Association between CD40 rs1883832 and immune-related diseases susceptibility: A meta-analysis.
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ABSTRACT:
SUBMITTER: Qin J
PROVIDER: S-EPMC5731949 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:This meta-analysis aims to evaluate whether the CD40 rs1883832 polymorphism is associated with Graves' disease (GD) risk in different populations. We performed a systematic literature search in China National Knowledge Infrastructure (CNKI), Web of Science, and Pubmed databases to identify case-control association studies on the association between rs1883832 and GD risk. For each study we calculated the odds ratios (OR) and 95 % confidence intervals (CI) assuming dominant, recessive and homozygote models. We then calculated pooled ORs and 95 % CIs. After applying inclusion and exclusion criteria, 17 studies involving 4707 cases and 4215 controls were included in the meta-analysis. The results showed that rs1883832 was associated with GD risk in Asians under dominant (CT + TT vs CC, OR=0.67, 95 % CI: 0.56-0.81, P<0.001), recessive (TT vs CT + CC, OR=0.58, 95 % CI: 0.47-0.72, P<0.001), and homozygote (TT vs CC, OR=0.49, 95 % CI: 0.37-0.64, P<0.001) models. In Caucasians, rs1883832 was associated with GD risk under the dominant model (CT + TT vs CC, OR=0.82, 95 % CI: 0.68-0.99, P=0.042). Besides GD, we evaluated the relation of rs1883832 with Graves' ophthalmopathy (GO), finding that rs1883832 was associated with GO under the dominant model (CT + TT vs CC, OR=0.82, 95 % CI: 0.69-0.98, P=0.031). The findings of our meta-analysis suggest that the CD40 rs1883832 polymorphism is protective against GD and GO in Asians and Caucasians.
| S-EPMC6449683 | biostudies-literature
Project description:Sepsis is a severe and progressive disease characterized by systemic inflammatory response syndrome (SIRS). CD40 serves as a vital link between immune response and inflammation. This study was designed to investigate the potential association between a functional single-nucleotide polymorphism (SNP) of CD40 (rs1883832) and susceptibility to sepsis. We first performed a case-control study to explore the relationship between the CD40 rs1883832 polymorphism and sepsis. CD40 mRNA expression and protein expression were determined by real-time PCR and western blotting, respectively, in peripheral blood mononuclear cells (PBMCs) from sepsis patients and healthy controls. The plasma sCD40L levels in the two groups were measured by ELISA. The results showed that the frequencies of the TT genotype and the CD40 rs1883832 T allele were significantly higher in sepsis patients than in healthy controls. Plasma sCD40L levels were also significantly increased in sepsis patients. In addition, TT genotype carriers among sepsis patients displayed the highest CD40 expression at both the mRNA and protein levels, accompanied by the highest plasma sCD40L concentrations. In conclusion, the CD40 rs1883832 T allele acts as a risk factor for increased susceptibility to sepsis and may be involved in the process of sepsis through regulation of CD40 expression and plasma sCD40L levels.
| S-EPMC5892284 | biostudies-literature
Project description:BackgroundThe complications of atherosclerosis such as coronary and cerebrovascular disease, are the most prevalent causes of mortality and morbidity worldwide. A single nucleotide polymorphism (SNP) rs1883832 (-1C/T) in CD40 gene has been recently suggested to contribute to the susceptibility to atherosclerosis in Chinese population; however, previous genetic association studies yielded inconsistent results.MethodsA meta-analysis of eligible studies reporting the association between rs1883832 and atherosclerosis in Chinese population was carried out.ResultsPooling 7 eligible case-control studies involving 2129 patients and 1895 controls demonstrated a significant association between rs1883832 and atherosclerosis under dominant model [odds ratio (OR) = 1.631, 95% confidence interval [CI] [1.176, 2.260] in Chinese population with evident heterogeneity. Meta-regression analysis indicated that the heterogeneity could be completely explained by disease category. In subgroup analysis, rs1883832 conferred ORs of 2.866 (C/C versus T/T, 95%CI [2.203, 3.729]) and 1.680 (C/T versus T/T, 95%CI [1.352, 2.086]) for coronary artery disease (CAD) under co-dominant model without heterogeneity. Similar results were obtained for acute coronary syndrome (ACS) (C/C versus T/T, 3.674, 95%CI [2.638, 5.116]; C/T versus T/T, 1.981, 95%CI [1.483, 2.646]). The other genetic models including dominant, recessive and additive models, yielded consistent results without heterogeneity for CAD and ACS, respectively. However, a protective role was found for C allele in ischemic stroke (IS) under recessive model (0.582, 95%CI [0.393, 0.864]) and additive model (0.785, 95%CI [0.679, 0.909]) with reduced heterogeneity.ConclusionsThis meta-analysis provided evidence of association of rs1883832 C allele with an overall increased risk of atherosclerosis but distinct effect of C allele on CAD (including ACS) and IS in Chinese population, respectively.
