Rs1800629 Polymorphism Research Articles

Association between Vitamin D Receptor Polymorphism and Susceptibility to Oral Lichen Planus and Oral Squamous Cell Carcinoma.

Oral squamous cell carcinomas (OSCC) comprise 90-95% of oral cancers. Early diagnosis improved the survival rate of OSCC patients to 80-90%. Oral lichen planus (OLP) is a chorionic inflammatory disease with malignancy potential. The vitamin D receptor (VDR) plays a critical role in the pathogenesis of oral cancer. This study aimed to determine the association between VDR rs7975232 (Apa I) polymorphism and potential susceptibility to OLP and OSCC risks. In this prospective case-control study, a total of 120 blood samples were obtained from OSCC patients (n=29), OLP (n=50), and controls (n=40). VDR rs7975232 polymorphism was studied using the Polymerase Chain Reaction Restriction Fragment Length Polymorphism (PCR-RFLP) method. Statistical analysis was performed with SPSS Version 23 software. Data were expressed as means ± standard deviation (SD). Age, sex, allelic frequency, and genotyping were compared using the chi-square test. A p-value of less than 0.05 was regarded as statistically significant. The disease risk was estimated by Odds ratio (OR) with a 95% confidence interval. A significant age difference was observed between the controls and the OSCC group (p=0.001). A significant difference was observed in Aa and aa genotypes compared with AA between OSCCs and controls. Moreover, dominant (p<0.001), additive (p<0.001), and allelic (p=0.001) models were different between groups. There was a positive association between rs7975232 VDR polymorphism and susceptibility to OSCC. More experimental evidence must reveal the possible association between rs7975232 and the risk of OLP in a larger cohort.

Association of the ESR1 (rs9340799), OLR1 (rs3736234), LIPC (rs2070895), VDR (rs2228570), and CETP (rs708272) Polymorphisms With Risk of Coronary Artery Disease in Iranian Patients.

Coronary artery disease (CAD) is a devastating illness and a leading cause of death worldwide, primarily caused by atherosclerosis resulting from a genetic-environmental interaction. This study aimed to investigate the relationship between the ESR1 (rs9340799), OLR1 (rs3736234), LIPC (rs2070895), VDR (rs2228570), and CETP (rs708272) polymorphisms, lipid profile parameters, and CAD risk in a southeast Iranian population. A total of 400 subjects (200 CAD patients with hyperlipidemia and 200 healthy controls) were enrolled in this case-control study. Five selected polymorphisms were genotyped using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. For all single nucleotide polymorphisms (SNPs), the population under study was in the Hardy-Weinberg equilibrium. The T-risk allele frequency of rs2228570 was associated with an increased risk of CAD. The TT and CT genotypes of rs2228570 had also been associated with the risk of CAD. Additionally, the TT genotype was associated with higher serum low-density lipoprotein cholesterol (LDL-c) and high-density lipoprotein cholesterol (HDL-c) levels. The GG genotype of the rs3736234 was associated with higher body mass index (BMI) and triglyceride (TG) levels, and the AA genotype of the rs708272 was associated with higher HDL-c levels. Based on these findings, we propose that the VDR (rs2228570) polymorphism was associated with serum HDL-c and LDL-c levels and may serve as potential risk factors for CAD within the Iranian population. Moreover, rs3736234 and rs708272 influence the concentrations of TG and HDL-c, respectively. These findings provided insights into the complex interplay between genetic variations, cardiovascular risk, and lipid metabolism.

Association of the CXCL12 rs1801157 Polymorphism with Breast Cancer Risk: A Meta-Analysis.

Studies on the CXCL12 rs1801157 polymorphism show that this polymorphism is involved in development of breast cancer, but its specific relationships or effects are not consistent. The purpose of this meta-analysis was to investigate the association between CXCL12 rs1801157 polymorphism and susceptibility to breast cancer. PubMed, Scopus, Embase, the Cochrane Library, Web of Science, and CNKI were searched for eligible studies through February 01, 2023. A total of ten studies with 2093 cases and 2302 controls were included in this meta-analysis. Overall, there is a significant association between CXCL12 rs1801157 polymorphism and risk of breast cancer under the homozygote genetic model (AA vs. GG, OR= 1.350, 95% CI: 1.050-1.734, p= 0.019). Stratified by ethnicity showed a significant association in Caucasian women, but not among Asian and mixed populations. This meta-analysis confirms that CXCL12 rs1801157 polymorphism is related to breast cancer risk, especially among Caucasian women. However, well-designed large-scale studies are required to further evaluate the results.

