Interleukin-10 Gene Polymorphisms Research Articles

Primer and Probe Designing to Detect SNP rs 4073 in Interleukin-8 Gene in Iraqi Patients with Bronchial Asthma

Asthma is one of the most prevalent non-communicable illnesses, and it has a significant influence on the quality of life for many people. Asthma is now thought to be a multifaceted condition, with interactions between genetic susceptibility, host factors, and environmental exposures increasingly being blamed for its pathogenesis. In respiratory illness, interleukin-8 plays a critical function due to promoting phagocytosis and inducing angiogenesis. Also, identification and finding out the effect of these SNPs and how it can be dangerously related or contribute to a Bronchial Asthma disease. However, the available methods for detecting interleukin-8 gene polymorphism are direct and quantitative using Poly Chain Reaction (RT-PCR) in real time. Whole blood was isolated from 100 patients with asthma and 50 healthy individuals. The results of polymorphism in single nucleotides showed an essential role in the development of asthma and that the presence of these SNPs has a role in increasing the susceptibility of individuals to asthma, as the variation in the TT genotype at the site followed by the AT genotype at the same site shows high-risk damage.

Interleukin 10 -1082 G/A Gene Polymorphism and Susceptibility to Bronchial Asthma in Children: A Single-Center Study.

Interleukin-10 (IL-10) is the key regulator of immune responses preventing the undesirable exaggerated ones. Genetic variation in the promoter region of IL-10 may influence its serum level and contribute to susceptibility to bronchial asthma in children. This is a case-control study including 100 patients and 100 healthy control children who had undergone skin prick test, estimation of total IgE and serum level of IL-10 by enzyme-linked immunosorbent assay, and polymerase chain reaction-restriction fragment length polymorphism for IL-10 gene polymorphism. A significant association between IL-10 polymorphism and susceptibility to pediatric asthma was found. AA genotype represented (66%) of the patient group compared to (6%) only of the control group, while AG genotype was detected in 20% of patients and 4% of control. In contrast, wild genotype GG was found in 14% of patients and 90% of control with a highly statistically significant difference among both groups (P < 0.001). The serum level of IL-10 was significantly elevated in the GG genotype in comparison to other genotypes (P < 0.001), and it was negatively correlated with the severity of asthma among the studied pediatric asthmatic group (P < 0.001). In conclusion, IL-10 polymorphism may play an important role in the development of bronchial asthma in children.

Association of tumor necrosis factor-α (−308 G/A) and interleukin-10 (−1082 A/G) gene polymorphisms with polycystic ovary syndrome in Iraqi women

BackgroundThe etiologic factors of polycystic ovary syndrome (PCOS) are not well understood, however, several studies reported that genetics and environmental factors might be involved in the appearance of PCOS. Therefore understanding some molecular pathways can provide more information about PCOS. The imbalance of pro-inflammatory and anti-inflammatory cytokines could be associated with its pathophysiology. There are huge numbers of polymorphisms within cytokine genes that may affect their production and bring in the women more susceptible for PCOS. The aim of the present study was for evaluation the correlation of single nucleotide polymorphism (−308 G/A) in tumor necrosis factor-alpha (TNF-α) gene and (−1082 A/G) in interleukin-10 (IL-10) gene with PCOS. MethodsPatients group included 80 women who had a history of PCOS diagnosed using transvaginal or transabdominal ultrasound and don't have any of the inherited disorders such as androgen-secreting neoplasms, congenital adrenal hyperplasia, thyroid dysfunction, and hyperprolactinemia with a mean age (27.23 year). The control group included 70 women with a mean age (26.89 year). Levels of serum IL-10 and TNF-α in woman with PCOS and healthy control have been measured by Enzyme linked immunosorbent assay (ELISA). Single nucleotide polymorphism (SNP) in TNF-α (−308 G/A) and IL-10 (−1082 A/G) genes and the frequency of mutations in patient and control group were evaluated using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). ResultsShowed that serum IL-10 concentration was significantly decreased (p < 0.01) while TNF-α level was significantly increased (p < 0.01) in patients compared to control group. While the genotype prevalence of TNF-α (−308 G/A) and IL-10 (−1082 A/G) and the allele frequency show non-significant difference (p > 0.05) between women with PCOS and healthy controls. ConclusionIt is concluded that the level of TNF–α and IL-10 could be considered as possible biomarkers for PCOS while polymorphisms in IL-10 gene and TNF-α gene are not considered as risk factors of PCOS in Iraqi women, this suggests that further studies on other loci or other cytokines are required.

