Interleukin-10 Gene Polymorphisms Research Articles

Combined Analysis of Interleukin-10 Gene Polymorphisms and Protein Expression in Children With Cerebral Palsy.

Interleukin-10 (IL-10) is an important anti-inflammatory and immunosuppressive cytokine, and it has indispensable functions in both the onset and development of inflammatory disorders. The association between persistent inflammation and the development of cerebral palsy (CP) has attracted much attention. The purpose of this study was to investigate whether IL-10 gene polymorphisms and plasma protein expression are associated with CP and to analyze the role of IL-10 in CP. A total of 282 CP patients and 197 healthy controls were genotyped for IL-10 polymorphisms (rs1554286, rs1518111, rs3024490, rs1800871, and rs1800896). Among them, 95 CP patients and 93 healthy controls were selected for plasma IL-10 measurement. The differences in the rs3024490 (p = 0.033) and rs1800871 (p = 0.033) allele frequencies of IL-10 were determined between CP patients and controls. The frequencies of allele and genotype between CP patients with spastic tetraplegia and normal controls of IL-10 polymorphisms showed significant differences for rs1554286, rs151811, rs3024490, rs1800871, and rs1800896 (pallele = 0.015, 0.009, 0.006, 0.003, and 0.006, pgenotype = 0.039, 0.018, 0.027, 0.012, and 0.03, respectively). The plasma IL-10 protein level in CP patients was higher than normal controls (9.13 ± 0.77 vs. 6.73 ± 0.63 pg/ml, p = 0.017). IL-10 polymorphisms and protein association analysis showed that the TT genotype had higher plasma IL-10 protein levels compared to the GG + GT genotype at rs3024490 (11.14 ± 7.27 vs. 7.44 ± 6.95 pg/ml, p = 0.045, respectively) in CP cases. These findings provide an important contribution toward explaining the pleiotropic role of IL-10 in the complex etiology of CP.

The IL-10-1082 (rs1800896) G allele is associated with a decreased risk of developing premature coronary artery disease and some IL-10 polymorphisms were associated with clinical and metabolic parameters. The GEA study

Interleukin 10 (IL-10) is an anti-inflammatory cytokine with a protective role in the formation and the development of the atherosclerotic plaque. The aim of the present study was to establish if IL-10 gene polymorphisms are associated with the development of premature coronary artery disease (pCAD) and cardiovascular risk factors in Mexican individuals. Three IL-10 gene polymorphisms [-592C/A (rs1800872), -819C/T (rs1800871), and -1082 A/G (rs1800896)] and IL-10 plasma levels were analyzed in 2266 individuals (1160 pCAD patients and 1106 healthy controls). Under recessive and co-dominant2 models, the -1082 A/G (rs1800896) G allele was associated with decreased risk of developing pCAD (OR = 0.572, Prec = 0.022 and OR = 0.567, Pcod2 = 0.023). In pCAD patients, the polymorphisms were associated with hyperinsulinemia, small and dense LDLs, hypertension, and diabetes mellitus. In the control group, the polymorphisms were associated with hypertension, hyperuricemia, and small and dense LDLs. pCAD patients have significantly higher IL-10 plasma levels than healthy controls [0.91 (0.55–1.67) pg/mL vs 0.45 (0.24–0.98) pg/mL, respectively, P < 0.0001]. Nevertheless, these levels were not associated with the genotypes analyzed in the present study. The results suggest that the IL-10-1082 A/G (rs1800896) G allele is associated with a decreased risk of developing pCAD. In patients and controls, the polymorphisms analyzed were associated with some cardiovascular risk factors. Although, in pCAD patients the IL-10 plasma levels were higher, they were not associated with the genotypes of the polymorphisms examined.

Interleukin-6 and interleukin-10 gene polymorphisms and the risk of further periodontal disease progression.