The Influence of Foxp3 Treg Cell Gene Polymorphism (rs3761548) on FoxP3 Gene Expression in Patients with Chronic Hepatitis B Virus Infection

: Immune responses are pivotal in hepatitis B virus (HBV) infection, where Regulatory T cells (Treg) can contribute to sustaining the infection by suppressing immune responses. Forkhead box P3 (FoxP3) is the central regulator of Treg cells. In this case-control study, we investigated the role of FoxP3 -3279 (rs3761548) C/A polymorphism in the context of HBV infection. The study encompassed 140 healthy individuals as the control group and 70 individuals with chronic hepatitis B virus (CHBV) as the case group. The rs3761548 polymorphism was analyzed using the restriction fragment length polymorphism-PCR (PCR-RFLP) method. Furthermore, we evaluated FoxP3 gene expression in both HBV-positive and control groups using Real-Time PCR. The results revealed that the frequency of the AA genotype in the case and control groups was 52.9% and 44.3%, respectively, yielding an odds ratio (OR) of 1.411 with a 95% confidence interval (CI) ranging from 0.793 to 2.509. However, this difference did not achieve statistical significance (P = 0.242). Notably, the AC genotype was significantly more prevalent in the control group compared to the case group (P = 0.000). Moreover, FoxP3 gene expression was significantly higher in CHBV infection cases compared to the control group (P = 0.000). These findings suggest that the observed polymorphism may play a role in the pathogenesis and persistence of HBV infection. Nevertheless, further research is warranted to comprehensively investigate this phenomenon.

Clinical and immunological manifestations of gene polymorphisms cytokines in controlled and uncontrolled bronchial asthma

Introduction. Bronchial asthma (BA) is a multifactorial disease, but its pathogenesis in children is based on atopic inflammation, which is what modern therapies are aimed at combating; less attention is paid to factors of nonspecific inflammation, but they also affect the controllability of the pathological process. The regulation of any inflammation is carried out primarily by cytokines, therefore this work is devoted to the study of polymorphisms of genes for cytokines of nonspecific inflammation.Aim. To explore the association between cytokine gene polymorphisms and clinical immunological features of uncontrolled asthma.Materials and methods. We examined 167 children with asthma, who were divided into groups with and without complete disease control, according to the standard of clinical guidelines for asthma. Additionally, mononucleotide substitutions in the cytokine genes were determined: IL4-C589T (rs2243250), IL6-C174G (rs1800795), IL10-G1082A (rs1800896), IlL10-C592A (rs1800872), IL10- C819T (rs1800871), IL12B-A118 8C (rs3212227) , TNFα- G308A (rs1800629), serum cytokine levels: IL4, 5, 6, 7, 8, 9, 10, 18 and TNFα; standard immunogram indicators: subpopulations of lymphocytes, neutrophil phagocytosis and levels of Ig A, M, G, E.Results and discussion. It was determined that each of the clinically significant mononucleotide substitutions forms a unique cytokine and immune profile that is phenotypically realized in the clinical manifestations of the disease. It has been proven that mononucleotide substitutions IL10-C592A, TNFα- G308A contribute to better control with a tendency to milder asthma; children with the IL6-C174G polymorphism experience more severe disease with a tendency toward decreased control. In addition, mononucleotide substitutions in the genes of signaling molecules of the immune system modify atopic inflammation, weakening (IL10-C592A, TNFα- G308A) or enhancing (IL6-C174G) it, which leads to a change (decrease or increase) in the dose of TGCS, respectively.Conclusion. Thus, determination of IL6-C174G (rs1800795), IL10-C592A (rs1800872), TNFα- G308A (rs1800629) polymorphisms in children with ВА helps to identify a risk group for severe and uncontrolled disease, as well as to personalize therapy.