Вплив поліморфізму гена інтерлейкіну-10 на перебіг муковісцидозу в дітей

Актуальність. Муковісцидоз (МВ) — генетичне захворювання, перебіг якого залежить не тільки від мутації гена трансмембранного регулятора МВ, але й від інших генів-модифікаторів. Ген інтерлейкіну-10 (ІЛ-10) входить до переліку таких модифікуючих факторів. Мета. Удосконалення медичної допомоги хворим на МВ шляхом уточнення прогнозу перебігу на підставі визначення патогенетичної ролі поліморфізму гена-модифікатора запалення ІЛ-10. Матеріали та методи. 42 дитини з діагнозом МВ обстежені за стандартною методикою. Визначення поліморфізму G1082A гена IL-10 проводили за допомогою полімеразної ланцюгової реакції в реальному часі. ДНК виділяли з клітин букального епітелію. Результати. У групі дітей, хворих на МВ, із мутацією G1082A гена IL-10 встановлена більш рання маніфестація при кишкових симптомах і більш пізня — при легеневих ознаках, тяжкий перебіг захворювання (зниження об’єму форсованого видоху за 1 секунду — 70,0 (65,0; 72,0) %), ранній розвиток бронхоектазів легенів (72 %) та пневмофіброзу (95,4 %), цирозу печінки (36,4 %), переважання серед респіраторних збудників Pseudomonas aeruginosa (59,1 %) у бактеріальному пейзажі мокротиння, зміни імунного статусу (підвищення циркулюючих імунних комплексів — 8,65 (7,6; 10,55) од. та зниження індексу активності нейтрофілів спонтанного — 0,31 (0,24; 0,78) од. Висновки. Охарактеризовано фенотип МВ, який асоційований з мутацією гена IL-10 G1082A.

Polymorphisms in the interleukin 4 promoter -589C/T gene and the risk of asthma: a systematic review and meta-analysis.

BackgroundTo identify the association between polymorphisms in the interleukin 4 (IL-4) promoter -589C/T gene and the risk of asthma.MethodsThe databases of PubMed, Embase, Cochrane Library, China National Knowledge Infrastructure (CNKI), Wanfang, Chongqing VIP (CQVIP), and Chinese Biomedical Literature (CBM) were searched and appropriate journal articles on the association between polymorphisms in the IL-4 promoter -589C/T gene and the risk of asthma were retrieved from establishment of the database to April 2021. All relevant randomized controlled trials (RCTs) were included, to the exclusion of duplicate publications, studies with no whole composition, imperfect information or inability to extract data, animal experiments and reviews, and systematic reviews. The software Review manager 5.3 was used to analyze the data.ResultsLiterature search led to retrieving of 16 publications containing 3181 cases and 3786 controls. The results show that CT, CC, and T gene polymorphisms were risk factors for asthma [odds ratio (OR) =1.05, 95% confidence interval (CI): 0.89–1.24; OR =1.04, 95% CI: 0.85–1.27; OR =1.98, 95% CI: 1.54–2.53]. Ethnic subgroup analysis showed that genotype CT was associated with the risk of asthma in the Asian population (OR =1.75, 95% CI: 1.01–3.05).DiscussionThrough the study of IL-4 (C-590T) gene polymorphism, it was found that CT, TT, and T gene polymorphism were risk factors for asthma, and the results suggested that this locus polymorphism was related to the risk of asthma. The results of subgroup analysis showed that CC and T gene polymorphisms were risk factors for asthma. Thus, IL-4(C-590T) may be the susceptibility gene of asthma.