Susceptible genotypes to periodontal disease are associated with disease onset and progression. The aim of this study was to examine the effect of gene polymorphisms on the risk of further disease progression and the need for further treatment among adults with chronic periodontal disease. Sixty-seven patients diagnosed with chronic periodontitis were grouped according to genotype status and risk of further progression of disease and tooth loss. All individuals were clinically evaluated for probing pocket depth, clinical attachment loss and bleeding on probing at baseline and 45 days after treatment. Blood samples were collected at baseline and genotyping of the polymorphisms in IL-6 (rs1800796) and IL-10 (rs1800872) genes were performed by PCR. Following DNA separation and genotyping, 65.7% of the patients were homozygous carriers of the IL-6 -572G and 49.3% were carriers of the IL-10 -592A allele. Individuals at risk of disease progression ranged from 7.5% to 62.7% based on the criteria used. Carriers of the IL-10 -592A allele were significantly associated with BOP ≥ 30% and therefore exhibited a higher risk of further periodontal breakdown (p = 0.018) with an odds ratio of 1.18. None of the other definitions of disease progression were significantly associated with the examined IL-6 and IL-10 genotypes (p > 0.05). IL-10 polymorphism was associated with an increased risk of further disease progression and the potential need for further treatment following non-surgical periodontal treatment. Susceptible IL-6 genotypes were not associated with the risk of persisting or recurrent disease activity.

Identification of Functional Genetic Polymorphisms at IL-10 Promoter Region and their Association with Risk of Ischemic Stroke in Chinese Han Population.

Pleiotropic cytokine interleukin-10 (IL-10) has been suggested as modifying risk for atherosclerosis. Promoter region genetic polymorphism of IL-10 gene is known to be associated with the level of IL-10 production. Through these effects, they might be involved with the ischemic stroke (IS). Our aim was to assess the nature of the functional polymorphisms in IL-10 promoter and any links with IS in Chinese Han population. The IL-10 -1082 G>A, -819 C>T and -592 C>A functional polymorphisms were determined by TaqMan SNP Genotyping assays in 1296 subjects (648 IS patients diagnosed by CTs or/and magnetic resonance imaging (MRI) and 648 normal healthy controls from Chinese Han Population). Multivariate logistic regression analysis was used to show the association between the IL-10 genotypes and the IS events. We found that the CC genotype of -819 C>T was more common in controls than IS subjects (P<0.05, corrected for multiple testing) in the Han population. CC carriage may be associated with the decreased risk of IS in the Han ethnic group (OR 0.65, 95% CI 0.43-0.97). In addition, the CC genotype in -592 C>A and GG genotype in -1082 G>A are all extremely low in Chinese Han cases and controls. The G allele frequency at the -1082 promoter region of IL-10 was rare in Chinese Han population which are diffierent from American/European populations.. IL-10 -819 C>T may be an independent protective factor for IS in the Chinese Han population.

Interleukin gene polymorphisms and susceptibility to HIV-1 infection: a meta-analysis

Some subjects are repeatedly exposed to human immunodeficiency virus (HIV), yet they remain uninfected. This suggests the existence of host-resistance mechanisms. The current study synthesizes the evidence regarding the association between interleukin (IL) gene polymorphisms and HIV susceptibility. Medline, Scopus and the Web of Science databases were systematically searched, and a meta-analysis of case-control studies was conducted. Univariate and bivariate methods were used. The literature search identified 42 eligible studies involving 15,727 subjects. Evidence was obtained on eight single-nucleotide polymorphisms (SNPs): IL1A -889 C>T (rs1800587), IL1B +3953/4 C>T (rs1143634), IL4 -589/90 C>T (rs2243250), IL6 -174 G>C (rs1800795), IL10 -592 C>A (rs1800872), IL10-1082 A>G (rs1800896), IL12B -1188 A>C (rs3212227) and IL28B C>T (rs12979860). The IL1B +3953/4 C>T variant appears to increase the risk of HIV acquisition, under the assumption of a recessive genetic model (odds ratio (OR): 4.47, 95% CI: 2.35-8.52). The AA homozygotes of the IL10 -592 C>A SNP had an increased, marginally nonsignificant, risk (OR: 1.39, 95% CI: 0.97-2.01). It reached, however, significance in sub analyses (OR: 1.49, 95% CI: 1.04-2.12). Finally, the well-studied hepatitis C virus (HCV) infection IL28B (rs12979860) CT/TT genotypes were associated with a 27% decrease in HIV infection risk, especially in populations infected with HCV (OR: 0.73, 95% CI: 0.57-0.95). Interleukin signalling is perhaps important in HIV infection and some interleukin genetic variants may affect the risk of HIV acquisition. Approaches targeting specific genes and genome wide association studies should be conducted to decipher the effect of these polymorphisms.