Genetic variation of FcγRIIa induces higher uptake of Leishmania infantum and modulates cytokine production by adherent mononuclear cells in vitro.

Single nucleotide variations (SNVs) are specific genetic variations that commonly occur in a population and often do not manifest phenotypically. However, depending on their location and the type of nucleotide exchanged, an SNV can alter or inhibit the function of the gene in which it occurs. Immunoglobulin G (IgG) receptor genes have exhibited several polymorphisms, including rs1801274, which is found in the FcgRIIa gene. The replacement of A with T results in a Histidine (H) to Arginine (R) substitution, altering the affinity of the IgG receptor for IgG subtypes and C-reactive protein (CRP). In this study, we analyzed rs1801274 and its functional implications concerning L. Infantum uptake and cytokine production. We genotyped 201 individuals from an endemic area for visceral leishmaniasis to assess the presence of rs1801274 using Taqman probes for a candidate gene study. Additionally, we included seventy individuals from a non-endemic area for a functional study. Subsequently, we isolated and cultivated one-week adherent mononuclear cells (AMCs) derived from the peripheral blood of participants residing in the non-endemic region in the presence of L. infantum promastigotes, with and without antigen-specific IgG and/or CRP. We analyzed the rate of phagocytosis and the production of nitric oxide (NO), tumor necrosis factor (TNF)-a, interleukin (IL)-10, IL-12 p70, IL-1b, IL- 6, and IL-8 in the culture supernatants. In participants from the endemic region, the A/G (H/R isoform) heterozygous genotype was significantly associated with susceptibility to the disease. Furthermore, SNVs induced a change in the phagocytosis rate in an opsonin-dependent manner. Opsonization with IgG increased the production of IL-10, TNF-a, and IL-6 in AMCs with the H/R isoform, followed by a decrease in NO production. The results presented here suggest that the rs1801274 polymorphism is linked to a higher susceptibility to visceral leishmaniasis.

Association between C10X polymorphism in the CARD8 gene and inflammatory markers in young healthy individuals in the LBA study

BackgroundThe Caspase activation and recruitment domain 8 (CARD8) protein is a component of innate immunity as a negative regulator of NF- ĸB, and has been associated with regulation of proteins involved in inflammation. Expression of CARD8 mRNA and protein has been identified in human atherosclerotic lesions, and the truncated T30A variant (rs2043211) of CARD8 has been associated with lower C-reactive (CRP) and MCP-1 levels in myocardial infarction patients. The present study examines the role of a genetic variation in the CARD8 gene in relation to a selection of markers of inflammation.MethodsIn a cross-sectional study of young healthy individuals (18.0–25.9 yrs, n = 744) the association between the rs2043211 variant in the CARD8 gene and protein markers of inflammation was assessed. Genotyping of the CARD8 C10X (rs2043211) polymorphism was performed with TaqMan real time PCR on DNA from blood samples. Protein levels were studied via Olink inflammation panel (https://olink.com/). Using linear models, we analyzed men and two groups of women with and without estrogen containing contraceptives separately, due to previous findings indicating differences between estrogen users and non-estrogen using women. Genotypes were analyzed by additive, recessive and dominant models.ResultsThe minor (A) allele of the rs2043211 polymorphism in the CARD8 gene was associated with lower levels of CCL20 and IL-6 in men (CCL20, Additive model: p = 0.023; Dominant model: p = 0.016. IL-6, Additive model: p = 0.042; Dominant model: p = 0.039). The associations remained significant also after adjustment for age and potential intermediate variables.ConclusionsOur data indicate that CARD8 may be involved in the regulation of CCL20 and IL-6 in men. No such association was observed in women.These findings strengthen and support previous in vitro data on IL-6 and CCL20 and highlight the importance of CARD8 as a factor in the regulation of inflammatory proteins. The reason to the difference between sexes is however not clear, and the influence of estrogen as a possible factor important for the inflammatory response needs to be further explored.

