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International Ophthalmology Jan 2022Diabetic retinopathy (DR) is a medical condition caused by damage to the blood vessels of retina tissue due to diabetes mellitus. DR leads to injury in neural and... (Meta-Analysis)
Meta-Analysis Review
INTRODUCTION
Diabetic retinopathy (DR) is a medical condition caused by damage to the blood vessels of retina tissue due to diabetes mellitus. DR leads to injury in neural and vascular structures and is reported to be significantly influenced by inflammation and inflammatory mediators like cytokines. In this study, a systematic review and meta-analysis were performed to analyze the association between cytokine gene polymorphisms and DR.
METHODS
We identified relevant studies from Scopus, PubMed, and Google scholar databases. Allele and genotype frequencies were pooled. Heterogeneity and publication bias were explored. The odds ratio (OR) and corresponding 95% confidence intervals (CIs) were calculated to estimate the relation.
RESULTS
A total of 3337 cases and 4945 controls in 19 eligible studies were included in the meta-analysis. Overall, results indicated the negative association between the cytokine gene polymorphisms and DR susceptibility in the allelic model (IFN-γ (rs2430561): OR 0.64, [CI]: 0.5 to 0.82; and TGF-β (rs1800471): [OR] = 0.15, [CI]: 0.03 to 0.79); and also, in the dominant model (IFN-γ (rs2430561): OR = 0.4, [CI]: 0.22 to 0.75; and TGF-β (rs1800471): OR = 0.14, [CI]: 0.05 to 0.4).
CONCLUSION
The present study suggests that IFN-γ (rs2430561) and TGF-β (rs1800471) polymorphisms are associated with decreased susceptibility to DR.
Topics: Cytokines; Diabetes Mellitus; Diabetic Retinopathy; Genetic Predisposition to Disease; Genotype; Humans; Polymorphism, Genetic; Polymorphism, Single Nucleotide
PubMed: 34432176
DOI: 10.1007/s10792-021-02011-9 -
Gene Aug 2020The goal of our study is to investigate the contribution of the 13 single-nucleotide polymorphisms to inflammatory bowel disease (IBD), including Crohn's disease (CD)... (Meta-Analysis)
Meta-Analysis
AIMS
The goal of our study is to investigate the contribution of the 13 single-nucleotide polymorphisms to inflammatory bowel disease (IBD), including Crohn's disease (CD) and Ulcerative colitis (UC).
METHODS
A total of 44 articles were retrieved from bibliographic databases including PubMed, Embase, SpingerLink, Web of Science, Chinese National Knowledge Infrastructure (CNKI), and Wanfang. Through a comprehensive filtering procedure, 13 single-nucleotide polymorphisms were collected in the meta-analysis, which was done by Review Manager 5.0.
RESULTS
After a systematic filtration, there were 13 single-nucleotide polymorphisms (SNPs) from 44 articles involved in our meta-analysis. Our results demonstrated that 3 SNPs were found to be significantly associated with CD/UC/IBD: IRF5 rs4728142 (UC: OR = 1.21, 95% CI = 1.09-1.35, P = 0.0003; OR = 1.30, 95% CI = 1.08-1.57, P = 0.006 in Asian), PTGER4 rs4613763 (CD: the overall OR = 1.28, 95% CI = 1.01-1.64, P = 0.04; IBD: OR = 1.31, 95% CI = 1.04-1.65, P = 0.02), IL12B rs6887695 (CD: the overall OR = 1.17, 95% CI = 1.06-1.30, P = 0.002; UC: the overall OR = 1.13, 95% CI = 1.01-1.26, P = 0.03; IBD: the overall OR = 1.15, 95% CI = 1.06-1.24, P = 0.0009).
CONCLUSION
Our meta-analyses have indicated the significant associations between SNPs (IRF5 rs4728142, PTGER4 rs4613763, and IL12B rs6887695) and CD/UC/IBD.
Topics: Asian People; Case-Control Studies; Colitis, Ulcerative; Crohn Disease; Disease Susceptibility; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Humans; Inflammatory Bowel Diseases; Interferon Regulatory Factors; Interleukin-12 Subunit p40; Phenotype; Polymorphism, Single Nucleotide; Receptors, Prostaglandin E, EP4 Subtype; White People
PubMed: 32464244
DOI: 10.1016/j.gene.2020.144814 -
BMC Infectious Diseases Nov 2023Persons with non-O and Rh-positive blood types are purported to be more susceptible to infection, including SARS-CoV-2, but there remains uncertainty about the degree to... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Persons with non-O and Rh-positive blood types are purported to be more susceptible to infection, including SARS-CoV-2, but there remains uncertainty about the degree to which this is so for both non-viral and viral infections.