Donor genetic variants in interleukin-6 and interleukin-6 receptor associate with biopsy-proven rejection following kidney transplantation

Rejection after kidney transplantation remains an important cause of allograft failure that markedly impacts morbidity. Cytokines are a major player in rejection, and we, therefore, explored the impact of interleukin-6 (IL6) and IL-6 receptor (IL6R) gene polymorphisms on the occurrence of rejection after renal transplantation. We performed an observational cohort study analyzing both donor and recipient DNA in 1271 renal transplant‐pairs from the University Medical Center Groningen in The Netherlands and associated single nucleotide polymorphisms (SNPs) with biopsy-proven rejection after kidney transplantation. The C-allele of the IL6R SNP (Asp358Ala; rs2228145 A > C, formerly rs8192284) in donor kidneys conferred a reduced risk of rejection following renal transplantation (HR 0.78 per C-allele; 95%-CI 0.67–0.90; P = 0.001). On the other hand, the C-allele of the IL6 SNP (at position-174 in the promoter; rs1800795 G > C) in donor kidneys was associated with an increased risk of rejection for male organ donors (HR per C-allele 1.31; 95%-CI 1.08–1.58; P = 0.0006), but not female organ donors (P = 0.33). In contrast, neither the IL6 nor IL6R SNP in the recipient showed an association with renal transplant rejection. In conclusion, donor IL6 and IL6R genotypes but not recipient genotypes represent an independent prognostic marker for biopsy-proven renal allograft rejection.

Interleukin-6 gene polymorphism in Saudi population with recurrent aphthous stomatitis

IntroductionRecurrent aphthous ulcers are common but poorly understood mucosal disorder. Local and systemic conditions, genetic, immunological, and microbial factors may play a role in the pathogenesis of recurrent aphthous ulceration (RAS). Different aetiologies and mechanisms might be involved in the aetiopathogenesis of aphthous ulceration. Cytokines are thought to play an important role and high levels of interleukin (IL)-6, a pro-inflammatory cytokine, have been detected in the circulation of ulcer tissue. The purpose of the present study was to investigate if polymorphisms of IL-6 gene are associated with RAS in a cohort of specific population. MethodologyA total of 37 RAS patients and 18 healthy controls were included in the study. The genotypes of IL-6 gene −174G\\C polymorphisms were determined using polymerase chain reaction and sequencing. ResultsFour SNPs were analyzed, one known mutation which been evaluated as a risk factor for RAS, and three new mutations were investigated. The genotype frequencies of −174G\\C polymorphism showed no statistically significant differences between RAS patients and controls (p\\ 0.629). Polymorphisms of Rs1800795 heterozygous genotype were found in 21.62% of cases, and 33.33% of controls. Homozygous mutant genotype was found in 5.41% of cases and no homozygous mutant genotype was found in control group. The normal alleles were found in 72.97% of cases and 66.67% of control. ConclusionThus, according to our study, IL-6 gene polymorphism is not involved in RAS pathogenesis. Further studies should be done on large sample size to detect any association with pathogenesis. However, an alternative reasoning could point out to a complex interactive effect on IL-6 expression that might exist between any of the detected polymorphisms.

Associations of Single Nucleotide Polymorphisms in IL-18 Gene with Plasmodium falciparum-Associated Malaria

IntroductionInterleukin-18 (IL-18) is a pro-inflammatory cytokine, reported to be involved in the initial immune responses against malaria. Genetic variations in the host are an important factor that influences the etiology of malaria at several disease levels. Polymorphisms within the IL-18 gene are associated with susceptibility and clinical outcome of several diseases.MethodsWe genotyped single nucleotide polymorphisms (SNPs) in IL-18 of patients infected with Plasmodium falciparum with varying extent of parasitemia and different age groups.ResultsSNPs rs5744292 (OR = 70.446; 95% CI = 4.318–1149.323; p<0.0001) and rs544354 (OR = 1.498; 95% CI = 1.088–2.063; p=0.013) were found to be significantly associated with parasitemia in P. falciparum-infected patients when compared with healthy control subjects. SNP rs5744292 (OR = 7.597; 95% CI=1.028–56.156; p=0.019) was associated with increased parasite density in infected patients. SNPs rs544354 (OR 0.407; 95% CI=0.204–0.812; p = 0.009) and rs360714 (OR of 0.256; 95% CI=0.119–0.554; p = 0.001) were significantly associated with parasite density in an age-dependent manner, with the risk alleles present more frequently among the younger (1–9 years) patients. Several haplotypes were found to have a significant association with parasitemia. In-vitro expression analysis using luciferase reporter assay showed that SNPs rs1946518 and rs187238 in the IL-18 gene promoter region and rs360728 and rs5744292 in the 3ʹ-untranslated region of the IL-18 gene were associated with enhanced transcriptional activity.ConclusionOur results suggest that polymorphisms within the IL-18 gene are associated with the susceptibility to P. falciparum infection and related parasitemia among groups with different parasite density and across various age groups.

