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PloS One 2014Transforming growth factor-beta (TGF-β1) gene has been regarded as an important mechanism in angiogenesis, endothelial cell proliferation, adhesion,and the deposition... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Transforming growth factor-beta (TGF-β1) gene has been regarded as an important mechanism in angiogenesis, endothelial cell proliferation, adhesion,and the deposition of extracellular matrix. The TGF-β1 gene may be involved in the development of diabetic retinopathy (DR) through disrupting angiogenesis. However, studies investigating the relationship between -509C/T and +869T/C(L10P) polymorphisms and DR yielded contradictory and inconclusive outcomes. In order to realize these ambiguous findings, a meta-analysis was performed to assess the association between the TGF-β1 gene polymorphisms and susceptibility to DR.
METHODOLOGY/PRINCIPAL FINDINGS
We conducted a search of all English reports on studies for the association between the TGF-β1 gene polymorphisms and susceptibility to DR using Medline, the Cochrane Library, EMbase, Web of Science, Google (scholar), and all Chinese reports were identified manually and on-line using CBMDisc, Chongqing VIP database, and CNKI database. The strict selection criteria and exclusion criteria were determined, and odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of associations. The fixed or random effect model was selected based on the heterogeneity test among studies. Publication bias was estimated using Begg's funnel plots and Egger's regression test.
RESULTS
A total of three studies were included in the meta-analysis and all included studies analyzed patients with type 2 diabetes. For +869T/C(L10P) polymorphism, significant association was observed in an allele model (L versus P: OR = 1.34, 95%CI = 1.03-1.73) and the recessive model (LL versus LP+PP: OR = 1.70, 95%CI = 1.13-2.56). As regards -509C/T polymorphism, no obvious associations were found for all genetic models.
CONCLUSIONS
This meta-analysis suggested that the +869T/C(L10P) polymorphism in TGFβ1 gene would be a potential protect factor for DR. However, the -509C/T polymorphism is not associated with DR.
Topics: Diabetic Retinopathy; Genetic Predisposition to Disease; Humans; Polymorphism, Genetic; Transforming Growth Factor beta1
PubMed: 24710116
DOI: 10.1371/journal.pone.0094160 -
Cytokine Dec 2023Toll-like receptor 2 (TLR2) is a crucial factor in the development of tuberculosis. However, no studies have explored the association between TLR2 polymorphisms and... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Toll-like receptor 2 (TLR2) is a crucial factor in the development of tuberculosis. However, no studies have explored the association between TLR2 polymorphisms and tuberculosis susceptibility.
OBJECTIVES
This study aimed to explore the correlation between tuberculosis susceptibility and TLR2 polymorphisms (rs3804099, rs3804100, rs1898830, rs5743708, rs121917864, and (-196-174) del).
METHODS
All relevant online databases including PubMed, CNKI, WANFANG DATA, and METSTR-FMRS were systematically searched. STATA17.0 (Stata Corp LP, College Station, Texas, USA) was used.
RESULTS
A total of 37 studies, covering six polymorphisms and comprising 9,474 cases and 10,295 controls, were included in this analysis. rs3804099(C vs T: OR = 1.00, 95 % CI: 0.93-1.08, CC + TC vs TT: OR = 1.04, 95 % CI: 0.98-1.10), rs3804100 (C vs T: OR = 1.19, 95 % CI: 0.93-1.07, CC + TC vs TT: OR = 0.97, 95 % CI: 0.89-1.06), rs1898830(G vs A: OR = 0.90, 95 % CI: 0.81-1.00, GG + AG vs AA: OR = 0.87, 95 % CI: 0.67-1.12), (-196 ∼174) del polymorphism (Del vs Ins: OR = 0.93,95 % CI: 0.76-1.14, DD + DI vs II: OR = 0.92,95 % CI: 0.72-1.17).