METHODS
We systematically reviewed Embase and PubMed from January 1 1960 to May 31 2022. English-language publications were selected that separately investigated the relation between ABO and/or Rh blood group and risk of SARS-CoV-2 and non-SARS-CoV-2 infection. Pooled odds ratios (OR) and 95% confidence intervals (CI) were then generated for each.
RESULTS
Non-O blood groups had a higher OR for SARS-CoV-2 than O blood groups, both within 22 case-control studies (2.13, 95% CI 1.49- 3.04) and 15 cohort studies (1.89, 95% CI 1.56- 2.29). For non-SARS-CoV-2 viral infections, the respective OR were 1.98 (95% CI 1.49-2.65; 4 case-control studies) and 1.87 (95% CI 1.53-2.29; 12 cohort studies). For non-viral infections, the OR were 1.56 (95% CI 0.98-2.46; 13 case-control studies) and 2.11 (95% CI 1.67-6.67; 4 cohort studies). Rh-positive status had a higher OR for SARS-CoV-2 infection within 6 case-control studies (13.83, 95% CI 6.18-30.96) and 6 cohort studies (19.04, 95% CI 11.63-31.17), compared to Rh-negative persons. For Rh status, non-SARS-CoV-2 infections, the OR were 23.45 (95% CI 16.28-33.76) among 7 case-control studies, and 9.25 (95% CI 2.72-31.48) within 4 cohort studies. High measures of heterogeneity were notably observed for all analyses.
CONCLUSIONS
Non-O and Rh-positive blood status are each associated with a higher risk of SARS-CoV-2 infection, in addition to other viral and non-viral infections.
Topics: Humans; COVID-19; SARS-CoV-2; Case-Control Studies; Disease Susceptibility; Blood Group Antigens
PubMed: 37964217
DOI: 10.1186/s12879-023-08792-x -
Postgraduate Medical Journal Sep 2018The 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... (Meta-Analysis)
Meta-Analysis Review
PURPOSE OF THE STUDY
The 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 DESIGN
A 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.
RESULTS
A 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.
CONCLUSION
The 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.
Topics: Cytokines; Genetic Predisposition to Disease; Humans; Polymorphism, Single Nucleotide; Spondylitis, Ankylosing
PubMed: 30322951
DOI: 10.1136/postgradmedj-2018-135665 -
International Journal of Epidemiology Aug 2022To summarize modifiable factors for coronavirus disease 2019 (COVID-19) suggested by Mendelian randomization studies.
BACKGROUND
To summarize modifiable factors for coronavirus disease 2019 (COVID-19) suggested by Mendelian randomization studies.
METHODS
In this systematic review, we searched PubMed, EMBASE and MEDLINE, from inception to 15 November 2021, for Mendelian randomization studies in English. We selected studies that assessed associations of genetically predicted exposures with COVID-19-related outcomes (severity, hospitalization and susceptibility). Risk of bias of the included studies was evaluated based on the consideration of the three main assumptions for instrumental variable analyses.
RESULTS
We identified 700 studies through systematic search, of which 50 Mendelian randomization studies were included. Included studies have explored a wide range of socio-demographic factors, lifestyle attributes, anthropometrics and biomarkers, predisposition to diseases and druggable targets in COVID-19 risk. Mendelian randomization studies suggested that increases in smoking, obesity and inflammatory factors were associated with higher risk of COVID-19. Predisposition to ischaemic stroke, combined bipolar disorder and schizophrenia, attention-deficit and hyperactivity disorder, chronic kidney disease and idiopathic pulmonary fibrosis was potentially associated with higher COVID-19 risk. Druggable targets, such as higher protein expression of histo-blood group ABO system transferase (ABO), interleukin (IL)-6 and lower protein expression of 2'-5' oligoadenylate synthetase 1 (OAS1) were associated with higher risk of COVID-19. There was no strong genetic evidence supporting the role of vitamin D, glycaemic traits and predisposition to cardiometabolic diseases in COVID-19 risk.
CONCLUSION
This review summarizes modifiable factors for intervention (e.g. smoking, obesity and inflammatory factors) and proteomic signatures (e.g. OAS1 and IL-6) that could help identify drugs for treating COVID-19.
