C-159T Polymorphism Research Articles

Association of serum CD14 level and functional polymorphism C-159T in the promoter region of CD14 gene with allergic rhinitis

Allergic rhinitis (AR) is an inflammatory disease of the upper respiratory tract affecting a significant number of the world’s population. It occurs as an IgE-mediated immune response of the nasal mucosa to inhaled allergens. The human Cluster of Differentiation 14 (CD14) is a glycosyl-phosphatidylinositol-anchored molecule expressed on the surface of monocytes and macrophages and functions as a receptor to lipopolysaccharides and inhaled endotoxins that may stimulate interleukins production by antigen-presenting cells. Consequently, CD14 plays a substantial role in allergic diseases and may become one of their etiological causes. This study aimed to determine the association between C-159T polymorphism in the CD14 gene promoter region and serum CD14 levels and the risk of Allergic rhinitis Egyptian patients and to test the validity of serum CD14 level measurement in predicting AR. This case–control study included 45 patients with AR referred to Allergy and Immunology Unit, Zagazig University Hospital, Zagazig, Egypt, and 45 healthy subjects as controls. Serum CD14 levels were measured by ELISA. The polymerase chain reaction-restriction fragment length polymorphism technique was used to detect C-159T gene polymorphism in the CD14 promoter region. There was a significant association between CD14 serum levels and AR incidence (P < 0.001), with patients having higher serum CD14 levels than controls. In addition, a significant association (P < 0.001) was detected between serum CD14 levels and the severity of AR, as well as elevated serum CD14 levels in severe and the most severe cases. On the molecular level, there was a statistically significant relationship between patients and the control group regarding the CD14 genotype (P < 0.001), where CT and TT genotypes and T allele were primarily associated with the cases group, indicating that the risk of AR was significantly associated with the inheritance of the TT genotype. Additionally, a statistically significant association was found between the severity of AR and CD14 genotype (P < 0.001), where TT genotypes were mainly associated with severe and the most severe cases. In the studied groups, there was a statistically significant difference (P < 0.05) between the CD14 genotype and serum CD14 levels, with TT genotypes being associated with higher CD14 levels. The results obtained in this study revealed that serum CD14 level is a potential biomarker for the diagnosis of AR and, at the genetic level, a potential predictor of disease.

Associations of Plasma BDNF and BDNF Gene Polymorphism with Cardiometabolic Parameters in Thai Children: A Pilot Study.

Childhood obesity is an important public health crisis worldwide. The brain-derived neurotrophic factor (BDNF) has been demonstrated to play a role in controlling energy homeostasis and cardiovascular regulation. To examine brain-derived neurotrophic factor (BDNF) levels and anthropometric-cardiometabolic and hematological parameters in obese and nonobese children and to determine whether two BDNF gene polymorphisms (G196A and C270T) are linked to BDNF levels, obesity, and anthropometric-cardiometabolic and hematological parameters among Thai children. This case-control study included an analysis of 469 Thai children: 279 healthy nonobese and 190 obese children. Anthropometric-cardiometabolic and hematological variables and BDNF levels were measured. Genotyping of BDNF G196A and C270T was performed using the polymerase chain reaction-restriction fragment length polymorphism technique. Children in the obese group had significantly higher white blood cell counts and some cardiometabolic parameters. Although the difference in BDNF level between the nonobese and obese groups was not significant, BDNF level was significantly positively correlated with hematological and cardiometabolic parameters, including blood pressure, triglycerides, and triglycerides and the glucose index. The BDNF G196A polymorphism in children was only associated with decreased systolic blood pressure (p < 0.05), while the BDNF C270T polymorphism was found not to be related to BDNF levels, obesity, or other parameters after adjusting for potential covariates. These findings in Thai children suggest that obesity is associated with increased cardiometabolic risk factors, but not with BDNF levels or the two BDNF polymorphisms studied, while the BDNF G196A polymorphism is a beneficial marker for controlling blood pressure among Thai children.