ASSOCIATION OF INTERLEUKIN-10 -1082 A/G (RS1800896) POLYMORPHISM WITH SUSCEPTIBILITY TO GASTRIC CANCER: META-ANALYSIS OF 6,101 CASES AND 8,557 CONTROLS.

The promoter -1082 A/G (rs1800896) polymorphism of Interleukin-10 (IL-10) gene have been widely reported and considered to have a significant role on gastric cancer risk, but the results are inconsistent. To clarify the association, we conducted a meta-analysis to investigate the associations IL-10 -1082 A/G polymorphism with gastric cancer. Eligible articles were identified by searching databases including PubMed, Web of Science, and Google Scholar up to August 03, 2017. Odds ratios (OR) with corresponding 95% confidence intervals (CIs) were used to assess the association. A total of 30 case-control studies with 6,101 cases and 8,557 controls were included in this meta-analysis. Overall, a significant association between IL-10 -1082 A/G polymorphism and gastric cancer risk was observed under the allele model (G vs A: OR=1.305, 95% CI=1.076-1.584; P=0.007), heterozygote model and (GA vs AA: OR=1.252, 95% CI=1.252-1.054; P=0.011) and dominant model (GG+GA vs AA: OR=1.264, 95% CI=1.053-1.516; P=0.012). In the subgroup analysis by ethnicity, increased gastric cancer risk were found in Asians under the allele model (G vs A: OR=1.520, 95% CI=1.172-1.973; P=0.002), homozygote model (GG+GA vs AA: OR=1.571, 95% CI=1.023-2.414; P= 0.039), heterozygote model (GA vs AA: OR=1.465, 95% CI=1.192-1.801; P≤0.001) and dominant model (GG+GA vs AA: OR=1.448, 95% CI=1.152-1.821; P=0.002), but not among Caucasian and Latinos populations. These results suggested that the IL-10 -1082 A/G (rs1800896) polymorphism might contribute to the gastric cancer susceptibility, especially among Asians.

The effects of IL-10 gene polymorphism on serum, and gingival crevicular fluid levels of IL-6 and IL-10 in chronic periodontitis.

ObjectiveAnti-inflammatory cytokines play a crucial role in periodontitis by inhibiting synthesis of pro-inflammatory cytokines. The purpose of this study was to evaluate the effect of interleukin-10 (-597) gene polymorphism and genotype distributions on chronic periodontitis (CP) development and IL-6 and IL-10 levels in gingival crevicular fluid (GCF) and serum before and after non-surgical periodontal treatment.Material and MethodsThe study population consisted of 55 severe generalized CP patients as CP group and 50 healthy individuals as control group. Plaque index, gingival index, probing depth and clinical attachment level were recorded and GCF and blood samples were taken at both the baseline and the sixth week after non-surgical periodontal treatment. PCR-RFLP procedure was used for gene analyses and cytokine levels were measured via ELISA.ResultsIL-10 genotype distribution was significantly different between CP and control groups (p=0.000, OR:7, 95%CI, 2.83-60.25). Clinical measurements significantly improved in the CP group after periodontal treatment (p<0.05). Periodontal treatment significantly decreased GCF IL-6 and IL-10 levels. No significant difference was found in clinical parameters between IL-10 AA and AC+CC genotypes at both the baseline and the sixth week (p>0.05). Sixth week GCF IL-10 levels were significantly lower in patients carrying IL-10 AC+CC genotype compared to the patients carrying IL-10 AA genotype (p<0.05). Serum IL-6 and IL-10 levels were lower in patients carrying the IL-10 AA genotype compared to patients with IL-10 AC+CC genotype, but the difference was not significant (p>0.05).ConclusionIL-10 AA genotype carriers had lower IL-6 and IL-6/10 levels in serum; however, GCF IL-6/10 levels were similar in both genotypes. Within the limitations of our study, a possible association between IL-10(-597) gene polymorphism and CP might be considered.