Association of IL-4 (− 590 C/T) and IL-6 (− 174 G/C) gene polymorphism in South Indian CKD patients

AimThe present study was undertaken to examine the role of IL-4 (− 590 C/T) (rs2243250) and IL-6 (− 174G/C) (rs1800795) polymorphism and the serum levels of IL-4 and IL-6 in chronic kidney disease (CKD).MethodsThe IL-4 (− 590C/T) and IL-6 (− 174 G/C) polymorphisms were genotyped in 132 CKD patients and 161 controls using PCR–RFLP. Serum IL-4 and IL-6 quantifications were performed by ELISA.ResultsSignificant susceptible associations of CT genotype (OR = 4.56; p < 1.84 × 10–9) and T allele (OR = 1.56; p < 0.010) of IL-4 (− 590C/T) and CC genotype (OR = 2.63; p < 0.032) of IL-6 (− 174G/C) were observed for CKD. The CC genotype (OR = 0.27; p < 9.314 × 10–7) and C allele (OR = 0.63; p < 0.010) of IL-4 (− 590 C/T) revealed strong protective associations. Five-fold increased levels were observed for both IL-6 (p < 0.0001) and IL-4 (p < 0.0043) cytokines in CKD patients than the controls. The IL-4 serum levels (pg/ml) increased significantly in patients with CT and TT genotypes of IL-4 (− 590 C/T) than the controls (6.18 ± 1.80 vs. 3.33 ± 0.48 and 6.14 ± 1.96 vs. 3.21 ± 0.56 respectively). For IL-6 (− 174 G/C) polymorphism, the patients with CC genotype (6.50 ± 1.30 vs. 3.49 ± 1.39) revealed with higher IL-6 serum levels followed by GC genotype (5.00 ± 1.91 vs. 4.01 ± 1.74).ConclusionThe genotypes of IL-4 (590 C/T) and IL-6 (174 G/C) polymorphisms contribute differential susceptibility in south Indian CKD patients. A fivefold increased serum levels of IL-4 (anti-inflammatory) and IL-6 (pro- and anti-inflammatory) cytokines were documented in CKD patients. There observed an opposite trend in disease association for these two cytokines and associated SNPs with CKD in south India.

Rs1800629 polymorphism in TNF-alpha is associated with the susceptibility and initial short-term glucocorticoids efficacy in myasthenia gravis patients

Tumor necrosis factor-alpha (TNF-α) is a potent pro-inflammatory agent involved in various autoimmune and inflammatory diseases including myasthenia gravis (MG). In this study, we enrolled 409 adult MG patients and 487 healthy individuals to investigate the association between TNF-α polymorphism and MG. We found the rs1800629 A allele frequency was significantly higher in the MG group than in the control group. Subgroup analysis revealed that the A allele frequencies were significantly higher in the early-onset subgroup, non-thymoma subgroup, ocular-onset subgroup, and mild severity subgroup than in the control group. To minimize the interactions between clinical features, we used a comprehensive classification and found that the rs1800629 A allele frequency was significantly higher in the non-thymoma AChR-Ab negative subgroup than in the control group. In the analysis of initial short-term glucocorticoids (GC) efficacy in the treatment-naive patients, the rs1800629 A allele frequency was significantly higher in the unresponsive subgroup than in the responsive group and the control group. Logistic regression demonstrated the rs1800629 genotypes in the dominant model and disease duration prior to GC treatment independently contributed to initial short-term GC efficacy. In conclusion, our study revealed that in Chinese adult MG patients, rs1800629 polymorphism in TNF-α was associated with the susceptibility of MG and might indicate the initial short-term GC efficacy.

Interleukin-10 Gene Polymorphisms Modulate the Risk of Infertility in Chlamydia trachomatis Positive Kurdish Women in Erbil Province.