CONCLUSIONS
This study indicated that only the TLR2 rs5743708 polymorphism exhibited a significant association with a higher tuberculosis risk, while TLR2 rs3804099, rs3804100, rs1898830, rs121917864, and (-196-174) del polymorphisms were not associated with tuberculosis susceptibility.
Topics: Humans; Toll-Like Receptor 2; Genetic Predisposition to Disease; Polymorphism, Genetic; Tuberculosis; Polymorphism, Single Nucleotide
PubMed: 37883839
DOI: 10.1016/j.cyto.2023.156405 -
Cancer Epidemiology, Biomarkers &... Dec 2014Both targeted and genome-wide studies have revealed genetic associations for susceptibility, prognosis, and treatment-induced secondary malignancies and toxicities in... (Review)
Review
Both targeted and genome-wide studies have revealed genetic associations for susceptibility, prognosis, and treatment-induced secondary malignancies and toxicities in classical Hodgkin lymphoma (cHL). This review gives a systematic and comprehensive overview of significant associations and places them into a biologic context. The strongest susceptibility polymorphisms have been found for the human leukocyte antigen (HLA) genes. These associations are specific for cHL overall or for subgroups based on tumor cell Epstein-Barr virus (EBV) status. These findings strongly suggest that EBV-specific immune responses influence cHL susceptibility in EBV(+) cHL and that immune responses targeting other tumor-associated antigens are important in EBV(-) cHL. Accordingly, most of the numerous other susceptibility loci map to genes that affect functionality of the immune system, underscoring the crucial role of the immune system in cHL development. The number of association studies on cHL prognosis is limited with one consistent association for the drug-metabolizing UGT1A1 gene. PRDM1 is associated with radiation-induced secondary malignancies and a small number of genes are associated with treatment-related toxicities. In conclusion, most loci showing genetic associations in cHL harbor genes with a potential functional relevance for cHL susceptibility.
Topics: Disease Susceptibility; Hodgkin Disease; Humans; Prognosis
PubMed: 25205514
DOI: 10.1158/1055-9965.EPI-14-0683 -
Journal of Clinical Periodontology Dec 2013Matrix metalloproteinase-1 promoter -1607 1G/2G (rs1799750) polymorphism have been shown to confer genetic susceptibility to chronic periodontitis (CP), but the results... (Meta-Analysis)
Meta-Analysis Review
AIM
Matrix metalloproteinase-1 promoter -1607 1G/2G (rs1799750) polymorphism have been shown to confer genetic susceptibility to chronic periodontitis (CP), but the results are inconsistent.
MATERIALS AND METHODS
A meta-analysis and systematic review was performed to accomplish a more precise estimation of the relationship.
RESULTS
Pooled estimates revealed that there was no significant association between this polymorphism and CP risk in Caucasian and Asian populations. In addition, it was reported by three Brazilian studies that no significant association was found for this polymorphism with CP risk in a Brazilian mixed population. Besides, there was no significant association of this polymorphism with mild to moderate and severe CP risk in both Caucasian and Asian populations. Moreover, both non-smokers and smokers did not have a significant association between this polymorphism and susceptibility to CP in Caucasian population.
CONCLUSIONS
Matrix metalloproteinase-1 promoter -1607 1G/2G (rs1799750) polymorphism may have no effect on the disease susceptibility of CP in Caucasian, Asian and Brazilian mixed populations. Besides, this polymorphism may not play a direct role in severity of CP among both Caucasian and Asian populations, and between this polymorphism and smoking there may be no interactions to be associated with CP risk in Caucasian population.
