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Journal of Cancer Research and Clinical... Jul 2015The aim of our study is to provide a precise quantification for the association between DNA methyltransferase 3B (DNMT3B) variations (rs2424913 C/T, rs1569686 G/T,... (Meta-Analysis)
Meta-Analysis Review
PURPOSE
The aim of our study is to provide a precise quantification for the association between DNA methyltransferase 3B (DNMT3B) variations (rs2424913 C/T, rs1569686 G/T, rs6087990 T/C and rs2424908 T/C) and the risk of cancer.
METHODS
We performed a systematic literature review and assessed the methodological quality of included case-control designed studies based on Newcastle-Ottawa Scale. Pooled odds ratios (ORs) and corresponding 95% confidence intervals (95% CIs) were calculated to assess the strengths of the associations.
RESULTS
We identified 34 studies for pooled analyses. Overall, the results demonstrated that rs2424913 polymorphism was significantly associated with negative cancer risk in the African population (CT vs TT: OR 0.10, 95% CI 0.02-0.63, P = 0.01; CT+CC vs TT: OR 0.14, 95% CI 0.03-0.76, P = 0.02), and the rs1569686 polymorphism was significantly associated with a subtly decreased cancer risk (GT vs TT: OR 0.80, 95% CI 0.72-0.90, P < 0.01; GT+GG vs TT: OR 0.84, 95% CI 0.76-0.94, P < 0.01), particularly in the Asian population (GT vs TT: OR 0.79, 95% CI 0.66-0.96, P < 0.01) and in colorectal cancer subgroup (G vs T: OR 0.69, 95% CI 0.54-0.88, P < 0.01). In addition, the rs6087990 polymorphism was associated with decreased risk in Asian population (T vs C: OR 0.77, 95% CI 0.62-0.96, P = 0.02). Similarly, the rs2424908 polymorphism was observed as a protective factor for cancer in the Asian population (CT+CC vs TT: OR 0.79, 95% CI 0.66-0.95, P = 0.01).
CONCLUSIONS
DNMT3B polymorphisms might be associated with decreased cancer risk especially in the Asian population and for colorectal cancer. Further multicentric studies are still needed to confirm the results.
Topics: Asian People; Case-Control Studies; DNA (Cytosine-5-)-Methyltransferases; Gene Frequency; Genetic Association Studies; Genetic Heterogeneity; Genetic Predisposition to Disease; Humans; Neoplasms; Odds Ratio; Polymorphism, Single Nucleotide; Risk; DNA Methyltransferase 3B
PubMed: 25515408
DOI: 10.1007/s00432-014-1894-x -
Clinical Laboratory Aug 2023Blood coagulation disorders are one of the causes of mortality. Therefore, the study of coagulation disorders is also important. This systematic review was conducted to... (Review)
Review
BACKGROUND
Blood coagulation disorders are one of the causes of mortality. Therefore, the study of coagulation disorders is also important. This systematic review was conducted to investigate blood coagulation disorders in the Iranian population.
METHODS
Searches in electronic databases such as Web of Science, PubMed, Scopus, SID, ProQuest, and Magiran from May 10, 1990 to May 10, 2019 were performed according to PRISMA guidelines. Cross-sectional, cohort, experimental, and case-control studies were included according to the inclusion criteria without gender and language restrictions.
RESULTS
After screening and selection, 14 studies were selected for data extraction. Accordingly, the most common blood coagulation disorder in the south of Iran was a defect in FXIII (599 of 1,165). C.559T>C (27 of 189) and c.562T>C (20 of 189) mutations had the highest frequency. The most common FXIII polymorphism among the Iranian Azerbaijanis was Val34Leu (203 of 410). The second most common coagulation disorder was FV Leiden (396 of 1,165). Then, c.1691G>A (151 of 396) was the most common mutation.
CONCLUSIONS
This study shows that the most critical coagulation disorder among the Iranian population is FXIII deficiency and the most common mutation is c.562T>C.