Topics: Brain Ischemia; COVID-19; Genetic Predisposition to Disease; Genome-Wide Association Study; Humans; Mendelian Randomization Analysis; Obesity; Polymorphism, Single Nucleotide; Proteomics; Risk Factors; Stroke
PubMed: 35445260
DOI: 10.1093/ije/dyac076 -
PloS One 2020Epidemiological differences between men and women have been reported with regards to sepsis, influenza and severe coronavirus infections including SARS-CoV and MERS-CoV.
BACKGROUND
Epidemiological differences between men and women have been reported with regards to sepsis, influenza and severe coronavirus infections including SARS-CoV and MERS-CoV.
AIM
To systematically review the literature relating to men versus women on SARS-CoV-2 in order to seek differences in disease characteristics (e.g. infectivity, severity) and outcomes (e.g. mortality).
METHODS
We searched 3 electronic databases up or observational studies reporting differences between men and women in the SARS-CoV-2 disease characteristics stated. We identified and included 47 studies, reporting data for 21,454 patients mainly from China.
RESULTS
The unadjusted mortality rates of men were higher than those of women, with a mortality OR 0.51 [0.42, 0.61] (p<0.001) for women. The proportion of men presenting with severe disease and admitted to the intensive care unit (ICU) was also higher than that of women (OR 0.75 [0.60-0.93] p<0.001 and OR 0.45 [0.40-0.52] p<0.001 respectively). Adjusted analyses could not be conducted due to lack of data.
CONCLUSION
COVID-19 may be associated with worse outcomes in males than in females. However, until more detailed data are provided in further studies enabling adjusted analysis, this remains an unproven assumption.
Topics: Betacoronavirus; COVID-19; Coronavirus Infections; Disease Susceptibility; Female; Hospitalization; Humans; Male; Odds Ratio; Pandemics; Pneumonia, Viral; SARS-CoV-2; Severity of Illness Index; Sex Factors
PubMed: 33141872
DOI: 10.1371/journal.pone.0241827 -
Annals of Surgical Oncology Mar 2023Gastric adenocarcinoma (GAC) is the fifth most common cancer in the world, and the presence of germline pathogenic variants has been linked with approximately 5% of... (Review)
Review
BACKGROUND
Gastric adenocarcinoma (GAC) is the fifth most common cancer in the world, and the presence of germline pathogenic variants has been linked with approximately 5% of gastric cancer diagnoses. Multiple GAC susceptibility genes have been identified, but information regarding the risk associated with pathogenic variants in these genes remains obscure. We conducted a systematic review of existing studies reporting the penetrance of GAC susceptibility genes.
METHODS
A structured search query was devised to identify GAC-related papers indexed in MEDLINE/PubMed. A semi-automated natural language processing algorithm was applied to identify penetrance papers for inclusion. Original studies reporting the penetrance of GAC were included and the full-text articles were independently reviewed. Summary statistics, effect estimates, and precision parameters from these studies were compiled into a table using a predetermined format to ensure consistency.
RESULTS
Forty-five studies were identified reporting the penetrance of GAC among patients harboring mutations in 13 different genes: APC, ATM, BRCA1, BRCA2, CDH1, CHEK2, MLH1, MSH2, MSH6, PMS2, MUTYH-Monoallelic, NBN, and STK11.
CONCLUSION
Our systematic review highlights the importance of testing for germline pathogenic variants in patients before the development of GAC. Management of patients who harbor a pathogenic mutation is multifactorial, and clinicians should consider cancer risk for each applicable gene-cancer association throughout the screening and management process. The scarcity of studies we found investigating the risk of GAC among patients with pathogenic variants in GAC susceptibility genes highlights the need for more investigations that focus on producing robust risk estimates for gene-cancer associations.