Gene polymorphism and serum levels of interleukin-18 in patients with coronary artery disease and type 2 diabetes mellitus

Background Circulating concentrations of interleukin-18 (IL-18) were shown to be correlated with the vascular events in patients with coronary artery disease (CAD). Objectives To assess the serum levels of IL-18 and its gene polymorphism in CAD and diabetic patients and correlate these findings with clinical, echocardiographic, laboratory, and coronary angiographic findings. Patients and methods This cross-sectional observational study included 180 patients, who were divided according to presence or absence of CAD and type 2 diabetes mellitus into four groups: group I (41 patients), nondiabetic patients without CAD; group II (51 patients), nondiabetic patients with CAD; group III (40 patients), diabetic patients without CAD; and group IV (48 patients), diabetic patients with CAD. Serum levels of IL-18 and its genotyping distributions were measured in all groups and correlated with the angiographic coronary scoring systems. Results Serum IL-18 level was higher significantly in patients with CAD (groups II and IV) than in patients without CAD (groups I and III) (P Conclusion IL-18 is a novel and independent risk factor for CAD, and it is associated with its extent and severity. IL-18 gene polymorphism at 137 G/C site could be a risk factor for development of CAD, presumably by increasing serum IL-18 levels. Individuals carrying the G allele and the G/G genotype of IL-18 have an increased risk to develop CAD.

Association of Interleukin-16 Gene Polymorphisms rs11556218 T/G and rs4072111 C/T with Risk of Breast Cancer in an Iranian Population

Association of Interleukin-16 Gene Polymorphisms rs11556218 T/G and rs4072111 C/T with Risk of Breast Cancer in an Iranian Population

Associations of IL13 gene polymorphisms and immune factors with Schistosoma haematobiuminfection in schoolchildren in four schistosomiasis-endemic communities in Ghana.

BackgroundSchistosomiasis remains a major public health issue with over 90% of the prevalence rates recorded in Sub-Saharan Africa. In this study, the relationships between different interleukin gene polymorphisms (IL-13-591A/G, IL-13-1055C/T, IL-13-1258A/G) and Schistosoma haematobium infection levels were evaluated; as well as the host plasma antibodies and cytokine profiles associated with schistosomiasis infection.MethodologyA total of 469 school children aged 6 to 19 years from four schistosomiasis-endemic communities in Ghana were involved. Single urine and stool samples were obtained from each pupil, processed via sedimentation and Kato-Katz, and examined via microscopy for Schistosoma and soil-transmitted helminth (STH) eggs. Next, venous blood samples were drawn from 350 healthy pupils, and used to measure antibody and plasma cytokine levels by ELISA. Single nucleotide polymorphisms in the IL-13 gene were genotyped on 71 selected blood samples using the Mass Array technique.Principal findings and conclusionThe overall prevalence of urinary schistosomiasis was 21.11%. Community-level prevalences were 17.12%, 32.11%, 20.80%, and 15.32% for Asempaneye, Barikumah, Eyan Akotoguah, and Apewosika respectively. Generally, higher S. haematobium infection prevalence and intensity were recorded for participants with genotypes bearing the IL13-1055C allele, the IL13-591A, and the IL13-1258A alleles. Also, higher S. haematobium infection prevalence was observed among participants in the 12-14-year age group with the IL13-1055C, IL13-591A, and IL13-1258A alleles. Interestingly, higher STH prevalence was also observed among participants with the IL13-1055C, IL13-591A, and IL13-1258A alleles. Furthermore, the age-associated trends of measured antibodies and cytokines of S. haematobium-infected school-children depicted a more pro-inflammatory immune profile for pupils aged up to 1l years, and an increasingly anti-inflammatory profile for pupils aged 12 years and above. This work provides insight into the influence of IL-13 gene polymorphisms on S. haematobium, and STH infections, in school-aged children (SAC).