Investigating the relationship between C-159T polymorphism in CD14 gene promoter and disease severity in 2019 corona virus patients

Introduction: Considering the effectiveness of polymorphisms in the occurrence of respiratory diseases, it seems that these genetic variations in viral and microbial receptors can be effective in the occurrence and progression of the disease. The present study aimed to assess the relationship between the C-159T polymorphism in the CD14 gene promoter and the severity of the disease in Covid-19 patients during 2020-2021. Method: The subjects were randomly selected from subjects referred for polymerase chain reaction (PCR) and studied in five groups: healthy, outpatient, non-critically ill hospitalized, critically ill hospitalized, and deceased patients. The peripheral blood (3ml) was obtained from all patients and DNA was extracted. Thereafter, C-159T polymorphism in the CD14 gene promoter was determined by PCR-restriction fragment length polymorphism (RFLP) method. The genotype frequency was determined in terms of heterozygosity, homozygosity, and mutant regarding polymorphism. The data were analyzed in SPSS software (version 21) (P&lt;0.05). Results: The results pointed out that the most common C-159T polymorphism was the CT polymorphism, which was observed in 107 (51.0%) subjects and was significantly higher than other polymorphisms in all PCR- and PCR+ participants. This difference was not significant for deceased people. Conclusion: According to the results pointing out that the C-159T polymorphism is effective in causing the disease, as well as the significant relationship between the TT and CT genotypes with the coronavirus, the probability of developing the disease is higher in T allele carriers. Therefore, it is suggested that CT polymorphism in CD14 gene promoter is considered an important prognosis in coronavirus disease.

The association between BDNF C270T genetic variants and smoking in patients with mental disorders and in healthy controls

Studies investigating the association between smoking and the brain-derived neurotrophic factor (BDNF) Val66Met polymorphism have reported inconclusive results, while the studies on the association of smoking status with BDNF C270T polymorphism are missing. We aimed to determine the association of smoking and BDNF Val66Met and C270T genetic variants in control subjects and patients with mental disorders. This study included 3502 Caucasian subjects: 918 healthy controls and 2584 patients with mental disorders (519 individuals with posttraumatic stress disorder (PTSD), 419 patients with depression, 996 patients with schizophrenia, and 650 patients with alcohol dependence). The frequency of the BDNF Val66Met and C270T variants were presented in codominant, dominant and recessive models. BDNF C270T, but not BDNF Val66Met polymorphism, was significantly associated with smoking in all groups, since the presence of the C270T T allele was more frequently found in smokers compared to non-smokers. Significant predictors of smoking were sex, age and BDNF C270T genetic variants. However, after detailed analysis of the separate diagnostic entities, the significant association of BDNF C270T polymorphism was confirmed only in healthy subjects, but not in patients with mental disorders; and was not related to number of cigarettes smoked per day. In patients with alcohol dependence, the severity of smoking was significantly associated with BDNF Val66Met variants. This is a first report of the significant association between the BDNF C270T polymorphism and smoking status in the large groups of Caucasian cases/controls.

Cognition in Schizophrenia: Modeling the Interplay between Interleukin-1β C-511T Polymorphism, Metabolic Syndrome, and Sex

Introduction: Cognitive deficits and metabolic disturbances are among the main determinants of functional impairment and reduced life expectancy in patients with schizophrenia, and they may share underlying biological mechanisms. Among these, interleukin-1β (IL-1β), a key mediator of inflammatory response, is of particular interest. IL-1β C-511T polymorphism has been associated with neuropsychiatric conditions and, in the general population, with cognitive and metabolic alterations. This study aims to evaluate the effects of the IL-1β C-511T polymorphism on both cognition and metabolic syndrome in a sample of patients affected by schizophrenia, with a focus on sex differences. Methods: 138 patients with schizophrenia were assessed for metabolic parameters and neurocognitive measures by means of the Brief Assessment of Cognition Scale. The effects of IL-1β C-511T polymorphism on cognition and metabolic syndrome were evaluated in the context of general linear models. Results: The analysis showed a significant interaction between IL-1β genotype and sex on 2 core cognitive domains. In detail, among CC homozygous, females outperformed males on processing speed, while among T carriers, males outperformed females on executive functions. A significant interaction also emerged between metabolic syndrome, sex, and IL-1β genotype for executive functions, with worse performance for T carrier females with metabolic syndrome. No significant direct effect was observed for metabolic syndrome on cognition. Conclusion: These findings support the hypothesis that IL-1β polymorphism could play a key role in mediating the complex and refined relationship between metabolic syndrome and cognitive performance.