There is evident inter-individual variability in women's responses to Chlamydial infections and reproductive tract problems. Women's genetic variations within the Interleukin-10 (IL-10) gene have been linked to variances in response to Chlamydia trachomatis infection. This study was aimed to demonstrate the profound association of IL-10 with infertility and demonstrate the role of IL-10 (-592 C/A rs1800872) and (-1082 A>G rs1800896) single nucleotide polymorphism (SNPs) gene in the susceptibility and severity of a C. trachomatis infection. In this evaluation study, serum IL-10 concentration was measured in 134 women diagnosed with infertility and 50 healthy volunteers by enzyme-linked immunosorbent assay (ELISA). The tetra-amplification refractory mutation system-PCR (T-ARMS-PCR) analysis was performed to detect the genotyping of the rs1800872 and rs1800896 SNPs genes. Both female groups were positive for anti-chlamydial IgM antibody, but the intensity of response differed between cases. At the same time, the incidence of genital C. trachomatis by PCR was 46.2% in infertile women. The serum concentration of IL10 was lower in infertile women than healthy participants and higher in infertile C. trachomatis -positive women compared to infertile C. trachomatis-negative in all groups except endometriosis (Endo) infertility. In rs1800872, the CA genotype and C allele are associated with an increased risk for infertility, except in polycystic ovarian syndrome (PCOS), which is an A allele. In the case of rs1800896, the AG genotype and G allele show a greater risk for infertility. Our results confirmed that rs1800872 and rs1800896 gene polymorphisms were associated with an increased risk of C. trachomatis infection.

Association of Interleukin 23 Receptor Polymorphisms with Predisposition to Rheumatoid Arthritis: An Updated Meta and Trial Sequential Analysis.

The etiology of Rheumatoid Arthritis (RA) development remained unclear, and several factors, such as environmental, genetic, and immune system dysfunction, have been attributed to the susceptibility. Interleukin 23 (IL23) induces expansion of the Th17 cells through the IL-23 receptor (IL-23R) and believes in playing a major role in RA pathogenesis. Various genetic mutants in the IL23R gene (rs10489629, rs1343151, rs2201841, rs7517847, rs1004819, rs10889677, rs11209026, rs7530511) have been associated with the susceptibility RA, but results are contradictories. We performed a meta-analysis to establish the association of IL23R polymorphisms with susceptibility RA. For the meta-analysis, a detailed search of databases like Google Scholar, PubMed, Scopus, Web of Science, and Science Direct was conducted, and data were extracted from the included reports. The meta-analysis was performed by the Comprehensive Meta-Analysis v3 software. A significant association of IL-23R rs11209026 (AA vs. GG: Odds ratio = 2.250, p-value = 0.01; AA vs. GG+GA: Odds ratio = 2.271, p-value = 0.01), rs1343151 (A vs. G: Odds ratio = 1.091, p-value = 0.001; AA vs. GG: Odds ratio = 1.209, p-value = 0.001; GA vs. GG: Odds ratio = 1.116, p-value = 0.004; AA+GA vs. GG: Odds ratio = 1.135, p-value = 0.000; AA vs. GG+GA: Odds ratio = 1.144, p-value = 0.012) and rs10889677 (CA vs. CC: Odds ratio = 1.375, p-value = 0.041) polymorphisms were observed with increased susceptibility for the development of RA. In contrast, IL-23R rs10489629 (G vs. A: odds ratio = 0.901, p-value = 0.047, GG vs. AA: Odds ratio = 0.763, p-value = 0.022, GG vs. AA+AG: Odds ratio = 0.852, p-value = 0.00) and IL23R rs2201841 (CC vs. TT+TC: Odds ratio = 0.826, p-value = 0.026) variants were linked with protection against the development of RA. In addition, the trial sequential analysis revealed the inclusion of a sufficient number of studies in the present meta-analysis, and no further additional studies are required. IL-23R variants are associated with genetic susceptibility or resistance against the development of RA.

Assessment of vitamin D status and vitamin D receptor polymorphism in Egyptian children with Type 1 diabetes