Association of interleukin-6 (174 G/C) and interleukin-12B (1188 A/C) gene polymorphism with expression and risk of Japanese encephalitis disease in North Indian population

BackgroundJapanese encephalitis is an acute inflammatory disease caused by Japanese encephalitis virus (JEV). In this study we aim to determine the association of IL-6 (174) and IL-12B (1188A/C) gene polymorphisms with JEV susceptibility, disease severity and outcomes in north Indian population. MethodsThis study was performed an equal number of cases and control individuals (125). Gene polymorphism has been analyzed by PCR-RFLP and expression by ELISA. ResultsHomozygous(C/C) genotypes of IL-12B were significantly associated with protection in JE infection (p = 0.008, OR = 0.368) whereas IL-6 was not associated with JEV infection (p = 0.269, OR = 1.245). The C allele of IL-6 was associated with protection in JE disease and G/C genotype was associated with outcomes with recovered individuals. ConclusionIL-12B gene polymorphism leads to increase level of IL-12B in JE patients, which can contribute to JE susceptibility and disease severity. IL-6 polymorphism has not been associated with susceptibility of JE. Overall, this is the first information from northern India shows association of IL-6 and IL-12B polymorphisms with JE disease.

Interleukin 4 and Interleukin 4 receptor alpha gene variants and risk of atopy - A case control study based assessment

IntroductionIL4 pathway is known to upregulate IgE mediated immune responses and responsible for the manifestation of Atopic disorders. The current study was aimed to elucidate the genetic variations of Interleukin 4 (IL4) and Interleukin 4 receptor alpha (IL4R) genes and their possible association with atopic subjects. MethodsThe well-designed questionnaire was used to collect the subject demographic and clinical details. Biochemical parameters were analysed using Chemiluminescent Immunoassay (CLIA) technique. The genotyping was performed using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP). ResultsWe observed a statistically significant difference of serum Immunoglobulin-E (IgE) levels among cases and controls (P<0.05). Subjects harbouring the variant genotypes of I50V and Q576R single nucleotide polymorphisms (SNPs) in IL4R gene showed statistically differential risk towards atopic disorders. However, the variants genotype of 70 bp VNTR polymorphism in IL4 gene showed a protective role towards in predisposition to Atopy. On stratification, the above genetic variants had a significant impact on modifiable and non-modifiable factors associated with the disease. ConclusionOur study demonstrates that increased IgE levels and IL4 gene variants (I50V and Q576R) are significantly associated towards predisposition to allergic disorders in this study population.

IL-33 Gene Polymorphisms as Potential Biomarkers of Disease Susceptibility and Response to TNF Inhibitors in Rheumatoid Arthritis, Ankylosing Spondylitis, and Psoriatic Arthritis Patients.

ObjectiveRheumatoid arthritis (RA), ankylosing spondylitis (AS), and psoriatic arthritis (PsA) belong to inflammatory rheumatic diseases, the group of conditions of unknown etiology. However, a strong genetic component in their pathogenesis has been well established. A dysregulation of cytokine networks plays an important role in the development of inflammatory arthritis. Interleukin 33 (IL-33) is a recently identified member of the IL-1 family. To date, the significance of IL-33 in inflammatory arthritis has been poorly studied. This research aimed to investigate the potential of IL-33 gene polymorphisms to serve as biomarkers for disease susceptibility and TNF inhibitor response in RA, AS, and PsA patients.Materials and MethodsIn total, 735 patients diagnosed with RA, AS, and PsA and 229 healthy individuals were enrolled in the study. Genotyping for three single nucleotide polymorphisms (SNPs) within the IL-33 gene, namely, rs16924159 (A/G), rs10975519 (T/C), and rs7044343 (C/T), was performed using polymerase chain reaction amplification employing LightSNiP assays.ResultsIn the present study, the IL-33 rs10975519 CC genotype was associated with a decreased risk of developing RA in females, while the IL-33 rs16924159 polymorphism was associated with the efficacy of anti-TNF therapy and clinical parameters for RA and AS patients. The IL-33 rs16924159 AA genotype correlated with higher disease activity and worse clinical outcomes in RA patients treated with TNF inhibitors, and AS patients carrying the IL-33 rs16924159 AA genotype had higher disease activity and a worse response to anti-TNF therapy. That indicates a deleterious role of the IL-33 rs16924159 AA genotype in the context of RA, as well as AS.ConclusionsThe obtained results suggest that IL-33 gene polymorphisms might be potential candidate biomarkers of disease susceptibility and anti-TNF treatment response in patients with inflammatory rheumatic diseases.

Lack of Effects of the Genetic Polymorphisms of Interleukin-10 in Clinical Outcomes of COVID-19.