Interleukin-1β (IL-1β) C-511T polymorphism is associated with susceptibility to coronary artery disease in type 2 diabetic patients

Variants of the interleukin-1β (IL-1β) gene have been associated with type 2 diabetes (T2D) and coronary artery diseases (CAD). However, association of IL-1β polymorphisms with diabetic patients having CAD clinical manifestation has not been studied yet. In this study, we aim to decipher the role of IL-1β common promoter variants with susceptibility/resistance to development of CAD in T2D patients. T2D patients with (n = 134) or without CAD (n = 533) were enrolled. A total of 513 essentially healthy individuals from the same population were included in this study as control. Plasma levels of IL-1β were quantified by enzyme-linked immunosorbent assay (ELISA) kit as per instructions from the manufacturer. IL-1β promoter variants (T-31C and C-511T) were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). T2D patients displayed higher level of plasma IL-1β in comparison to healthy controls. Prevalence of variants for IL-1β (C-511T) polymorphism was higher in diabetic patients compared to controls (CT: P &lt; 0.0001, OR = 3.01; TT: P &lt; 0.0001, OR = 2.45). IL-1β (C-511T) polymorphism was linked with plasma IL-1β levels. Interestingly, heterozygous mutants (CT) were most prevalent in T2D individuals with CAD compared to those without CAD ( P = 0.03, OR = 1.82). Furthermore, low-density lipoprotein (LDL) and triglycerides were elevated in T2D patients with CAD than in patients without heart-related disorder. No significant association of other polymorphism (T-31C) was noticed with susceptibility to T2D or diabetic patients with heart disorders. IL-1β (C-511T) variants are associated with elevated plasma IL-1β levels. Mutation at the IL-1β promoter region (C-511T) predisposed subjects to the development of T2D and CAD manifestation in diabetic patients.

Polymorphisms of Cytokine Genes in Genital Endometriosis

Links between polymorphisms in cytokine genes and the development of genital endometriosis (GE) in women of reproductive age, its clinical manifestations, stages of progression, and efficacy of combined treatment were analyzed. Polymorphic variants of cytokine genes were identified by analysis of restriction fragment length polymorphisms (RFLP). Carriership of not only individual cytokine gene polymorphisms, i.e., the C-511T polymorphism of the IL1B gene (T allele), the T-330G polymorphism of the IL2 gene (G allele), the C-590T polymorphism of the IL4 gene (T allele), the G-174C polymorphism of the IL6 gene (C allele), the C-592A polymorphism of the IL10 gene (A allele and CA and AA genotypes), the G-308A polymorphism of the TNFA gene (A allele and AA genotype), and the C-590T polymorphism of the TGFB (T allele and CT genotype) gene, but also their combination, i.e., IL2GG/IL4CC/IL10CC/TNFAGG, was found to predispose to the development of GE. Carriership of the TT genotype of the IL1B C-511T polymorphism was found to predispose to the development of pelvic pain in GE and GE stages III–IV. Infertility in GE and the efficacy of its hormonal therapy were associated with carriership not of individual cytokine gene polymorphisms but with their combinations – IL2TT/IL4CC/IL10CC/TNFAGG and IL1CT/IL4CC/IL6GG/ IL10CC/TGFBCC, respectively.

Association of the CD14 C159T and the Toll-like receptor 4 Asp299Gly polymorphisms with various phenotypes of asthma in adults from Crimea.