| S-EPMC4020827 | biostudies-literature
Project description:BACKGROUND:Several studies have assessed the association between GDF5 rs143383 polymorphism and the susceptibility of musculoskeletal degenerative diseases, such as intervertebral disc degeneration (IDD) and osteoarthritis (OA), but the results are inconsistent. The aim of our study was to evaluate the association between them comprehensively. METHODS:A systematical search was conducted on PubMed, Scopus, Web of Science (WOS), Embase, and the Cochrane Library databases updated to April 20, 2018. Eligible studies about polymorphisms in GDF5 gene and risk of IDD or OA were included. Pooled odds ratios (ORs) and 95% confidence intervals (95% CIs) were utilized. RESULTS:Fifteen studies with a total of 5915 cases and 12,252 controls were finally included in our study. Meta-analysis of GDF5 rs143383 polymorphism was statistically associated with increased risk of musculoskeletal degenerative diseases under each genetic model (allele model: OR?=?1.32, 95% CI 1.19-1.48, P?=?0.000; homozygote model: OR?=?1.80, 95%CI 1.49-2.16, P?=?0.000; heterozygote model: OR?=?1.37, 95%CI 1.21-1.55, P?=?0.000; dominant model: OR?=?1.56, 95%CI 1.39-1.75, P?=?0.000; recessive model: OR?=?1.39, 95%CI 1.20-1.60, P?=?0.000). Stratified analyses based on disease type showed a significant association between the GDF5 rs143383 polymorphism and increased risk of IDD and OA under all genetic models studied. When stratified with ethnicity, pooled outcomes revealed that this polymorphism was significantly related with increased risk of musculoskeletal degenerative diseases in both Asian and Caucasian populations under all genetic models studied. CONCLUSIONS:The present study suggested that GDF5 rs143383 polymorphism was significantly associated with susceptibility to musculoskeletal degenerative diseases.
| S-EPMC6137727 | biostudies-literature
Project description:IntroductionThe aim of the present study was to investigate the possible role of CD40 and CD40 ligand (CD40LG) genes in the susceptibility and phenotype expression of systemic sclerosis (SSc).MethodsIn total, 2,670 SSc patients and 3,245 healthy individuals from four European populations (Spain, Germany, The Netherlands, and Italy) were included in the study. Five single-nucleotide polymorphisms (SNPs) of CD40 (rs1883832, rs4810485, rs1535045) and CD40LG (rs3092952, rs3092920) were genotyped by using a predesigned TaqMan allele-discrimination assay technology. Meta-analysis was assessed to determine whether an association exists between the genetic variants and SSc or its main clinical subtypes.ResultsNo evidence of association between CD40 and CD40LG genes variants and susceptibility to SSc was observed. Similarly, no significant statistical differences were observed when SSc patients were stratified by the clinical subtypes, the serologic features, and pulmonary fibrosis.ConclusionsOur results do not suggest an important role of CD40 and CD40LG gene polymorphisms in the susceptibility to or clinical expression of SSc.