Topics: Asian People; Brazil; Chronic Periodontitis; Ethnicity; Genetic Predisposition to Disease; Guanine; Humans; Matrix Metalloproteinase 1; Polymorphism, Genetic; Promoter Regions, Genetic; White People
PubMed: 24134675
DOI: 10.1111/jcpe.12166 -
Pediatric Cardiology Feb 2018This systematic review and meta-analysis aimed to better elucidate the roles of genetic factors in Kawasaki disease (KD), and determine the potential genetic biomarkers... (Meta-Analysis)
Meta-Analysis Review
This systematic review and meta-analysis aimed to better elucidate the roles of genetic factors in Kawasaki disease (KD), and determine the potential genetic biomarkers of KD. The systematic literature search of PubMed, Medline, Embase, Web of Science and CNKI identified 164 eligible studies. The qualitative synthesis revealed that 62 genes may be correlated with the susceptibility to KD, and 47 genes may be associated with the incidence of coronary artery lesions (CALs) in KD. A total of 53 polymorphisms in 34 genes were investigated in further quantitative synthesis. Of these, 23 gene polymorphisms were found to be significantly correlated with KD susceptibility, and 10 gene polymorphisms were found to be significantly associated with the incidence of CALs in KD. In conclusion, our findings indicate that gene polymorphisms of ACE, BLK, CASP3, CD40, FCGR2A, FGβ, HLA-E, IL1A, IL6, ITPKC, LTA, MPO, PD1, SMAD3, CCL17 and TNF may affect KD susceptibility. Besides, genetic variations in BTNL2, CASP3, FCGR2A, FGF23, FGβ, GRIN3A, HLA-E, IL10, ITPKC and TGFBR2 may serve as biomarkers of CALs in KD.
Topics: Child; Child, Preschool; Coronary Artery Disease; Fibroblast Growth Factor-23; Genetic Association Studies; Genetic Markers; Genetic Predisposition to Disease; Humans; Mucocutaneous Lymph Node Syndrome; Mutation; Polymorphism, Genetic
PubMed: 29098351
DOI: 10.1007/s00246-017-1760-0 -
Inflammation Research : Official... Oct 2020It has comprehensively been acknowledged that a genetic contribution, especially in immune inflammatory players, such as interleukin (IL)-6 and tumor necrosis factor... (Meta-Analysis)
Meta-Analysis
BACKGROUND
It has comprehensively been acknowledged that a genetic contribution, especially in immune inflammatory players, such as interleukin (IL)-6 and tumor necrosis factor (TNF)-α, are critically involved in the pathophysiology of coronary artery disease (CAD). This meta-analysis study aimed to reach a conclusive understanding of the role of genetic polymorphisms, including IL6 gene C572G (rs1800796) and G174C (rs1800795) as well as TNFA gene G238A (rs361525) and G308A (rs1800629) in susceptibility to CAD.
METHODS
Two major databases, namely MEDLINE and Scopus, were searched to find the studies surveying the mentioned polymorphisms and CAD susceptibility up to July 2020. Association comparison between the polymorphisms and CAD susceptibility were assessed using pooled odds ratio (OR) and their corresponding 95% confidence interval (CI).
RESULTS
This meta-analysis study was conducted on 69 papers (73 population studies), comprising 5062 patients and 8446 controls for IL6 gene rs1800796 (17 studies), 13801 patients and 16215 controls for IL6 gene rs1800795 (38 studies), 1439 patients and 2850 controls for TNFA gene rs361525 (5 studies), and 5051 patients and 3958 controls for TNFA gene rs1800629 (13 studies), according to inclusion and exclusion criteria. There were statistically positive association between all genetic comparisons of IL6 gene rs1800795 polymorphism and the CAD risk. Moreover, the recessive model (CC vs. CG + GG) in IL6 gene rs1800796 polymorphism had marginally significant association with decreased risk of CAD. None of the TNFA gene polymorphisms were associated with CAD risk.
CONCLUSIONS
The meta-analysis revealed the positive association of IL6 gene rs1800795 polymorphism in susceptibility to CAD.