Distribution of IL28B and IL10 polymorphisms as genetic predictors of treatment response in Pakistani HCV genotype 3 patients.

There are over 10 million hepatitis C virus (HCV)-infected patients in Pakistan. For these patients, a combination of interferon with ribavirin is the most economical and easily available treatment. Single-nucleotide polymorphisms in interleukin genes have been reported to be associated with the pathogenesis and clearance of HCV, and sustained virologic response (SVR). An interleukin 28B (IL28B) gene polymorphism has been shown to modify treatment outcomes, but the effects of interleukin 10 (IL10) polymorphisms have not been previously assessed in the Pakistani population. The present study was conducted with 302 subjects categorized into two groups: 100 healthy volunteers (Group I) and 202 patients with chronic HCV (Group II). Patients within Group II were further divided into two subgroups according to therapeutic response: SVR (responders = 132) and NR (non-responders/relapsers = 70). IL28B (rs8099917, rs12979860) and IL10 (rs1800872, rs1800871, rs1800896) gene polymorphisms were studied in all subjects. A significant difference in the distribution of IL28B rs12979860C/T genotypes between the two groups (p<0.05) was observed, while of the three IL10 polymorphisms, a significant difference was only shown for rs1800896 A/G. Haplotype analysis (IL28B and IL10) showed a significant association of TTGTC and TTGTA when comparing the groups. There was a strong association of the favorable alleles rs8099917T and rs12979860C in the SVR group as compared with the NR group (p<0.05), and rs1800896 also showed an association with the SVR group as compared to the NR group (p<0.004). Haplotype analysis showed significant associations when comparing the SVR and NR subgroups, i.e. TCATC (p=0.009), TTGTA (p=0.005), TCATA (p<0.0005), TCACA (p=0.002), GTGCC (p=0.002) and TCGTC (p=0.005). IL28B (rs8099917 and rs12979860) and IL10 (rs1800896) polymorphisms alone, or in combination, are good predictors of therapeutic response in HCV-3a patients.

Significant association between interleukin-10 gene polymorphisms and cervical cancer risk: a meta-analysis.

Previous studies have suggested that interleukin-10 (IL-10) polymorphisms may be associated with an increased risk of developing cervical cancer. However, the published results on this subject matter are controversial. The aim of this study was to conduct a meta-analysis of published reports to more precisely investigate the relationship between IL-10 polymorphisms and cervical cancer risk. Five online databases (PubMed, Embase, Web of SCI, CNKI and Wanfang) were searched, and seventeen articles with sufficient quantitative information were included in our meta-analysis. The odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to assess the association between IL-10 polymorphisms and cervical cancer risk. Publication bias, sensitivity and cumulative analyses were also performed to support our findings. Overall, there was a significant association between the IL-10 -1082A > G polymorphism and cervical cancer risk observed in the total population (G vs. A: OR = 1.60, 95% CI = 1.12–2.29, P = 0.01, I2 = 92.3%; AG vs. AA: OR = 1.34, 95% CI = 1.04-1.74, P = 0.03, I2 = 65.9%; AG + GG vs. AA: OR = 1.58, 95% CI = 1.11–2.25, P = 0.01, I2 = 84.4%), and the same results were obtained in the subgroup analysis. Moreover, the IL-10 -819 T > C polymorphism exhibited a significant, protective effect against cervical cancer. In summary, our meta-analysis suggests that IL-10 polymorphisms may play a variety of roles in regard to cervical cancer risk, especially in Asians.