BackgroundThe endocrine system of vitamin D regulates about 3 % of the human genome. Vitamin D exerts its actions via a nuclear vitamin D receptor (VDR) which in turn regulates insulin secretion from the pancreas. VDR gene polymorphisms could have an impact on how autoimmune illnesses like Type 1 diabetes mellitus (T1DM) develop. We aimed to explore the relation between T1DM and VDR gene polymorphisms in Egyptian diabetic children and their siblings. MethodsEnzyme-linked immunosorbent assay was used to quantify 25(OH) vitamin D in the study, which had 179 participants (group 1 = 85 diabetic children, group 2 = 57 siblings of the patients, group 3 = 37 healthy controls). Real-time polymerase chain reaction (RT-PCR) was used to analyze the genotyping of the VDR gene polymorphisms Apa-I (rs7975232), Fok-I (rs2228570), Taq-I (rs731236) and Bsm-I (rs1544410). ResultsThe mean serum 25(OH) vitamin D levels was significantly lower in T1DM patients (14.99 ± 9.24 ng/mL) and siblings (16.31 ± 7.96 ng/mL) compared to the controls (19.48 ± 7.42 ng/mL) (p = 0.031). The genotypes distribution of VDR Fok-I (rs2228570) and Bsm-I (rs1544410) polymorphisms showed a significant difference between patients, siblings and controls as P = 0.001 and 0.026 respectively, while the VDR ApaI and TaqI polymorphisms did not. FokI-A allele frequency was significantly lower in T1DM patients and siblings than in controls (p < 0.001). FokI-AA genotype had a statistical significant higher vitamin D levels than other genotypes with p value of 0.024. ConclusionOur study found that T1DM children had lower vitamin D levels, and VDR FokI and BsmI gene polymorphisms were linked to T1DM in Egyptian children. Determining the relationship between vitamin D levels and VDR polymorphisms, particularly the FokI and other genetic analyses may aid in the early diagnosis of T1DM in children.

The effect of BsmI (rs1544410) single nucleotide polymorphism of vitamin D receptor (VDR) on insulin resistance in healthy children and adolescents: a cross-sectional study

The increasing prevalence of metabolic syndrome, type 2 diabetes, and insulin resistance are driven by complex interactions between genetic and environmental factors. One of the single nucleotide polymorphisms (SNPs) in the VDR gene associated with vitamin D levels is the rs1544410 SNP. This study examined the association of the rs1544410 polymorphism with insulin resistance to predict and screen for possible association with type 2 diabetes and target these individuals for appropriate treatment. This cross-sectional study examined 270 children and adolescents aged 9 to 18 years. Anthropometric and biochemical parameters were determined. Insulin resistance/sensitivity was determined using Quicki, HOMA-IR, MacAuley, Revised MacAuley, Bennetts, FIRI and insulin-to-glucose ratio. The BsmI single nucleotide polymorphism (rs1544410) was determined using the PCR-RFLP method after extracting DNA from peripheral blood collected from fasted subjects, and the resulting data were analyzed using SPSS software and statistical tests.According to linear regression analysis, a significant difference was found in Insulin to glucose ratio, FIRI and HOMA-IR indices between Bb / bb and BB genotypes and it was observed that individuals with BB genotype polymorphism of BsmI vitamin D receptor gene, after Adjustment of age, sex, BMI are at greater risk for insulin resistance and type 2 diabetes.This study demonstrated that those with the BB genotype of VDR BsmI polymorphism were at higher risk for insulin resistance and developing type 2 DM.

Role of the IL8 rs4073 polymorphism in central nervous system toxicity in patients receiving multidrug-resistant tuberculosis treatment.

To determine the role of the IL8 rs4073 polymorphism in predicting the risk of central nervous system (CNS) toxicity in patients receiving standard pharmacological treatment for multidrug-resistant tuberculosis (MDR-TB). A cohort of 85 consenting MDR-TB patients receiving treatment with second-line antituberculosis drugs had their blood samples amplified for the IL8 (rs4073) gene and genotyped. All patients were clinically screened for evidence of treatment toxicity and categorized accordingly. Crude and adjusted associations were assessed. The chief complaints fell into the following categories: CNS toxicity; gastrointestinal toxicity; skin toxicity; and eye and ear toxicities. Symptoms of gastrointestinal toxicity were reported by 59% of the patients, and symptoms of CNS toxicity were reported by 42.7%. With regard to the genotypes of IL8 (rs4073), the following were identified: AA, in 64 of the study participants; AT, in 7; and TT, in 11. A significant association was found between the dominant model of inheritance and CNS toxicity for the crude model (p = 0.024; OR = 3.57; 95% CI, 1.18-10.76) and the adjusted model (p = 0.031; OR = 3.92; 95% CI, 1.13-13.58). The AT+TT genotype of IL8 (rs4073) showed a 3.92 times increased risk of CNS toxicity when compared with the AA genotype. The AT+TT genotype has a tendency to be associated with an increased risk of adverse clinical features during MDR-TB treatment.