Topics: Coronary Artery Disease; Cytokines; Genetic Predisposition to Disease; Humans; Inflammation; Polymorphism, Single Nucleotide
PubMed: 32719924
DOI: 10.1007/s00011-020-01385-3 -
European Journal of Cancer (Oxford,... Mar 2013Growing studies revealed the association between polymorphisms in Toll-like receptor 4 (TLR4) and susceptibility to cancer, however, the results remained inconsistent.... (Review)
Review
Growing studies revealed the association between polymorphisms in Toll-like receptor 4 (TLR4) and susceptibility to cancer, however, the results remained inconsistent. To assess the effect of six selected SNPs (rs1927914, rs4986790, rs4986791, rs11536889, rs1927911 and rs2149356) in TLR4 on cancer, we conducted a meta-analysis, up to February 2012, 22 case-control studies were available. Summary odds ratios (OR) and corresponding 95% confidence intervals (CIs) for polymorphisms in TLR4 and cancer risk were estimated. Our meta-analysis identified that two SNPs (rs4986790 and rs4986791) in TLR4 were associated with increased cancer risk (for rs4986790: OR=1.24, 95% CI=1.01-1.52 in dominant model; OR=1.24, 95% CI=1.02-1.52 in overdominant model; for rs4986791: OR=1.81, 95% CI=1.18-2.77 in allele comparison; OR=1.79, 95% CI=1.15-2.80 in dominant model; OR=1.70, 95% CI=1.09-2.67 in overdominant model) and one SNP (rs1927911) in TLR4 was associated with decreased cancer risk (for rs1927911: OR=0.63, 95% CI=0.41-0.99 in allele comparison; OR=0.57, 95% CI=0.35-0.95 in dominant model; OR=0.67, 95% CI=0.46-0.97 in codominant model). Moreover, in terms of stratified analyses by cancer type for SNP rs4986790, significantly elevated risk was observed to be associated with G allele in gastric cancer and 'other cancers'. These findings indicate that polymorphisms in TLR4 may play a role, although modest, in cancer development.
Topics: Case-Control Studies; Genetic Predisposition to Disease; Humans; Meta-Analysis as Topic; Neoplasms; Polymorphism, Single Nucleotide; Prognosis; Review Literature as Topic; Toll-Like Receptor 4
PubMed: 23084080
DOI: 10.1016/j.ejca.2012.09.022 -
Biochemical Genetics Aug 2021Several studies have noted that vitamin D receptor (VDR) gene polymorphisms are involved in the susceptibility to Coronary artery disease (CAD). Nonetheless, the results... (Meta-Analysis)
Meta-Analysis Review
Several studies have noted that vitamin D receptor (VDR) gene polymorphisms are involved in the susceptibility to Coronary artery disease (CAD). Nonetheless, the results have been inconclusive. Here, we performed the most up-to-date analysis of the association between VDR gene polymorphisms and risk of CAD. We conducted a comprehensive systematic search in the major electronic database, including Scopus and PubMed to look up for relevant studies evaluating the association between the VDR gene FokI (rs2228570), TaqI (rs731236), BsmI (rs1544410), and ApaI (rs7975232) polymorphisms and susceptibility to CAD published before December 2019. The level of association between VDR gene polymorphisms and susceptibility to CAD in the polled analysis was calculated by odds ratio (OR) and the corresponding 95% confidence interval (CI). We found 14 articles containing 20,398 cases and 9371 controls. The analysis revealed that all genetic models in the FokI SNP were associated with increased risk of CAD. Furthermore, for the ApaI SNP, except recessive model, all other genetic models significantly increased the risk of CAD in the overall analysis. In addition, it was divulged that both FokI and ApaI SNPs were involved in increasing the risk of CAD in Asians and Europeans in a number of models. FokI and ApaI polymorphisms may confer a susceptibility genetic risk factor for development of CAD, particularly in the Asian population.