Background: This study assessed gene polymorphisms of the CD14 receptor (C-159T) and Toll-like receptor 4 (Asp299Gly) in a patient population in Crimea, Ukraine, stratified by clinical (early versus late onset; frequent versus occasional relapses; fixed versus reversible obstruction) and immunologic (atopic versus nonatopic; eosinophilic; neutrophilic or paucigranulocytic inflammation) subtype. Methods: Two polymorphisms, CD14 C-159T and TLR4 Asp299Gly, were assessed in 331 patients with asthma. The control group included 285 volunteers who were nonatopic. The single nucleotide polymorphisms were studied by using polymerase chain reaction with electrophoretic detection. Results: There were increased odds of asthma development in patients with the Asp299Gly TLR4 mutation compared with the general population underdominant odds ratio (OR) 1.52 [95% confidence interval (CI), 1.00-2.32] and overdominant (OR 1.55 [95% CI, 1.01-2.38]) models after adjustment for gender and age. In addition, mutations in this gene decreased the odds of nonatopic asthma in underdominant (OR 0.26 [95% CI, 0.07-0.93]; p = 0.027), overdominant (OR 0.27 [95% CI, 0.07-0.96]; p = 0.033), and log-additive models (OR 0.26 [95% CI, 0.07-0.93]; p = 0.026) compared with the atopic subgroup after adjustment for gender, age, number of exacerbations, and type of airway inflammation. Allele frequencies for CD14 and TLR4 polymorphisms did not show statistical differences between the patients with asthma and the control subjects. Conclusion: CD14 C-159T polymorphisms were not associated with asthma in the adult population in Crimea. TLR4 Asp299Gly polymorphisms were associated with asthma and with decreased odds of nonatopic asthma compared with atopic asthma in the adult population in Crimea.

Association of Genes for Proinflammatory Cytokines and Depression

Objectives. To study the association between proinflammatory cytokines and depression. Materials and methods. The: IL-1β C-511T and TNF-α G-308A gene polymorphisms were studied in patients with diagnoses of “depression” (study group) and mentally healthy subjects of comparable sex and age (controls). Results and conclusions. An association between the IL-1β C-511T polymorphism and depression was found, where the variant with the risk of depression was the CC variant (p = 0.001, OR = 1.9, CI 1.3–2.7). An association was found between the TNF-α G-308A polymorphism and depression, where the risk variant was the GG genotype (p = 0.001, OR = 3.0, CI = 1.8–4.9). These data confirm the role of immune factors in the development of depression. The authors emphasize the role of the clinical polymorphism of depression, which makes it difficult to form homogeneous cohorts and to select phenotypes for biological studies.

Genetic factors associated with the predisposition to late onset Alzheimer's disease

BackgroundAlzheimer's disease is a progressive, irreversible neurodegenerative disorder characterized by loss of memory and cognitive skills. More than 90% of cases are sporadic and have later age of onset. Many studies have shown a genetic predisposition for late onset Alzheimer's disease (LOAD). The most studied genetic predisposition factor is apolipoprotein E gene besides other susceptibility genes involved in vascular pathologies, homocysteine metabolism, and neuronal growth and differentiation such as methylenetetrahydrofolate reductase (MTHFR), angiotensin-converting enzyme (ACE), APOB and brain derived neurotrophic factor (BDNF). MethodsIn this study Factor V Leiden (G1691A) and H1299R, prothrombin G20210A, Factor XIII V34L, B-fibrinogen -455G>A, PAI-1 5G/4G, HPA1 b/a, MTHFR C677T, MTHFR A1298C, APOE, ACE I/D, BDNF C270T and G196A polymorphisms were evaluated in 100 LOAD patients and 100 age matched healthy controls. ResultsAPOE4 allele, MTHFR CCA1298C and BDNF TTC270T genotypes were significantly higher in LOAD patients compared to the control group (p < 0.001, p = 0.04, p = 0.03, respectively). There were no significant associations between other genotypes and allele frequencies. Mini-Mental State Examination (MMSE) scores and age at onset of the patients were also evaluated for each and combined genotypes. Age at onset was significantly lowered by about approximately 4 and 5 years in patients carrying BDNF TTC270T and MTHFR TTC677T genotypes, respectively. ConclusionAPOE, MTHFR A1298C and BDNF C270T polymorphisms may be associated with LOAD and BDNF and MTHFR alleles may play a role in the age at onset of the LOAD.

