Meta-analysis of association between cytokine gene polymorphisms and Behcet's disease risk

Liang, Yan; Xu, Wang‐Dong; Zhang, Min; Qiu, Lijuan; Ni, Jing; Wang, Xiaosong; Wen, Pengfei; Cen, Han; Leng, Rui‐Xue; Pan, Hai‐Feng; Ye, Dong-Qing

doi:10.1111/1756-185x.12221

Cited by 21 publications

(28 citation statements)

References 33 publications

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“…The data suggest significant evidence for publication bias in two comparisons (p=0.016 for IL-1R2 rs2310173 and p=0.035 for IL-23R rs7517847). Therefore, we used the ‘trim and fill’ method to adjust summary estimates for observed bias 26. The adjusted pooled OR and its 95% CI indicated no significant difference between the unadjusted and adjusted results, which indicated that the result of the meta-analysis was not changed due to publication bias.…”

Section: Resultsmentioning

confidence: 99%

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Association between cytokine gene polymorphisms and ankylosing spondylitis susceptibility: a systematic review and meta-analysis

Xia

Liang

Guo

et al. 2018

Postgraduate Medical Journal

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Purpose of the studyThe aim of this study was to perform a meta-analysis to derive precise estimation of the association of interleukin-23 receptor (IL-23R), IL-1 receptor 2 (IL-1R2), IL-12 beta (IL-12B), IL-10 and tumour necrosis factor (TNF)-α polymorphisms with ankylosing spondylitis (AS) susceptibility.Study designA systematic literature search was conducted to identify the relevant studies. Pooled OR with 95% CI was calculated to assess the strength of the association in a fixed or random-effects model.ResultsA total of 13 917 cases and 19 849 controls in 43 eligible studies were included in the meta-analysis. Seventeen single-nucleotide polymorphisms (SNPs) in the abovementioned five cytokine genes were evaluated. The results indicate that the nine SNPs (rs11209026, rs1004819, rs10489629, rs11465804, rs1343151, rs11209032, rs1495965, rs7517847, rs2201841) of IL-23R are associated with AS susceptibility in all study subjects in the allelic model. Moreover, stratification by ethnicity identified a significant association between seven SNPs of IL-23R and AS susceptibility in Europeans and Americans, but not in Asians. In addition, the IL-10–819 C/T and TNF-α−857 C/T polymorphisms also confer susceptibility to AS, especially in Asian population.ConclusionThe results suggested that the genetic susceptibility for AS is associated with the nine SNPs of IL-23R in overall population. In the subgroup analysis, significant associations were shown in European and American population, but not in Asian population. Our results also suggest that IL-10–819 C/T and TNF-α−857 C/T polymorphism might be associated with AS risk, especially in Asian population.

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Section: Resultsmentioning

confidence: 99%

“…Therefore, the meta-analysis can be a useful method for summarising the association between the gene polymorphisms with the diseases 26. In this study, we investigated the abovementioned cytokine gene polymorphisms and the pathogenesis of AS.…”

Section: Introductionmentioning

confidence: 99%

Association between cytokine gene polymorphisms and ankylosing spondylitis susceptibility: a systematic review and meta-analysis

Xia

Liang

Guo

et al. 2018

Postgraduate Medical Journal

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“…In fact, the TNF-α regulatory regions may play a role in cytokine production, and the binding of inducible cytoplasmatic factors may result in the translational blockade, leading to the dysregulated cytokine production. Genotype-phenotype correlation studies reported that G allele conferred two-fold lower effects on the transcription level than A allele [8][9][10][11][12][13][14][15][16][17][18][19][20][21]26].…”

Section: Genotyping Ofmentioning

confidence: 99%

“…The polymorphism was previously associated with increased susceptibility to and severity of rheumatoid arthritis, psoriatic arthritis, ankylosing spondylitis, inflammatory bowel disease, vitiligo, multiple sclerosis, cardiomyopathy and malignancies, as well as of pre-eclampsia and celiac disease. It was reported that patients with the AA genotype and inflammatory diseases who are treated with anti-TNFα therapies may be less likely to have improvement in symptoms as compared to patients with the GG genotype [8][9][10][11][12][13][14][15][16][17][18][19][20][21]. TNFα -308A…”

Section: Introductionmentioning

confidence: 99%

Correlation of tumor necrosis factor-α -308G>A polymorphism with susceptibility, clinical manifestations and severity in Behçet syndrome: evidences from an Italian genetic case-control study