Interleukin-6 gene polymorphisms and serum erythropoietin and hemoglobin in hemodialysis Iraqi patients.

Chronic kidney disease (CKD) is characterized by elevated levels of pro-inflammatory cytokines. Interleukin-6 (IL-6) is a pleiotropic and pro-inflammatory cytokine involved in different biological activities such as hematopoiesis, inflammation, and acute-phase response. The rate of IL-6 synthesis and degradation is affected by single nucleotide polymorphisms. This study aimed to evaluate the frequencies of 174G/C IL-6 gene promoter polymorphism in Iraqi hemodialysis (HD) patient and to examine the association between the allelic variations and serum erythropoietin (EPO) and hemoglobin (Hb) levels. The frequencies of IL-6 gene polymorphism were studied in 70 chronic renal failure patients on maintenance HD (patients group) and in 20 healthy participants (control group). Genotyping of IL-6 gene was performed by conventional polymerase chain reaction-restriction fragment length polymorphism. The distribution of IL-6 genotypes between groups was similar, and GG genotype is the most frequent followed by CG and CC genotypes. Control group had a nonsignificant difference in serum EPO levels among different IL-6 genotypes, while patients with GG genotype displayed significant elevation in serum EPO with time, followed by CG and CC genotypes. No significant differences in Hb levels were observed in patients and control groups. A significant positive correlation was observed between serum EPO and Hb in control group with different IL-6 genotypes, while a nonsignificant negative correlation was observed in patients group throughout the study. CKD did not significantly alter IL-6 genotypes, and IL-6 gene polymorphism had a significant effect on serum EPO levels and a nonsignificant effect on Hb levels.

Research Article Retrospective Investigation of Interleukin 1 and 6 Gene Polymorphism among Elderly Patients with Sarcopenia in the Turkish Population

Introduction: Sarcopenia, one of the geriatric syndromes, is defined as generalized and progressive reduction in skeletal muscle mass accompanied by loss of muscle strength and/or function. There is a paucity of research in the Turkish population about the effects of interleukin 1 (IL-1) and IL-6 gene polymorphism on sarcopenia. The aim of this study was to evaluate the relationship between IL-1 and IL-6 gene polymorphism and sarcopenia in the older Turkish population. Materials and Methods: The study included elderly residents of nursing homes who were 65 years or older had resided in a nursing home. Data regarding the patients’ demographics, anthropometric measurements, muscle strength and physical performance were retrospectively examined. Sarcopenia screening was performed as specified in the European Union Geriatric Association’s 2010 report entitled “The European Working Group on Sarcopenia in Older People”. Fat-free mass (FFM) was compared to individuals in the general population between 18 and 45 years old with no illnesses or medication use (534 men, 180 women). Nursing home residents were divided into two groups: with or without sarcopenia. A blood sample was taken from each participant. DNA was obtained from peripheral blood and Interleukin 1 and 6 Gene Polymorphism was genotyped by polymerase chain reaction and restriction fragment length polymorphism method. Results: A total of 149 elderly patients were included in the study. The overall rate of sarcopenia was determined as 42.2 %. There was no statistically significant difference in sarcopenia based on IL-6, IL-1B31, and IL-1B511 genotype distributions and allele frequencies. Conclusions: Our study demonstrates that sarcopenia in Turkish population is not influenced by IL-1 and IL-6 polymorphism

The role of single nucleotide Interleukin-6 (IL-6) polymorphism gene in Psoriasis vulgaris patients at Haji Adam Malik Central Hospital, Medan-Indonesia