Topics: Humans; Penetrance; Stomach Neoplasms; Genetic Predisposition to Disease; Mutation; Germ-Line Mutation; Adenocarcinoma
PubMed: 36528743
DOI: 10.1245/s10434-022-12829-x -
Medical Science Monitor : International... Jun 2016BACKGROUND Recent genome-wide association studies have identified rs6983267 polymorphism as a key locus in the 8q24 region associated with multisite cancers. However,... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND Recent genome-wide association studies have identified rs6983267 polymorphism as a key locus in the 8q24 region associated with multisite cancers. However, the information on its association with thyroid cancer is inconclusive. The aim of this study was to determine whether this locus is a risk factor for susceptibility to thyroid cancer by conducting a meta-analysis. MATERIAL AND METHODS Relevant studies were identified by searching PubMed and Embase databases. The pooled odds ratio (OR) and corresponding 95% confidence interval (95% CI) were calculated. RESULTS A total of 4 studies including 2825 cases and 9684 controls were enrolled to this meta-analysis. The pooled data showed the G allele of the rs6983267 polymorphism is a risk factor for susceptibility to thyroid cancer (OR=1.08, 95%CI: 1.02-1.16, P=0.01). Significant associations were also found in homozygote comparison (GG vs. TT: OR=1.17, 95%CI: 1.03-1.33, P=0.02) and dominant model (GG+GT vs. TT: OR=1.13, 95%CI: 1.01-1.26, P=0.03). Borderline significant associations in similar directions were found in the recessive model (GG vs. GT+TT: OR=1.10, 95%CI: 0.99-1.22, P=0.07) and heterozygote comparison (GT vs. TT: OR=1.10, 95%CI: 0.99-1.24, P=0.09). CONCLUSIONS Our meta-analysis shows that the rs6983267 G>T polymorphism might be associated with higher risk of thyroid cancer. Further research with larger sample sizes and full investigation of confounding risk factors is needed to confirm or revise our conclusions.
Topics: Alleles; Case-Control Studies; Chromosomes, Human, Pair 8; Genetic Predisposition to Disease; Genome-Wide Association Study; Genotype; Humans; Polymorphism, Single Nucleotide; Risk Factors; Thyroid Neoplasms
PubMed: 27251952
DOI: 10.12659/msm.896507 -
Journal of Cerebral Blood Flow and... Nov 2018Investigation of genetic susceptibility to cerebrovascular disease has been of growing interest. A systematic review of human studies assessing neurogenomic aspects of...
Investigation of genetic susceptibility to cerebrovascular disease has been of growing interest. A systematic review of human studies assessing neurogenomic aspects of cerebrovascular disease was performed according to the preferred reporting items for systematic reviews and meta-analyses (PRISMA) statement. Any association study exploring genetic variants located in the exome associated with one of the major cerebrovascular diseases with at least 500 subjects was eligible for inclusion. Of 6874 manuscripts identified, 35 studies met the inclusion criteria. Most studies of interest focused on ischemic stroke and cerebrovascular occlusive disease. Large cohort genetic association studies on hemorrhagic cerebrovascular disease were less common. In addition to rare, well-established monogenic conditions with significant risk for cerebrovascular disease, a number of genetic variants are also relevant to cerebrovascular pathogenesis as part of a multifactorial process. The 45 polymorphisms identified were located in genes involved in processes related to endothelial and vascular health (15 (33.4%) variants), plasma lipid metabolism (10 (22.2%) variants), inflammation (9 (20%) variants), coagulation (3 (6.7%) variants), and blood pressure modulation (2 (4.4%) variants), and other (6 (13.3%) variants). This work represents a comprehensive overview of genetic variants in the exome relevant to ischemic and hemorrhagic stroke pathophysiology.
Topics: Cerebrovascular Disorders; Genetic Predisposition to Disease; Humans
PubMed: 30182779
DOI: 10.1177/0271678X18797958 -
International Journal of Molecular... Apr 2020In this both narrative and systematic review, we explore the role of TNF-α in the immunopathogenesis of Behçet's disease (BD) and the effect of treatment with TNF-α...
In this both narrative and systematic review, we explore the role of TNF-α in the immunopathogenesis of Behçet's disease (BD) and the effect of treatment with TNF-α blockers. BD is an auto-inflammatory disease, characterized by recurrent painful oral ulcerations. The pathogenesis of BD is not yet elucidated; it is assumed that TNF-α may play a key role. In the narrative review, we report an increased production of TNF-α, which may be stimulated via TLR-signaling, or triggered by increased levels of IL-1β and IFN-γ. The abundance of TNF-α is found in both serum and in sites of inflammation. This increased presence of TNF-α stimulates T-cell development toward pro-inflammatory subsets, such as Th17 and Th22 cells. Treatment directed against the surplus of TNF-α is investigated in the systematic review, performed according to the PRISMA guideline. We searched the Pubmed and Cochrane database, including comparative studies only. After including 11 studies, we report a beneficial effect of treatment with TNF-α blockers on the various manifestations of BD. In conclusion, the pivotal role of TNF-α in the immunopathogenesis of BD is reflected in both the evidence of their pro-inflammatory effects in BD and in the evidence of the positive effect of treatment on the course of disease in BD.
Topics: Animals; Behcet Syndrome; Disease Management; Disease Susceptibility; Humans; Molecular Targeted Therapy; Tumor Necrosis Factor-alpha
PubMed: 32349254
DOI: 10.3390/ijms21093072