The Concentrations of Interleukin-6, Insulin, and Glucagon in the Context of Obesity and Type 2 Diabetes and Single Nucleotide Polymorphisms in IL6 and INS Genes.

Obesity and diabetes are a problem of modern medicine. Although the environmental factors contributing to the development of these diseases are widely known, research into genetic factors is still ongoing. At the same time, the role of inflammation in the pathophysiology of obesity and diabetes is increasingly emphasized. Therefore, the purpose of this study was to investigate the influence of two selected polymorphisms (rs1800795 and rs3842729) on the development of obesity and type 2 diabetes. In this study, 118 participants were examined, including a control group (nonobese and nondiabetic group), an obese group, and a diabetic group. Genotype analysis was performed using the PCR-RFLP method. It has been shown that in patients with the G/G genotype within the rs1800795 polymorphism (IL6), the chance of developing type 2 diabetes is several times lower compared to patients with the G/C and C/C genotypes. However, the rs3842729 polymorphism (INS) does not directly affect the risk of obesity or type 2 diabetes (T2D), although elevated insulin concentrations have been observed in obese and diabetic patients. These results confirm the impact of the rs1800795 polymorphism on the development of diabetes; however, this relationship is more complex and requires further research on other factors.

Genetic Variant rs1800795 (G&gt;C) in the Interleukin 6 (IL6) Gene and Susceptibility to Coronary Artery Diseases, Type 2 Diabetes, Acute Pancreatitis, Rheumatoid Arthritis, and Bronchial Asthma in Asians: A Comprehensive Meta-Analysis Based on 30154 Subjects

Numerous studies conducted globally have explored the possible connection between the IL6 gene variant rs1800795 (G&gt;C) and the risk of several diseases. Nonetheless, the correlation specifically within the Asian population remains inconclusive. Hence, this extensive meta-analysis aims to establish a conclusive correlation between the rs1800795 variant and susceptibility to various diseases among Asians. Fifty eligible articles were chosen from Google Scholar, PubMed, Web of Science, and PMC based on specific inclusion criteria. Odds ratios alongside 95% confidence intervals (CI) were utilized. Additionally, subgroup analysis, publication bias, and sensitivity evaluation were conducted. The analysis, of 14,737 cases and 15,417 controls, showed a notable correlation between the rs1800795 (G&gt;C) single-nucleotide polymorphism and the overall disease susceptibility to all models (p-value &lt;2.5E-05). The ethnicity-specific stratified findings indicated that the C-allele of (C vs. G) model of −174G/C polymorphism expressively elevated the overall disease susceptibility in both East and South Asian populations. The disease-based stratified analyses suggested that the C variant of rs1800795 was related to coronary artery diseases and bronchial asthma (under all models), type 2 diabetes (CG vs. GG), acute pancreatitis (AP) (C vs. G; and CC vs. GG), rheumatoid arthritis (CC+CG vs. GG; CC vs. CG+GG; and C vs. G), and AP (C or CC vs. G or GG respectively). IL6 rs1800795 polymorphism is a highly significant disease risk factor in Asians and can potentially serve as a prognostic biomarker for future disease screening and evaluation.

Toll-like receptor 7 and tumor necrosis factor alpha polymorphisms in Egyptian patients with autoimmune thyroid diseases

ABSTRACT Hashimoto’s thyroiditis (HT) and Graves’ disease (GD) susceptibility depends on a complex interaction between environmental and genetic factors. Genes for tumor necrosis factor alpha (TNF-α) and toll-like receptors (TLRs) have been incorporated into the pathophysiology of autoimmune disorders. Our aim is to assess the association between TLR7 (rs179009) and TNF-α (rs1800629) polymorphisms and susceptibility to autoimmune thyroid disorders. One-hundred ninety-nine individuals, divided into 68 HT patients in group I, 57 GD patients in group II, and 74 age- and gender-matched healthy subjects in group III, underwent laboratory investigations, including the detection of TLR7 and TNF-α polymorphisms using real-time PCR technique. TLR7 (rs179009) genotypes, A/G and G/G, were significantly more prevalent in HT patients (group I) compared to normal controls. Meanwhile, TNF-α (rs1800629) genotypes in GD patients (group II) showed a six fold increase in the risk of the disease in the G/A and A/A genotypes. Our findings propose the fact that the polymorphisms of TLR7 (rs179009) play a role in the susceptibility and the development of Hashimoto’s thyroiditis, whereas TNF-α (rs1800629) polymorphisms play a role in the susceptibility and development of Graves’ disease.