| S-EPMC3446540 | biostudies-literature
Project description:PurposeThe -1237T/C polymorphism of the Toll-like receptor 9 (TLR9) gene has been implicated in the susceptibility of inflammatory bowel diseases (IBDs), but the results remain conflicting. We further investigated this association via meta-analysis.Materials and methodsMultiple electronic databases were extensively searched until February, 2015. The strength of association was evaluated by calculating the pooled odds ratios (ORs) and 95% confidence intervals (CIs).ResultsA total of 2987 cases and 2388 controls from eight studies were analyzed. Overall, association was found between TLR9 -1237T/C polymorphism and the risk of IBDs when all the studies were pooled (recessive model, OR: 1.59, 95% CI: 1.02-2.47, p=0.04; homozygote comparison, OR: 1.62, 95% CI: 1.04-2.52, p=0.03; allele model, OR: 1.13, 95% CI: 1.00-1.27, p=0.05). Stratification by ethnicity indicated an association between TLR9 -1237T/C polymorphism and IBDs risk in Caucasians (recessive model, OR: 1.59, 95% CI: 1.02-2.47, p=0.04; homozygote comparison, OR: 1.62, 95% CI: 1.04-2.52, p=0.03; allele model, OR: 1.12, 95% CI: 1.00-1.27, p=0.05). When stratified by disease type, significant correlation were only found in the Crohn's disease subgroup (recessive model, OR: 1.69, 95% CI: 1.05-2.73, p=0.03; homozygote model, OR: 1.74, 95% CI: 1.07-2.82, p=0.02; allele model, OR: 1.15, 95% CI: 1.01-1.32, p=0.04).ConclusionThe present study suggested that the TLR9 -1237T/C polymorphism might act as a risk factor in the development of IBDs, particularly in Caucasians.
| S-EPMC4696948 | biostudies-literature
Project description:Genetic variants are linked to vitiligo and associated autoimmune diseases. We performed a meta-analysis to evaluate the effects of the rs12150220, rs2670660, and rs6502867 polymorphisms within the human NLR Family Pyrin Domain Containing 1 (NLRP1) gene. We initially identified 1,306 candidate articles through literature searches of Pubmed, WOS, Embase, CNKI, WANFANGI, Ovid, Scopus, and Cochrane in July 2017. After strict screening, we included 19 eligible case-control studies, and analyzed the data using Stata/SE 12.0 software. No difference between vitiligo cases and controls was detected for NLRP1 rs12150220, rs2670660, or rs6502867 under most genetic models [Passociation (P value of association test) > 0.05). With regard to vitiligo-associated autoimmune diseases, like Addison's disease, type 1 diabetes, or systemic lupus erythematosus, a decreased risk was detected for rs12150220 in the Caucasian subgroup under all models [Passociation < 0.05, odds ratio (OR) < 1]. No relationships were observed for other polymorphisms, including rs2670660, rs6502867, and the "A-A, G-T, G-A, A-T" haplotypes of rs2670660/rs12150220 (Passociation > 0.05). This meta-analysis demonstrates that within the Caucasian population, the NLRP1 rs12150220 polymorphism may correlate with a decreased risk of vitiligo-associated autoimmune diseases, especially autoimmune Addison's disease, type 1 diabetes, or systemic lupus erythematosus.
