, and Google scholar search engines, between 2000 and 2019. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to assess the strength of the association. Results: Twenty-two studies, including 2622 cases with and 3854 controls were identified. The IL-1Ra Ser133Ser variant does not confer an increased overall risk for immune-mediated and inflammatory diseases. This variant was statistically associated with decreased risk of systemic lupus erythematosus (under allelic, codominant heterozygous, and dominant models) or ankylosing spondylitis (in allelic and recessive models)(OR

Recent studies have suggested that single-nucleotide polymorphisms (SNPs) located in the

Background: KIF26B gene is found to play essential roles in regulating different aspects of cell proliferation and development of the nervous system. We aimed to determine if rs12407427 T/C polymorphism could affect susceptibility to schizophrenia (SZN) and breast cancer (BC), the two genetically correlated diseases. Methods: The current case-control study was performed from Aug 2018 to Dec 2018. Briefly, 159 female pathologically confirmed BC cases referring to Alzahra Hospital, Isfahan, Iran, and 102 psychologically confirmed SZN patients (60 males and 42 females) admitted to Baharan Hospital, Zahedan, Iran, were enrolled. Using the salting-out method, genomic DNA was extracted, and variants were genotyped using allele-specific amplification refractory mutation system polymerase chain reaction (ARMS-PCR) method. Results: The results revealed a significant association between the KIF26B rs12407427 codominant CT (P=0.001), CC (P=0.0001), dominant CT+CC, and recessive CC (P=0.001) genotypes with the risk of developing SZN. Significant correlations were also found regarding rs12407427 and BC susceptibility in different inheritance models, including over-dominant CT (P=0.026), dominant CT+CC (P=0.001), recessive CC (P=0.009), and codominant CT and CC (P=0.001) genotypes. The over-presence of the C allele was also correlated with an increased risk for SZN (P=0.0001) and BC (P=0.0001). Finally, computational analysis predicted that T/C variation in this polymorphism could change the binding sites in proteins involved in splicing. Conclusion: rs12407427 T/C as a de novo KIF26B variant might be a novel genetic biomarker for SZN and/or BC susceptibility in a sample of the Iranian population.

Background: Oral squamous cell carcinoma (OSCC) is the most common malignancy of the oral cavity and oral lichen planus (OLP) is considered a premalignant disease. Objectives: This study aims at comparing the salivary levels of lactate dehydrogenase (LDH), C-reactive protein (CRP), and cancer antigen 125 (CA125) among cases with OSCC, OLP, and healthy persons. Methods: In this case-control study, salivary markers were evaluated in 55 cases (15 patients with OSCC, 20 patients with OLP, and 20 healthy persons); non-stimulated saliva samples were collected from the patients and saliva markers were measured by the enzyme-linked immunosorbent assay (ELISA) method. The data were analyzed, using SPSS 21 software and ANOVA test and P < 0.05 was regarded as significant. Results: Salivary LDH and CA125 levels were significantly higher in OSCC and OLP patients compared to the control group (P < 0.05). Salivary CRP levels were significantly higher in OSCC patients compared to OLP patients (P < 0.05). Besides, salivary CRP levels were higher in OLP subjects than in the control group, but the difference was not significant (P = 0.56). Conclusions: The identification of the salivary LDH, CA125, and CRP may provide a suitable non-invasive predictive tool for malignant changes. However, its use in clinical practice needs further research.

Background: The rs315952 (Ser133Ser) has been reported to influence the risk for immune-mediated as well as inflammatory diseases in many studies; however, the results remain inconsistent. The current meta-analysis was performed to give a more precise estimation for the relationship between this IL-1Ra missense variant and the risk of both types of diseases. Methods: Relevant publications were retrieved through a literature search in Web of Science, Medline, PubMed, Scopus, EMBASE, and Google scholar search engines, between 2000 and 2019. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to assess the strength of the association.95% confidence intervals (CIs) were calculated to assess the strength of the association. Results: Twenty-two studies, including 2622 cases with and 3854 controls were identified. The IL-1Ra Ser133Ser variant does not confer an increased overall risk for immune-mediated and inflammatory diseases. This variant was statistically associated with decreased risk of systemic lupus erythematosus (under allelic, codominant heterozygous, and dominant models) or ankylosing spondylitis (in allelic and recessive models)(OR