Polymorphism of Rs1800629 Gene of TNF-Α in the Pathogenesis of Acne Vulgaris

Background: The study of the association between acne vulgaris and the TNF-gene polymorphism rs1800629 in the Uzbek population is discussed in this article. Methodology: The research was conducted on 165 patients with various clinical forms of acne vulgaris and 161 healthy donors. Findings: During this research, allele frequencies and genotypes of rs1800629 polymorphism of TNF-α gene were found with statistically significant differences between the control group and subgroups of patients with acne vulgaris. As a result of the investigation, it was discovered that heterozygous genotype G/A should be a genetic marker for an increased risk of acne development, whereas homozygous genotype G/G should be a marker for a reduced risk of acne formation.

Correlation between rs1800871, rs1800872 and rs1800896 Polymorphisms at IL-10 Gene and Lung Cancer Risk.

The tumorigenesis of lung cancer is complicated, and genetic factor may have the role in the malignant transformation of lung cells. IL-10 gene polymorphisms have been evaluated for their potential roles in lung cancer. However, those studies results are controversial. To clarify the effects of IL-10 rs1800871, rs1800872 and rs1800896 polymorphisms on the risk of lung cancer, a meta-analysis was performed with eligible individual studies. Eligible publications were gathered by retrieving PubMed, Web of Science, Embase, Wan Fang, and CNKI up to September 01, 2023. The pooled odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of such association. A total of 23 studies, including 5950 patients with lung cancer and 8046 healthy controls, were identified in this meta-analysis. Overall, there was no a significant association between the rs1800871, rs1800872 and rs1800896 polymorphisms at IL-10 gene and susceptibility to lung cancer globally when all studies in the pooled into this meta-analysis. Stratified analysis by ethnicity showed that rs1800872 polymorphism was associated with lung cancer among Asians and Caucasians. However, no significant association was identified between the rs1800871 and rs1800896 and risk of lung cancer. Pooled data showed that IL-10 rs1800871, rs1800872 and rs1800896 polymorphisms were not associated with lung cancer globally. Future well-designed large case-control studies with different ethnicities are recommended.

Association of IL13 polymorphisms with susceptibility to myocardial infarction: A case-control study in Chinese population.

Inflammatory cytokines play a major role in the pathogenesis of myocardial infarction (MI). Although information on the importance of interleukin 13 (IL13) in human MI is limited, it has been well documented in the mouse model. Genetic variation in the IL13 gene has been associated with the structure and expression of the IL13. In the present study, we hypothesized that IL13 common genetic variants would be associated with a predisposition to the development of MI. The present study enrolled 305 MI patients and 310 matched healthy controls. Common genetic polymorphisms in the IL13 gene (rs20541, rs1881457, and rs1800925) were genotyped using the TaqMan SNP genotyping method. Plasma levels of IL13 were measured using an enzyme-linked immunosorbent assay (ELISA). In MI patients, minor alleles of the IL13 rs1881457 and rs1800925 polymorphisms were less common than in healthy controls [rs1881457: AC (P = 0.004, OR = 0.61), C (P = 0.001, OR = 0.66); rs1800925: CT (P = 0.006, OR = 0.59)]. Further haplotype analysis of three studied SNPs revealed a significant association with predisposition to MI. Interestingly, IL13 rs1881457 and rs1800925 were linked to plasma levels of IL13: the reference genotype had higher levels, heterozygotes were intermediate, and the alternate genotype had the lowest levels. In the Chinese population, IL13 (rs1881457 and rs180092) variants are associated with different plasma IL13 levels and offer protection against MI development. However, additional research is required to validate our findings in different populations, including descent samples.