Interleukin-10 (IL-10) gene polymorphisms have been associated with severity and outcomes in patients with respiratory and nonrespiratory viral infections. The aim of this study was to assess whether rs1800871 and rs1800872 polymorphisms of IL-10 gene are associated with the clinical outcomes of COVID-19 in a Mexican population. Study subjects were 193 COVID-19 patients. The genotyping was carried out with real-time PCR and serum IL-10 levels were measured with enzyme-linked immunosorbent assay. Logistic regression analysis was used for analysis association with clinical outcomes. There was no evidence of an association between alleles, genotypes, or haplotypes frequencies between patient groups according to severity and outcomes. The rs1800871 and rs1800872 polymorphisms might not be genetic risk factors for severity and mortality for COVID-19 in Mexican mestizos patients from northwest Mexico.

Correlation between interleukin gene polymorphisms and current prevalence and mortality rates due to novel coronavirus disease 2019 (COVID-2019) in 23 countries.

BackgroundThe novel coronavirus disease 2019 (COVID‐19) infection may rely on a potential genetic background for the variations in the inflammatory response. We aimed to investigate the possible correlation between polymorphisms in the IL‐6 gene at rs1800796/rs1800795, in IL‐6R at rs2228145, in IL‐10 at rs1800896 and rs1800871, in IL‐17 at rs2275913 and rs763780 loci, and COVID‐19 prevalence and mortality rates among populations of 23 countries.MethodsWe searched the literature for polymorphisms in China, Japan, India, Spain, Mexico, Sweden, Turkey, Brazil, Russia, Poland, Italy, South Africa, Netherlands, Greece, Germany, UK, Iran, Finland, Czechia, Tunisia, Norway, Egypt, Croatia. We recorded the prevalence and mortality rates (per million) caused by the Coronavirus infection recorded on 7th September 2020 and 6th December 2020.ResultsThere was a significant positive correlation between the frequency of AG genotype of rs1800896 and prevalence recorded on 6th December 2020 (r: 0.53, r 2: 0.28, p < .05). There was a significant negative correlation between the mortality rates recorded on 7th September, and the AG genotype of rs2275913 (r: −0.51, r 2: 0.26, p < .05). There was a significant positive correlation between the prevalence recorded on 6th December, and TT genotype at rs763780 (r: 0.65, r2:0.42, p < .05) while a negative correlation between prevalence and TC genotype at rs763780 (r: −0.66, r 2: 0.43, p < .05). Also, a significant negative correlation was found between mortality rates recorded on 6th December 2020 and CC genotype at rs763780 (r: −0.56, r 2: 0.31, p < .05).ConclusionThe variations in prevalence of COVID‐19 and its mortality rates among countries may be explained by the polymorphisms at rs1800896 in IL‐10, rs2275913 in IL‐17A, and rs763780 loci in the IL‐17F gene.

Genetic and expression deregulation of immunoregulatory genes in rheumatoid arthritis.

Rheumatoid arthritis (RA) is one of the most common autoimmune diseases globally, and is an important public health concern, associating with early death and systemic complications. Although key development in RA treatment has already been made still RA affected individuals face comorbidity and disability. Therefore, there is a need to discover new risk factors in helping early diagnosis and treatment of RA. The present study is designed to assess the variations of Vitamin D receptor (VDR) and interleukin -6 (IL-6) in RA patients. Polymorphisms of said genes were calculated in 300 RA patients and 300 controls, using Tetra-ARMS polymerase chain reaction. Secondly, expression levels of selected genes were checked using the quantitative PCR (qPCR) and obtained results were evaluated using a different statistical test. Logistic regression analysis showed that frequency of mutant allele of VDR gene polymorphisms (rs11168268, OR = 4.84; 95% CI = 2.94-7.97; p = 0.0001; rs2248098, OR = 1.65; 95% CI = 1.07-2.54; p = 0.02) and IL-6 gene polymorphisms (rs184229712, OR = 2.47; 95% CI = 1.56-3.92, p = 0.0001; rs36215814, OR = 2.14; 95% CI = 1.30-3.53; p = 0.002) was observed significantly higher in RA patients vs controls. Expression analysis showed the significant upregulation of IL-6 (p < 0.0001) and downregulation of VDR gene (p < 0.0001) in RA cases vs controls. ROC curve analysis showed that downregulation of IL-6 (AUC = 0.86, p < 0.001) and upregulation of VDR (AUC = 0.77, p < 0.001) was act as the good diagnostic marker for detection/diagnosis of arthritis. In conclusions, data from the present study showed the significant involvement of VDR and IL-6 gene variations in RA pathogenesis.