Efficacy of Probiotic Therapy on Atopic Dermatitis in Adults Depends on the C-159T Polymorphism of the CD14 Receptor Gene - A Pilot Study.

BACKGROUND:The C-159T polymorphism of the CD14 receptor gene can be associated with the development of atopic dermatitis. Probiotics can modulate chronic inflammation through activation of the CD14 receptor. So, the efficacy of probiotic therapy can be dependent on this genetic polymorphism.AIM:The purpose of the study was to investigate the efficacy of adding probiotic (Lactobacillus acidophilus, LA-5 and Bifidobacterium animalis subsp. lactis, BB-12) to standard treatment (ointment of fluticasone propionate 0.005% and emollient) of atopic dermatitis in adults during 28 days, depending on the stratification of patients on CC or TT genotypes of the CD14 receptor gene.MATERIAL AND METHODS:The study included 37 adult patients with AD. There were identified 19 patients with exogenous (IgE-dependent) and 18 with endogenous (IgE-dependent) AD. To evaluate the efficacy of the probiotics all patients were divided into three groups for both exogenous and endogenous AD. The first group was selected from patients with CC genotype (C-159T) who received standard therapy (ointment of fluticasone propionate 0.005% – 2 times a day, emollients – 2 times a day) and probiotic (Lactobacillus acidophilus, LA-5 and Bifidobacterium animalis subsp. lactis, BB-12 - 1 capsule 2 times per day) The second group included patients with CC genotype, who received only standard therapy. The third group was presented by patients with TT genotype (C-159T) who received standard therapy and probiotic. The SCORAD and DLQI parameters were evaluated on Day 0, 14 and 28. The level of IL-4, IL-5, IL-10, TGF-β cytokines was determined on Day 0 and Day 28.RESULTS:The results of our study found that the addition of probiotics (Lactobacillus acidophilus, LA-5 and Bifidobacterium animalis subsp. lactis, BB-12) to standard treatment (ointment of fluticasone propionate 0.005%, emollient) significantly increased the effectiveness of treatment of atopic dermatitis in adults with exogenous form and CC genotype (C-159T), confirmed by clinical (a significant decrease of SCORAD and DLQI indices) and immunological criteria (a significant decrease of IL-4 and an increase of TGF-β).CONCLUSION:Simultaneous determination of the exogenous or endogenous form, identification of the C-159T genotypes, evaluation of the serum level of IL-4 and TGF-β can serve as an algorithm for the personalised treatment of patients with atopic dermatitis.

Effect of CD14 polymorphisms on the risk of cardiovascular disease: evidence from a meta-analysis

BackgroundCD14 polymorphisms are associated with an increased risk of cardiovascular events. So far, many studies have been conducted, whereas the results were not always consistent.Materials and methodsTwenty-six articles involving thirty-seven datasets were recruited to evaluate the association between rs2569190 (9413 patients and 7337 controls), C-159T (4813 patients and 2852 controls) polymorphisms and cardiovascular diseases in a meta-analysis. The random or fixed effect models were used to evaluate the pooled odds ratios (ORs) and their corresponding 95% confidence intervals.ResultsThe strongest association was observed between rs2569190 and CVD in overall population (T vs. C, OR = 1.169, 95% CI: 1.087–1.257, p = 2.44 × 10− 5). Analysis after stratification by ethnicity indicated that rs2569190 was related to CVD in East Asian population (T vs. C, OR = 1.370, 95% CI; 1.226–1.531, p = 2.86 × 10− 8) and a potential relationship in European (T vs. C, OR = 1.100, 95% CI: 1.019–1.189, p = 0.015). In the stratification of endpoints, the associations were found in CHD subgroup (T vs. C, OR = 1.357, 95% CI: 1.157–1.592, p = 2.47 × 10− 7) and in AMI subgroup (T vs. C, OR = 1.152, 95% CI: 1.036–1.281, p = 0.009). However, we did not find any association between C-159T polymorphism with cardiovascular disease under any model.ConclusionsThe SNP rs2569190 significantly contribute to susceptibility and development of cardiovascular disease, particularly in the East Asian population and in the subtype CHD group, in addition, a potential association was observed in the AMI group, T allele acts as a risk factor for cardiovascular disease.