Topics: Humans; Iran; Cross-Sectional Studies; Blood Coagulation Disorders; Polymorphism, Genetic; Mutation
PubMed: 37560866
DOI: 10.7754/Clin.Lab.2023.230119 -
Bulletin Du Cancer Apr 2015The X-ray repair cross-complementing group 3 (XRCC3) is a highly suspected candidate gene for cancer susceptibility, and a large amount studies have examined the... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
The X-ray repair cross-complementing group 3 (XRCC3) is a highly suspected candidate gene for cancer susceptibility, and a large amount studies have examined the association of the rs861539 in XRCC3 (Thr241Met) with lung cancer risk in various populations. However, the results remain inconclusive.
METHODS
The electronic database of PubMed, Medline, Embase and CNKI (China National Knowledge Infrastructure) were searched for case-control studies published up to December 05, 2013. A systematic review and meta-analysis was performed to evaluate the relationship between XRCC3 Thr241Met polymorphism and lung cancer risk. Data were extracted and pooled odds ratio (OR) with its 95% confidence intervals (CI) were calculated.
RESULTS
Total 21 studies, including 6880 lung cancer cases and 8329 controls, were available for meta-analysis. Overall, our results showed that the XRCC3 Thr241Met polymorphism was not associated with risk of lung cancer in all genetic contrast models (P>0.05). Stratified analyses by ethnicity (Asians, Caucasians and mixed population) showed similar results. Additionally, no evidence of publication bias was observed by using the funnel plot.
CONCLUSIONS
There is no clear evidence showing a significant correlation between XRCC3 Thr241Met polymorphism and lung cancer risk in total population and stratified analysis by ethnicity. However, studies assessing the gene-gene interactions should be considered to further estimate this gene variant in lung cancer risk.
Topics: Case-Control Studies; Confidence Intervals; DNA Repair; DNA-Binding Proteins; Humans; Lung Neoplasms; Polymorphism, Genetic
PubMed: 25794597
DOI: 10.1016/j.bulcan.2015.02.003 -
Population Pharmacokinetic Models of Tacrolimus in Adult Transplant Recipients: A Systematic Review.Clinical Pharmacokinetics Nov 2020Numerous population pharmacokinetic (PK) models of tacrolimus in adult transplant recipients have been published to characterize tacrolimus PK and facilitate dose... (Review)
Review
BACKGROUND AND OBJECTIVES
Numerous population pharmacokinetic (PK) models of tacrolimus in adult transplant recipients have been published to characterize tacrolimus PK and facilitate dose individualization. This study aimed to (1) investigate clinical determinants influencing tacrolimus PK, and (2) identify areas requiring additional research to facilitate the use of population PK models to guide tacrolimus dosing decisions.
METHODS
The MEDLINE and EMBASE databases, as well as the reference lists of all articles, were searched to identify population PK models of tacrolimus developed from adult transplant recipients published from the inception of the databases to 29 February 2020.
RESULTS
Of the 69 studies identified, 55% were developed from kidney transplant recipients and 30% from liver transplant recipients. Most studies (91%) investigated the oral immediate-release formulation of tacrolimus. Few studies (17%) explained the effect of drug-drug interactions on tacrolimus PK. Only 35% of the studies performed an external evaluation to assess the generalizability of the models. Studies related variability in tacrolimus whole blood clearance among transplant recipients to either cytochrome P450 (CYP) 3A5 genotype (41%), days post-transplant (30%), or hematocrit (29%). Variability in the central volume of distribution was mainly explained by body weight (20% of studies).
CONCLUSION
The effect of clinically significant drug-drug interactions and different formulations and brands of tacrolimus should be considered for any future tacrolimus population PK model development. Further work is required to assess the generalizability of existing models and identify key factors that influence both initial and maintenance doses of tacrolimus, particularly in heart and lung transplant recipients.