Topics: Coronary Artery Disease; Genetic Predisposition to Disease; Humans; Odds Ratio; Polymorphism, Single Nucleotide; Receptors, Calcitriol; Risk Factors
PubMed: 33590380
DOI: 10.1007/s10528-021-10038-x -
Medical Science Monitor : International... Feb 2019BACKGROUND Metabolic related nonalcoholic fatty liver disease (NAFLD) is one of the most prevalent chronic liver diseases around the world. A single nucleotide... (Meta-Analysis)
Meta-Analysis
BACKGROUND Metabolic related nonalcoholic fatty liver disease (NAFLD) is one of the most prevalent chronic liver diseases around the world. A single nucleotide polymorphism (SNP) rs1501299 (+276G>T) in the adiponectin gene has been recently revealed to be responsible for susceptibility to NAFLD. This meta-analysis intended to assess the association risk of NAFLD and rs1501299 polymorphism. MATERIAL AND METHODS We conducted a literature search on PubMed, Embase, and Cochrane Library databases. All involved studies were selected based on our search criteria. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to quantify the strength of the association. Subgroup analysis considered the effects of ethnicity, subject scope, and source of control. Publication bias was assessed by Begg's tests. RESULTS Eight qualified case-control studies with 1639 patients and 1426 controls demonstrated a significant correlation between rs1501299 polymorphism in adiponectin and NAFLD under the dominant model (OR=1.18, 95% CI=1.02-1.36), allelic contrast (OR=1.21, 95% CI=1.09-1.36), homozygote comparison (OR=1.63, 95% CI=1.26-2.01) and the recessive allele model (OR=1.58, 95% CI=1.23-2.02) with evident heterogeneity. No association was observed between the risk of NAFLD and the genotypic variants in heterozygote comparison (OR=1.11, 95% CI=0.95-1.29) without heterogeneity. Subgroup analysis suggested that the sample size could be the potential source of heterogeneity. Source of control was not the reason for between-study heterogeneity and further sensitivity analysis and publication bias revealed good consistency and symmetry in the pooling studies. CONCLUSIONS Results from our current meta-analysis gave insight into the correlation between rs1501299 polymorphism and the risk of NAFLD, indicating the variant of rs1501299 might be related to increased NAFLD susceptibility.
Topics: Adiponectin; Alleles; Asian People; Case-Control Studies; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Non-alcoholic Fatty Liver Disease; Odds Ratio; Polymorphism, Single Nucleotide; Publication Bias; Risk Factors; White People
PubMed: 30735485
DOI: 10.12659/MSM.912737 -
World Journal of Surgical Oncology Apr 2022Numerous case-control studies have reported associations between interleukin-17 (IL-17) polymorphisms and colorectal cancer; however, the results were inconsistent. The... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Numerous case-control studies have reported associations between interleukin-17 (IL-17) polymorphisms and colorectal cancer; however, the results were inconsistent. The aim of this meta-analysis was to further clarify the effects of IL-17 polymorphisms on colorectal cancer susceptibility.
MATERIALS AND METHOD
Relevant studies were extracted from the electronic databases PubMed, Embase, Web of Science, China National Knowledge Infrastructure (CNKI), and the Chinese Biomedical Literature Database (CMB) up to April 2021. The odds ratio and 95% confidence interval were used to estimate the strength of the associations.
RESULTS
Ten articles including 2599 cases and 2845 controls were enrolled in our research after strict literature screening. Highly significant associations between the IL-17A rs2275913 polymorphism and increased colorectal cancer susceptibility were observed in all five gene models (allelic, dominant, recessive, homozygous, and heterozygous models), and subgroup analysis based on ethnicity revealed that these associations existed not only in the Asian population but also in the Caucasian population. However, the results showed no significantly elevated colorectal cancer risk correlated with the IL-17F rs763780 polymorphism, and a slightly lower colorectal cancer susceptibility for the Caucasian population was discovered in the recessive and homozygous models of this mutation.
CONCLUSION
The IL-17A rs2275913 polymorphism may be an independent risk factor contributing to colorectal cancer susceptibility, while the IL-17F rs763780 polymorphism may decrease susceptibility to colorectal cancer. Future studies with large-scale samples are warranted to identify these associations.
Topics: Humans; Case-Control Studies; Colorectal Neoplasms; Genetic Predisposition to Disease; Interleukin-17; Polymorphism, Single Nucleotide
PubMed: 35410225
DOI: 10.1186/s12957-022-02586-2