PURPOSE: To investigate if single-nucleotide polymorphisms (SNPs) in the NR1H2 gene encoding LXRβ contribute to the development of type-2 diabetes mellitus (T2DM) and whether genotypes of two NR1H2 polymorphisms, rs28514894 and rs2303044, are associated with laboratory characteristics of T2DM patients. METHOD: A total of 900 subjects (450 T2DM cases and 450 healthy subjects) of Iranian ancestry were genotyped for NR1H2 polymorphisms via ARMS-PCR and PCR-RFLP techniques. RESULT: Our findings showed a significant correlation between both polymorphisms and increased risk of T2DM. The haplotype analysis showed an association between the C A haplotype with enhanced risk of T2DM. In T2DM patients, the mean level of HbA1C and BUN significantly differed among carriers of CC and TT genotypes of the rs28514894 polymorphism (P = 0.05 and P

Converging evidence has recently established the significance of γ-aminobutyric acid neurotransmitter (GABA) system in the development of schizophrenia (SCZ). We aimed to determine the association of two markers of the GABAIn this case-control study, 190 patients with SCZ and 200 healthy controls were recruited from December 2018 to February 2020. Genotyping was done using the Tetra-ARMS-PCR technique.The C allele and genotypes of codominant CC vs.TT and CT vs.TT, dominant TT vs. TC + CC, recessive TT + TC vs. CC of rs1816072 polymorphism, as well as codominant CC vs. GG and recessive GG + GC vs. CC genetic models of rs12187676 polymorphism were significantly associated with SCZ susceptibility. Compared to the TC/GC model, we have found that the TC/CC combination significantly increased the risk of SCZ by 4.32 fold while the TT/GG combination conferred a protective role against SCZ. Haplotypes analysis indicated thatWe found that intronic

One of the most important modulators involved in controlling apoptosis induction and viability of cancerous cells is nucleostemin (NS). Some studies revealed that NS is also needed to maintain the proliferation of embryonic neural stem cells and early embryogenesis. This study was designed to better elucidate the association between NS depletion status and apoptosis induction of both MCF-7 and MDA-MB-468 cell lines. We examined the effects of NS-targeting siRNAs on the expression of NS in MCF-7 and MDA-MB-468 human breast cancer cell lines by the Real-time polymerase chain reaction method. In addition, we investigated the correlation between knockdown of NS and viability rates and apoptosis induction in MCF-7 and MDA-MB-468 cell lines using the MTT assay and annexin V/PI staining, respectively. The NS-targeting siRNAs inhibited the viability of the cells in a dose- and time-dependent manner and induced apoptosis after 48 h in the cells. Thus, consistent with previous articles, this protein can be one of the regulators related to the inhibition of apoptosis and the increased viability of tumor-initiating cells in human breast cancer cell lines as well as other cancers.

Objective: Schizophrenia (SCZ) is a common psychiatric disorder characterized by a complex mode of inheritance. Peroxisome proliferator-activated receptor-γ (PPARG) mainly regulates lipid and glucose metabolisms while it is constitutively expressed in rat primary microglial cultures. This preliminary study was aimed to investigate the relationship of two polymorphisms in the PPARG gene, rs1801282 C/G, and rs3856806 C/T, to the risk of SCZ in the southeast Iranian population. Method: A total of 300 participants (150 patients with SCZ and 150 healthy controls) were enrolled. Genotyping was done using the amplification refractory mutation system polymerase chain reaction (ARMS–PCR) technique. Computational analyses were carried out to predict the potential effects of the studied polymorphisms. Results: A significant link was found between genotypes of rs1801282 and SCZ susceptibility. The G allele of rs1801282 in CG and GG form of the codominant model increased the risk of SCZ by 2.49 and 2.64 folds, respectively. With regards to rs3856806, enhanced risk of SCZ was also observed under different inheritance models except for the overdominant model. Also, the T allele of rs3856806 enhanced the risk of SCZ by 3.19 fold. Computational analyses predicted that rs1801282 polymorphism might alter the secondary structure of PPARG-mRNA and protein function. At the same time, the other variant created the binding sites for some enhancer and silencer motifs. Conclusion: Our findings showed that PPARG rs1821282 and rs3856806 polymorphisms associate with SCZ susceptibility. Replication studies in different ethnicities with a larger population are needed to validate our findings.