Background: Psoriasis is a chronic, recidive inflammatory skin disease. The main pathogenesis process is currently unknown. This disease is known as a complex disorder, influenced by both genetic susceptibility and environmental factors.Aim: This study is aimed to analyze and determine the distribution of single nucleotide polymorphism (SNP) in IL-6 gene of psoriasis vulgaris patients and control patients.Method: This study uses a case-control design to compare SNP in the IL-6 gene between psoriasis vulgaris group and control group.Results: The most common genotype of the IL-6 gene Rs 1800795 in psoriasis vulgaris patients is GG (dominant homozygous) with a total of 21 patients (46.7%). The most common genotype allele in the control group is Gc (heterozygous) with a total of 27 patients (60%). We observed a significant correlation between the groups (p = 0.044).Conclusion:Homozygote for IL-6 allele G (GG) is a prominent finding in the case group, while in the control group heterozygous allele (Gc) is a more common finding, thus suggesting that a patient with dominant homozygote alleles will have a more severe condition when compared to those who have the heterozygote alleles.

Association Between Interleukin-10 Gene (-1082g/A) Polymorphism and Type 2 Diabetes, Diabetes-Related Traits, and Microvascular Complications in the Croatian Population.

SUMMARY – Interleukin (IL)-10 is an anti-inflammatory cytokine, and a decrease in its secretion is associated with obesity, metabolic syndrome and type 2 diabetes. However, it has not been established whether the intensity of the immune response during diabetes-associated chronic inflammation affects the development and/or progression of type 2 diabetes and its microvascular complications. The aim of this study was to investigate the role of single nucleotide polymorphism (SNP)-1082G/A for IL-10 gene in development of diabetes type 2 and its complications. DNA was extracted from blood cells of 240 overweight/obese subjects for IL-10 genotyping. Based on the presence of diabetes type 2, patients were divided in two groups: experimental group of 144 patients with diabetes type 2 and control group of 96 age- and gender-matched subjects without diabetes. Compared to control group, diabetic group had higher levels of leukocytes (p=0.012), fibrinogen (p=0.049) and plasminogen activator inhibitor-1 (PAI-1) (p=0.009), and lower levels of albumin (p=0.001). There were no differences in the frequency of SNP-1082G/A for IL-10 gene between the two groups (p=0.654). When considering diabetes related traits in all subjects in relation to specific genotype, a group with homozygous (AA) genotype had higher values of the mean fasting glucose (p<0.000001), HbA1c (p<0.000001) and HOMA-IR (p=0.003632), while the mean HOMA-B value (p=0.000178) was lower when compared to the groups with GG and GA genotypes. There was no difference in development of diabetic nephropathy, retinopathy and polyneuropathy between the IL-10 polymorphism genotypes. In conclusion, obese diabetes type 2 patients had an increased inflammation activity compared to obese non-diabetic individuals. There was no association of the investigated polymorphisms and development of type 2 diabetes and its microvascular complications. However, diabetes related traits clearly depended on the presence of specific IL-10 genotype.

Single Nucleotide Polymorphism of Interleukin-6 Gene at Position +565 in Type-1 Diabetic Patients in Baqubah City, Diyala, Iraq

Single Nucleotide Polymorphism of Interleukin-6 Gene at Position +565 in Type-1 Diabetic Patients in Baqubah City, Diyala, Iraq

The relationship between 174 G/C and -572 G/C of IL-6 gene polymorphisms and susceptibility of celiac disease in the Iranian population.

IntroductionCeliac disease (CD) is a chronic inflammatory intestinal disorder. Different immunological factors, including inflammatory cytokines, may play an important role in disease susceptibility.AimTo investigate the relationship between -174G/C and -572G/C gene polymorphisms and the serum level of interleukin 6 (IL-6) and susceptibility to CD in the Iranian population.Material and methodsIn this case-control study blood samples were collected of 105 patients with CD and 106 healthy subjects randomly in 2016 and evaluated by polymerase chain reaction-restriction fragments length polymorphism (PCR-RFLP) method. A sequence was also used to confirm the results of both polymorphisms. The IL-6 concentration was measured using ELISA.ResultsThe results showed a significant relationship between polymorphism -572G in CD patients when compared with control subjects by genotype (p = 0.001) and alleles (p = 0.022), respectively. There was no significant relationship between polymorphism 174G and frequency of genotype, but an association of this polymorphism with the frequency of alleles (p = 0.034), age (p = 0.001), and body mass index (p = 0.003) was seen. The serum level of interleukin-6 was significantly associated only with rs1800796 (p < 0.001).ConclusionsThe results confirm previous studies in different parts of the world and indicate that IL-6 (572G/C) polymorphism may play a role in susceptibility to CD in the Iranian population.