Padula

Leccese

Lascaro

et al. 2019

Preprint

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Background The tumor necrosis factor (TNF)α is a multifunctional proinflammatory cytokine, implicated in a variety of diseases, including Behçet syndrome (BS), a rare vasculitis with a wide spectrum of clinical manifestations. The aim of the present study was to investigate the association between a functional drug-response TNFα gene polymorphism (at the positions of -308; rs1800629) and both disease susceptibility and clinical manifestations in a cohort of Italian BS patients compared with healthy controls (HC).Methods We recruited 130 Italian patients with BS consecutively seen at Rheumatology Institute of Lucania (Italy) and 100 ethnically, age and gender matched HC. Demographic and clinical features were retrieved by medical records. Specific primer pairs were designed for TNFα coverage. Genomic DNA isolation, primer-specific PCR amplification and direct sequencing were performed for genotyping our group of patients and controls. In silico analysis was downstream performed using Mutation Surveyor software (SoftGenetics, USA) and NCBI-BlastN on line tool for the query-subject similarity analysis.Results The genotype distribution of BS patients and HC underlined a higher percentage of wild-type GG genotype in BS patients group vs HC (106/130 patients, 81.5% vs 91/100 HC, 91%; p<0.05), while the heterozygous genotype (GA) was identified in 24/130 patients (18.5%) vs 9/100 HC (9%) (p<0.05). GA genotype was significantly associated with the disease (OR=2.29, 95% CI 1.01-5.18). No significant association was recognized between the SNP and the BS clinical manifestations, as well as with disease severity (Krause's index).Conclusions We found statistically significant higher frequency of TNFα rs1800629 GA genotype in patients than in controls. No significant association was recognized between the polymorphism and the clinical parameters, as well as between the SNP and the disease severity. Our data need to be confirmed in larger cohort of patients and matched controls.

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“…In addition to the well‐established human leukoctye antigen ( HLA ) locus, common polymorphisms in interleukin ( IL23R–IL12RB2 ) and IL10 have been recently associated with BD in two independent GWAS in Turkish and Japanese datasets and replicated in an Iranian sample and in a recent meta‐analysis . IL10 has a central role in the suppression of inflammatory cytokines inhibiting the costimulatory activity of macrophages for T‐cell and natural killer (NK)‐cell activation.…”

Section: Introductionmentioning

confidence: 99%

IL10 low‐frequency variants in Behçet's disease patients

et al. 2014

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Aim: To explain the missing heritability after the genome-wide association studies era, sequencing studies allow the identification of low-frequency variants with a stronger effect on disease risk. Common variants in the interleukin 10 gene (IL10) have been consistently associated with Behc ßet's disease (BD) and the goal of this study is to investigate the role of low-frequency IL10 variants in BD susceptibility.Methods: To identify IL10 low-frequency variants, a discovery group of 50 Portuguese BD patients were Sangersequenced in a 7.7 kb genomic region encompassing the complete IL10 gene, 0.9 kb upstream and 2 kb downstream, and two conserved regions in the putative promoter. To assess if the novel variants are BD-and/or Portuguese-specific, they were assayed in an additional group of BD patients (26 Portuguese and 964 Iranian) and controls (104 Portuguese and 823 Iranian).Results: Rare IL10 coding variants were not detected in BD patients, but we identified 28 known single nucleotide polymorphisms with minor allele frequencies ranging from 0.010 to 0.390, and five novel non-coding variants in five heterozygous cases. ss836185595, located in the IL10 3 0 untranslated region, was also detected in one Iranian control individual and therefore is not specific to BD. The remaining novel IL10 variants (ss836185596 and ss836185602 in intron 3, ss836185598 and ss836185604 in the putative promoter region) were not found in the replication dataset.Conclusion: This study highlights the importance of screening the whole gene and regulatory regions when searching for novel variants associated with complex diseases, and the need to develop bioinformatics tools to predict the functional impact of non-coding variants and statistical tests which incorporate these predictions.

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Meta-analysis of association between cytokine gene polymorphisms and Behcet's disease risk

Cited by 21 publications

References 33 publications

Association between cytokine gene polymorphisms and ankylosing spondylitis susceptibility: a systematic review and meta-analysis

Association between cytokine gene polymorphisms and ankylosing spondylitis susceptibility: a systematic review and meta-analysis

Correlation of tumor necrosis factor-α -308G>A polymorphism with susceptibility, clinical manifestations and severity in Behçet syndrome: evidences from an Italian genetic case-control study

IL10 low‐frequency variants in Behçet's disease patients

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Meta-analysis of association between cytokine gene polymorphisms and Behcet's disease risk

Cited by 21 publications

References 33 publications

Association between cytokine gene polymorphisms and ankylosing spondylitis susceptibility: a systematic review and meta-analysis

Association between cytokine gene polymorphisms and ankylosing spondylitis susceptibility: a systematic review and meta-analysis

Correlation of tumor necrosis factor-α -308G&gt;A polymorphism with susceptibility, clinical manifestations and severity in Behçet syndrome: evidences from an Italian genetic case-control study

IL10 low‐frequency variants in Behçet's disease patients

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Correlation of tumor necrosis factor-α -308G>A polymorphism with susceptibility, clinical manifestations and severity in Behçet syndrome: evidences from an Italian genetic case-control study