Brain-derived Neurotrophic Factors Val66Met and C270T Polymorphisms Influence Citalopram/Escitalopram Response in Chinese Patients with Major Depressive Disorder

The aim of this study was to investigate the association between two brain-derived neurotrophic factor polymorphisms (Val66Met and C270T) and response to citalopram/escitalopram treatment. Chinese patients who met diagnostic and Statistical Manual of Mental Disorders criteria for major depressive disorder (n=180) were prescribed citalopram/escitalopram for 6 weeks. Depression severity was evaluated using the 17-item Hamilton rating scale for depression at baseline and week 2, 4, and 6 of treatment. The expression quantitative trait loci analysis was performed to investigate the functional effect of Val66Met and C270T on brain-derived neurotrophic factor expression in the brain and blood. A significant difference was found in genotype (χ2=6.979, p=0.031, correction p=0.062) but not allele (p>0.05) frequencies of Val66Met between responders and non-responders. Homozygous GG showed a higher response than other two genotypes (χ2=5.218, p=0.022, correction p=0.044). In addition, the C allele and CC genotype of C270T were significantly related to higher remission over 6 weeks among females (C/T, p=0.027, correction p=0.054; CC/TT, p=0.023, correction p=0.046) and first-episode major depressive disorder patients (C/T, p=0.023, correction p=0.046; CC/TT, χ2= 6.870, p=0.009, correction p=0.018). Further expression quantitative trait loci analysis showed that Val66Met and C270T have functional effect on brain-derived neurotrophic factor expression in the brain. Brain-derived neurotrophic factor Val66Met and C270T polymorphisms were associated with therapeutic response to citalopram/escitalopram in Chinese major depressive disorder patients.

Genetic Variants of the Brain-Derived Neurotrophic Factor and Metabolic Indices in Veterans With Posttraumatic Stress Disorder.

Posttraumatic stress disorder (PTSD) is a trauma and stressor related disorder that may develop after exposure to an event that involved the actual or possible threat of death, violence or serious injury. Its molecular underpinning is still not clear. Brain-derived neurotrophic factor (BDNF) modulates neuronal processes such as the response to stress, but also weight control, energy and glucose homeostasis. Plasma BDNF levels and a functional BDNF Val66Met (rs6265) polymorphism were reported to be associated with PTSD, as well as with increased body mass index (BMI) and dyslipidaemia in healthy subjects and patients with cardio-metabolic diseases, but these results are controversial. The other frequently studied BDNF polymorphism, C270T (rs56164415), has been associated with the development of different neuropsychiatric symptoms/disorders. As far as we are aware, there are no data on the association of BDNF Val66Met and C270T polymorphisms with metabolic indices in PTSD. Due to high rates of obesity and dyslipidaemia in PTSD, the aim of this study was to elucidate the association of BDNF Val66Met and C270T polymorphisms with BMI and lipid levels in veterans with PTSD. We hypothesized that BDNF variants contribute to susceptibility to metabolic disturbances in PTSD. The study included 333 Caucasian males with combat related PTSD, diagnosed according to DSM-5 criteria. Genotyping of the BDNF Val66Met and C270T polymorphisms was performed using the real-time PCR method. Results were analyzed using hierarchical multiple linear regression and the Mann–Whitney test, with p-value corrected to 0.005. The results showed that BDNF Val66Met and BDNF C270T polymorphisms were not significantly associated with BMI, total cholesterol, LDL-cholesterol, HDL-cholesterol or triglycerides. Although the BDNF C270T polymorphism was nominally associated only with HDL-cholesterol in veterans with PTSD, this significance disappeared after controlling for the effect of age. Namely, slightly higher plasma HDL values in T allele carriers, compared to CC homozygotes, were associated with differences in age. Our results, controlled for the critical covariates, revealed that BDNF Val66Met and C270T were not significantly associated with metabolic indices in veterans with PTSD and that these genetic variants do not contribute to susceptibility to metabolic disturbances in PTSD.