Associations of interleukin-10 gene polymorphisms with acute myeloid leukemia in human (Egypt).

Acute myeloid leukemia (AML) is a cytogenetically and molecularly heterogeneous diseases, and characterization of transforming genetic events is becoming increasingly important. Interleukins (ILs) are a diverse set of small cell signaling protein molecules. Single nucleotide polymorphisms (SNPs) of ILs alter their function, increasing susceptibility to different diseases. We investigated the association between polymorphism in IL-10 -819T/C (rs1800871) and the risk of AML in the Egyptian population. DNA was isolated from bone marrow of 80 newly diagnosed adult AML patients, and 85 age- and sex-matched controls. Genetic analysis of IL-10 SNPs at -819T/C was assayed by polymerase chain reaction-restriction fragment length polymorphism. Genetic analysis of IL-10 revealed that the Egyptians have high -819T allele frequencies in apparently healthy controls, whereas -819CC genotype and the -819C allele frequencies in the AML group were higher than in the controls (P = 0.000086). The study suggested that subjects carrying the rs1800871CC genotype and C allele had a significantly increased risk for AML. IL-10 SNP at -819 was associated with enhanced AML risk, suggesting that rs1800871 provides clue for future studies and early detection of AML.

Analysis of interleukin-10 gene polymorphisms in patients with chronic periodontitis and healthy controls.

Interleukin-10 (IL-10) is an anti-inflammatory cytokine that has important roles in the periodontal diseases. The IL10-1082, -819, and -592 polymorphisms in the promoter region of IL-10 gene have been associated with various IL-10 expressions. The aim of this study was to investigate the association between these gene polymorphisms with chronic periodontitis in a sample of Iranian populations from Southeast of Iran. IL-10 single nucleotide polymorphisms were analyzed in 210 patients with chronic periodontitis (CP) and 100 individuals without CP by polymerase chain reaction-restriction fragment length polymorphism method. Statistical analysis of data was performed using the Chi-square test. The risk associated with single alleles, genotypes, and haplotypes were calculated by performing a multiple logistic regression analysis to estimate the odds ratio (OR) and 95% confidence interval (CI). P < 0.05 for statistical significance. The prevalences of AG and GG genotypes of IL10-1082 were significantly different between CP and control groups in comparison to AA genotype (OR = 2.671; CI = 1.482-4.815; P = 0.001 for AG vs. AA, OR = 4.151; CI = 2.128-8.097; P < 0.001 for GG vs. AA). In addition, subjects with at least one IL10-1082-G allele were significantly had an increased risk for CP (OR = 2.157; CI = 1.531-3.038; P < 0.001). The distribution of the IL10-819 and IL10-592 genotypes was not different between CP and control subjects (P = 0.109 and P = 0.139, respectively). The combination of different genotypes showed that GCC haplotype was significantly different between groups (OR = 4.379; CI = 1.077-17.807; P = 0.039). The results demonstrated that IL10-1082 polymorphism was a putative risk factor for chronic periodontitis and associated with increased susceptibility to CP.