| S-EPMC5675702 | biostudies-literature
Project description:The aim of this meta-analysis was to estimate the association between the FCGR2A rs1801274 polymorphism and the susceptibility to autoimmune diseases more precisely.A meta-analysis was conducted on the association between the FCGR2A gene variants and ADs by allelic contrast, homozygote contrast, the recessive model, and the dominant model.A total of 17 studies with 30 comparisons in different populations and genotype-methods were available for this meta-analysis, including 10 Kawasaki disease (KD), 7 Ulcerative colitis (UC), 6 Crohn's disease (CD), 3 Rheumatoid arthritis (RA), 2 Systemic lupus erythematosus (SLE), 1 Autoimmune thyroid disease (ATD) and 1 diabetes mellitus type 1 (T1D). A significant association between FCGR2A rs1801274 polymorphism were found in KD (OR = 1.409, P < 0.001) and UC (OR = 1.237, P < 0.001). A overall meta-analysis increased risk of AD significant association between FCGR2A rs1801274 gene polymorphism and ADs under allelic (OR = 1.378, P=0.000), homozygous (OR: 1.866, P=0.001), dominant (OR = 1.667, P = 0.000) and recessive (OR = 1.434, P=0.000) in Asian population. Meanwhile, a decreased risk of AD was detected in the allelic (OR= 0.882, P = 0.011), homozygous (OR = 0.777, P = 0.013), dominant (OR = 0.850, P = 0.032) and recessive (OR = 0.840, P = 0.048) in African-American population.This meta-analysis demonstrates that the FCGR2A rs1801274 G-allele confers susceptibility to KD and UC. Data also suggests that the FCGR2A rs1801274 polymorphism may be associated with the susceptibility of multiple ADs in Asian and African-American populations.
| S-EPMC5129943 | biostudies-literature
Project description:A number of studies have found that the single nucleotide polymorphisms (SNPs) within the 8q24 region of genome were associated with the susceptibility of prostate cancer. Association between 8q24 SNP variant rs1447295 and higher risk of prostate cancer had been investigated, but those studies were incomplete and the conclusions were obscure.To better elucidate the relationship between rs1447295 polymorphism and the susceptibility of prostate cancer, we performed a more comprehensive meta-analysis about the association between rs1447295 polymorphism and prostate cancer susceptibility by collecting relevant articles published up to November, 2016 and excluding many replicated cohort data existing in previous reports, which made the conclusion more reliant and objective.The results showed that there was a significant prostate cancer risk associated with rs1447295 polymorphism not only in the total groups, but also in American, European and Asian descent subgroups. Meanwhile, a comprehensive analysis about the association between rs1447295 polymorphism and prostate cancer risk were conducted by using different clinical characteristic stratifications including Gleason score, tumor stage and PSA level. The result showed that rs1447295 polymorphism was correlated with different stages of prostate cancer.There are strong association between rs1447295 polymorphism and prostate cancer susceptibility in different ethnic groups and different prostate cancer stage, suggesting that rs1447295 might serve as a reliable biomarker for prostate cancer diagnosis.
| S-EPMC5620154 | biostudies-literature
Project description:BackgroundMicrosomal epoxide hydrolase 1 (EPHX1) may play an important role in epigenetic change and DNA repair concerned with lung cancer. Several studies have investigated the association between EPHX1 rs1051740 and lung cancer risk, but there is no consensus. Therefore, we performed a meta-analysis to further identify the relationship.MethodsThe Pubmed and Embase databases were searched for eligible studies. An odds ratio (OR) with 95% confidence intervals (CIs) was used to assess the correlation between EPHX1 rs1051740 polymorphism and lung cancer risk through a meta-analysis.ResultsOverall, no significant relationship was found between EPHX1 rs1051740 and lung cancer risk (CC vs. TT: OR=1.10, 95% CI=0.88-1.36; CC+CT vs. TT: OR=1.02, 95% CI=0.88-1.18; CC vs. TT+CT: OR=1.08, 95% CI=0.91-1.27; C vs. T: OR=1.04, 95% CI=0.93-1.17; CT vs. TT: OR=0.98, 95% CI=0.85-1.13). Nevertheless, further subgroup analysis by ethnicity demonstrated that EPHX1 rs1051740 with CC genotype or C allele was an increased risk for lung cancer in Asians (CC vs. TT: OR=1.54, 95% CI=1.23-1.94; CC vs. TT+CT: OR=1.43, 95% CI=1.20-1.71; C vs. T: OR=1.26, 95% CI=1.08-1.47).ConclusionsThis meta-analysis indicates that EPHX1 rs1051740 with CC genotype or C allele may be a risk factor in Asians.
| S-EPMC4694288 | biostudies-literature