Association between interleukin gene polymorphisms and susceptibility to gastric cancer in the Qinghai population.

ObjectiveTo investigate the associations between interleukin (IL) gene polymorphisms and susceptibility to gastric cancer in the Qinghai population, China.MethodsPatients with gastric cancer and cancer-free controls were enrolled into the study from Qinghai Provincial People’s Hospital between September 2016 and September 2018. Single nucleotide polymorphisms (SNPs) were genotyped with the Sequenom MassARRAY® SNP genotype system. The Hardy–Weinberg equilibrium in allele and genotype frequencies, and general characteristics between patients with gastric cancer and cancer-free controls, were evaluated using χ2-test. Potential associations between interleukin gene variants and the risk of gastric cancer were analysed by logistic regression.ResultsAmong eight candidate SNPs, the allele and genotype frequency distribution of IL-1B rs1143634 polymorphism was significantly different between patients with gastric cancer (n = 190) and cancer-free controls (n = 186). The IL-1B rs1143634 GA genotype and IL-1B rs1143634 GA + AA genotype were associated with a reduced risk of gastric cancer, however, the remaining SNPs were not statistically associated with gastric cancer risk in the Qinghai population.ConclusionThe IL-1B rs1143634 polymorphism might be associated with a decreased risk of gastric cancer, and may be a protective factor against gastric cancer.

Frequency of Interleukin-6 rs1800795 (-174G/C) and rs1800797 (-597G/A) Polymorphisms in COVID-19 Patients in Turkey Who Develop Macrophage Activation Syndrome.

Severe acute respiratory syndrome coronavirus 2 has infected over 100 million people since it appeared in Wuhan, China, just one year ago. This study aimed to evaluate the relationship between interleukin-6 (IL-6) gene polymorphisms -174G/C and -597G/A and coronavirus disease 2019 (COVID-19) course. The study included 70 patients aged 18-45 years who were diagnosed with COVID-19 in Turkey between March and November 2020 and hospitalized in our hospital. Of these, 40 patients required intensive care admission due to macrophage activation syndrome (MAS), and 30 patients did not develop MAS or acute respiratory distress syndrome. The frequencies of the IL-6-174G/C and -597G/A polymorphisms were determined. There were significant differences between the groups in terms of the -174G/C allele and genotype frequency according to the Hardy-Weinberg equilibrium (χ2 = 10.029, df = 1, P = 0.002 and χ2 = 9.998, df = 1, P = 0.002, respectively). The frequency of the GG genotype was significantly higher in the MAS group than in the non-MAS group (P = 0.002). The G allele was also significantly more frequent in the MAS group than in the non-MAS group (P = 0.032). Analysis of the -174G/C polymorphism in patients with MAS showed that the G allele may be a risk factor for increased serum IL-6 levels and progression to MAS.

Impact of IL10, MTP, SOD2, and APOE Gene Polymorphisms on the Severity of Liver Fibrosis Induced by HCV Genotype 4.

Complications of hepatitis C virus (HCV) chronic infection cause ~400,000 deaths worldwide annually. One complication, liver fibrosis, is influenced by host genetic factors. Genes influencing fibrosis include immune, metabolic, oxidative stress, and viral entry genes, such as interleukin 10 (IL10), microsomal triglyceride-transfer protein (MTP), superoxide dismutase-2 (SOD2), and apolipoprotein E (APOE)-encoding genes, respectively. Thus, correlating variations in these genes with HCV-induced fibrosis represents an attractive biomarker for the prognosis of fibrosis severity in chronically infected patients. Here, we aimed to test whether polymorphisms in IL10, MTP, SOD2, and APOE genes correlated with the severity of fibrosis induced by HCV genotype 4 (HCV-gt4) in a cohort of chronically infected Egyptian patients. Our results demonstrate a significant association between the severity of fibrosis and specific SNPs in IL-10, SOD2, and ApoE-encoding genes. Haplotype-combination analysis for IL10, MTP, SOD2, and APOE showed statistically significant associations between specific haplotype combinations and fibrosis severity. Identifying biomarkers correlating with the severity of HCV-gt4-induced fibrosis would significantly impact precision prophylaxis and treatment of patients at risk.