Molecular analysis of interleukin-10 gene polymorphisms in patients with Behçet's disease

BackgroundInterleukin 10 (IL-10) is a cytokine with potent anti-inflammatory properties that play a fundamental role in restrictive host immune response to pathogens, by means of that is a crucial importance for chronic inflammatory disease studies. Therefore, the goal of this study was to measure the correlation of the IL-10 gene polymorphisms with the susceptibility to Behçet's disease compared with the control group in the Azeri population and to determine the expression of this gene in the two groups. Also, real-time PCR was performed for evaluate the IL-10 mRNA expression of the associated polymorphisms. MethodsIn this study, blood samples from 47 (1 missed) patients and 58 (3 missed) healthy control were taken, and then mononuclear cells isolated with ficoll protocol. The DNA and RNA were subsequently extracted. They were examined for −592A/C (rs1800872) of IL-10 gene single nucleotide polymorphism (SNP) using RFLP-PCR. Allele and genotype distributions were evaluated among groups using chi-square or Fisher’s test. Following this, the extracted RNA was converted to cDNA using the RT-PCR method, after that expression of IL-10 evaluated by Real-time PCR. Serum levels of IL-10 were measured using Enzyme-linked immunosorbent assay (ELISA). ResultsRates of the rs1800872 A allele was statistically lower in the control group compared with BD patients (p = 0.0315 and OR = 1.90 (1.05–3.42)). Also, as we expected, the expression level of the IL-10 gene was seen to significantly decrease in the patient group compared to the control. ConclusionsOur study showed that the rs1800872 A allele of the IL-10 gene may contribute to the genetic susceptibility of BD by regulating the expression of IL-10. Also as we expected, the expression level of this gene was seen to significantly decrease in the patient group compared to the control.

Interleukin 1 gene polymorphism and susceptibility to disease.

The Interleukin 1 (IL-1) family plays a central role in the generation and regulation of inflammatory responses, in both innate and adaptive immunity. Although the IL-1 molecules are traditionally considered to be classical proinflammatory cytokines, their functions are not restricted to inflammation, and they have also been shown to play a key role in a wide range of additional physiological and pathological functions, including learning modulation, sleep, pregnancy, depression, appetite, hematopoiesis, metabolism, and many others. Since their effect as cytokines and regulators of inflammation is so pleiotropic, any shift of the biological balance between agonistic and antagonistic signals has the potential to cause disease. Here, we consider the genetic influence of interleukin-1 gene polymorphism in the context of susceptibility to human diseases. We review known single nucleotide polymorphisms (SNP) of IL-1 genes linked to human diseases, and suggest how exploring biological effects of IL-1 gene cluster polymorphism may lead to new directions in understanding and diagnostic of disease and effective treatment.

Interleukin gene polymorphisms in Chinese Han population with breast cancer, a case-control study.

Cytokines are known as important regulators of the cancer involved in inflammatory and immunological responses. This fact and plethora of gene polymorphism data prompted us to investigate IL1 gene polymorphisms in breast cancer (BC) patients. Totally, 530 patients with BC and 628 healthy control women were studied. The genetic polymorphisms for IL1 were analyzed by Massarray Sequencing method. Three single nucleotide polymorphisms (SNPs) identified in IL1B, IL1R1 gene are thought to influence breast cancer risk. The results of the association between IL-1B, IL1R1 polymorphisms and breast cancer risk have significant. We found that the variant TT genotype of rs10490571 was associated with a significantly increased breast cancer risk (TT vs. CC: OR = 2.82, 95% CI = 1.12–7.08, P = 0.047 for the codominant model). For rs16944 (AG vs. GG: OR = 0.60, 95% CI = 0.41–0.90, P = 0.034 for the codominant model) and rs1143623 (CG vs. CC: OR = 0.65, 95% CI = 0.45–0.94, P = 0.023 for the codominant model) have significant associations were found in genetic models. In conclusion, the present analysis suggests a correlation of polymorphic markers within the IL-1 gene locus with the risk in developing breast cancer. Taken together with our finding that IL1B, IL1R1 gene three SNP are also associated with the risk for the disease, we suggest that inflammation via innate and adaptive immunity contributes to multifactorial hereditary predisposition to pathogenesis of the breast cancer.