THE C-159T POLYMORPHISM OF THE CD-14 GENE AND CYTOKINE PROFILES IN ADULTS WITH ATOPIC DERMATITIS

Introduction A C-to-T transition has been identified at position 159 in the promoter region of the CD14 gene. This functional single-nucleotide polymorphism C-159T has been associated with high levels of IgE and allergy. Methods The C-159T polymorphism of CD-14 gene was studied in 96 patients with atopic dermatitis. The control group included 90 non-atopic volunteers. The single nucleotide polymorphism of C-159T was detected by PCR. The levels of total IgE and TNF-α, IL-2, Y-IF, IL-4, IL-5, IL-10, TGF-β cytokines in blood were detected by ELISA Patients and volunteers provided written informed consent for the genetic study. Results 34 patients had exogenous and 62 had endogenous atopic dermatitis. In the control group, the frequency distribution of genotypes (CC – 20 (22.2%), CT – 48 (53.3%), TT – 22 (24.5%)) was significantly different from those with atopic dermatitis (CC – 39 (40.6%), CT – 37 (38.5%), TT – 20 (20.9%), X2 = 7.45, p = 0.024). The prevalence of the CC genotype increases the risk (OR=1.798, p=0.043) of exogenous atopic dermatitis development being associated with high levels of total IgE, IL-5 and low IL-10, and TGF-β in blood. The risk of endogenous (OR=0.321, p=0.007) and exogenous (OR=0.484, p=0.045) atopic dermatitis development is decreased in CT and TT genotypes. Conclusions The risk of atopic dermatitis development in this Ukrainian population is increased with the prevalence of allele C and decreased with the allele T of the polymorphic region C-159T of the CD14 receptor.

INTERLEUKIN-4 SINGLE NUCLEOTIDE POLYMORPHISM C-590T POLYMORPHISMS IN RELATION TO ASTHMA

Background: Single nucleotide polymorphisms in the promoter regions of genes encoding for some interleukins may associate with occurrence of asthma. Objective: To investigate the association of single nucleotide polymorphisms of interleukin-4 (IL-4) (C-590T) and asthma. Methods: Forty-five patients with asthma and 40 apparently healthy subjects (represent the control group) were enrolled in this study. Blood samples were collected from both patients and controls. DNA was extracted from blood samples and gene fragments corresponding to IL-4 C-590T were amplified with specific primers using conventional PCR technique. Results: The heterozygote genotypes of IL-4 C-590T (CT) showed significant association with asthma (OR = 3.922, 95% CI= 1.153-13.339, P = 0.028). Conclusion: These results suggest the significance of IL-4 C-590T polymorphism as a risk factor for asthma. Keywords: Asthma, interleukin-4, polymorphism Citation: Gaidan, Abbas AA, Hassan MA, Hashim HM. Interleukin-4 single nucleotide polymorphism C-590T polymorphisms in relation to asthma. Iraqi JMS. 2018; Vol. 16(1): 51-56. doi: 10.22578/IJMS.16.1.8

C-159T поліморфізм гену CD14 та цитокіновий профіль при атопічному дерматиту у дорослих

C-159T поліморфізм гену CD14 та цитокіновий профіль при атопічному дерматиту у дорослих

The Analysis of Two BDNF Polymorphisms G196A/C270T in Chinese Sporadic Amyotrophic Lateral Sclerosis.

Amyotrophic lateral sclerosis (ALS) is an ethnically heterogeneous motor neuron disease that results from the selective death of motor neurons in the brain and spinal cord. Brain-derived neurotrophic factor (BDNF) is widely distributed across the central and peripheral nervous systems and plays neurotrophic and other physiological roles in various brain regions. Alterations of neurotrophin availability have been proposed as a pathogenic mechanism underlying ALS neurodegeneration. Several genetic studies have shown a significant association between schizophrenia, Alzheimer's disease, and Parkinson's disease and certain BDNF polymorphisms, specifically G196A (rs6265) and C270T (rs56164415). However, the relationship between the G196A and C270T polymorphisms and ALS has never been investigated. We hypothesized that sporadic ALS (sALS) and disease susceptibility could arise due to BDNF polymorphisms and investigated the relationship between ALS and the BDNF polymorphisms G196A and C270T in a large Chinese cohort. We demonstrate that the frequency of the CT genotype and of the C270T T allele was significantly higher in the ALS group than in controls, although G196A was not associated with sALS. These data provide the first demonstration that the BDNF C270T polymorphism may be a candidate susceptibility locus for sALS, at least in Han Chinese.

Association between the interleukin-1β C-511T polymorphism and periodontitis: a meta-analysis in the Chinese population.

The association between the interleukin-1 beta (IL-1β) C-511T (or rs16944) polymorphism and periodontitis remains inconclusive, even though there have been previous studies on this association. To assess the effects of IL-1β C-511T variants on the risk of development of periodontitis, a meta-analysis was performed in a single ethnic population. Studies, published up to December 2015, were selected for the meta-analysis from PubMed and Chinese databases. The associations were assessed with pooled OR and 95%CI. This meta-analysis identified 8 studies, including 1276 periodontitis cases and 1558 controls. Overall, a significant association between the IL-1β C-511T polymorphism and periodontitis was found in the Chinese population (TT vs CC: OR = 1.48, 95%CI = 1.19-1.85; TT + CT vs CC: OR = 1.50, 95%CI = 1.25-1.81; T vs C: OR = 1.33, 95%CI = 1.06-1.68). In the subgroup analyses based on geographical area(s), source of controls, and type of periodontitis, significant results were obtained for the association between IL-1β C-511T variants and periodontitis. Our meta-analysis indicated that the IL-1β C-511T polymorphism may be a genetic susceptibility factor for periodontitis in the Chinese population. This marker could be used to identify Chinese individuals at a high risk for periodontitis.

Association between interleukin-4 polymorphisms and risk of pre-eclampsia in a population of Chinese pregnant women.

Preeclampsia is a common disease unique to pregnant women, and its development involves many genetics l factors. IL-4 is an important regulatory factor of the Th2 cellular immune response, and plays an important role in the induction of placental growth. In this study, we investigated the relationship between IL-4 C-590T, C+33T and G-1098T polymorphisms and risk of pre-eclampsia in a population of pregnant women. A case-control study of 196 pregnant women with pre-eclampsia and 257 healthy controls was conducted. Genotyping of IL-4 C-590T, C+33T and G-1098T was performed by polymerase chain reaction-restriction fragment length polymorphism. We observed that the TT genotype, compared to the CC genotype, of IL-4 C-590T harbored a lower risk of pre-eclampsia; adjusted OR (95%CI) was 0.29 (0.11-0.81). The CT+TT genotype, compared to the CC genotype, harbored a lower risk of pre-eclampsia (adjusted OR = 0.50, 95%CI = 0.30-0.84) in the dominant model. In the recessive model, the TT genotype, compared to the CC+CT genotype, harbored a lower risk of pre-eclampsia (adjusted OR = 0.31, 95%CI = 0.11-0.86). However, no significant correlation was observed between the IL-4 C+33T and G-1098T polymorphisms and risk of pre-eclampsia in three genetic models. In conclusion, IL-4 C-590T polymorphism could be used as a predictive risk factor for pre-eclampsia.