Topics: Adult; Cytochrome P-450 CYP3A; Genotype; Humans; Immunosuppressive Agents; Kidney Transplantation; Liver Transplantation; Models, Biological; Tacrolimus; Transplant Recipients
PubMed: 32783100
DOI: 10.1007/s40262-020-00922-x -
Veterinary Dermatology Jun 2016Genetic studies on canine atopic dermatitis (CAD) indicate that large populations from one geographical location are preferred for the identification of relevant... (Review)
Review
BACKGROUND
Genetic studies on canine atopic dermatitis (CAD) indicate that large populations from one geographical location are preferred for the identification of relevant susceptibility genes. Australian dogs are relatively isolated; studies on CAD in this population are limited.
HYPOTHESIS/OBJECTIVES
To identify breeds at risk in the Australian dog population and to compare with worldwide breed predisposition.
ANIMALS
Case records (n = 23,000) from University Veterinary Teaching Hospital (UVTH) dogs, including 722 with CAD.
METHODS
The breed proportion of CAD and odds risk (OR) were calculated. A systematic review of 13 previous studies (1971-2010) was performed and compared to the study results by implementing an atopic dermatitis (AD)-to-reference population ratio (ADRPR).
RESULTS
Eleven dog breeds with significant increased OR (≥1.0) were identified; all with breed CAD cases proportionally higher than their base hospital population. Gender risk in males from the pug dog breed (P = 0.007) was detected and the bichon frise breed had a similar trend (P = 0.05). Sixteen predisposed dog breeds were identified by systematic review. All breeds with significant increased OR in UVTH had ADRPR > 1.4; five (boxer, bulldog, Labrador retriever, pug, West Highland white terrier) were recognized as predisposed worldwide. One clade of breeds with common ancestry was highly represented in CAD cases worldwide and in Australia (81% of the significant OR cases).
CONCLUSION AND CLINICAL IMPORTANCE
The use of a large population from one geographical location and ADRPR provided an objective comparison between worldwide AD studies; it identified one common clade of susceptible breeds. Breed genetics and related clinical presentation may help CAD diagnosis and treatment.
Topics: Animals; Australia; Dermatitis, Atopic; Dog Diseases; Dogs; Genetic Predisposition to Disease; Odds Ratio; Risk Factors
PubMed: 27188769
DOI: 10.1111/vde.12317 -
Annals of Oncology : Official Journal... Apr 2015There is an urgent need for biomarkers to help predict prognosis and guide management of esophageal cancer. This review identifies, evaluates and meta-analyses the... (Meta-Analysis)
Meta-Analysis Review
INTRODUCTION
There is an urgent need for biomarkers to help predict prognosis and guide management of esophageal cancer. This review identifies, evaluates and meta-analyses the evidence for reported somatic and germline DNA sequence biomarkers of outcome and stage.
METHODS
A systematic review was carried out of the PubMed, EMBASE and Cochrane databases (20 August 2014), in conjunction with the ASCO Level of Evidence scale for biomarker research. Meta-analyses were carried out for all reported markers associated with outcome measures by more than one study.
RESULTS
Four thousand and four articles were identified, 762 retrieved and 182 studies included. There were 65 reported markers of survival or recurrence 12 (18.5%) were excluded due to multiple comparisons. Following meta-analysis, significant associations were seen for six tumor variants (mutant TP53 and PIK3CA, copy number gain of ERBB2/HER2, CCND1 and FGF3, and chromosomal instability/ploidy) and seven germline polymorphisms: ERCC1 rs3212986, ERCC2 rs1799793, TP53 rs1042522, MDM2 rs2279744, TYMS rs34743033, ABCB1 rs1045642 and MTHFR rs1801133. Twelve germline markers of treatment complications were reported; 10 were excluded. Two tumor and 15 germline markers (11 excluded) of chemo (radio)therapy response were reported. Following meta-analysis, associations were demonstrated for mutant TP53, ERCC1 rs11615 and XRCC1 rs25487. There were 41 tumor/germline reported markers of stage; 27 (65.9%) were excluded.
CONCLUSIONS
Numerous DNA markers of outcome and stage have been reported, yet few are backed by high-quality evidence. Despite this, a small number of variants appear reliable. These merit evaluation in prospective trials, within the context of high-throughput sequencing and gene expression.
Topics: Biomarkers, Tumor; DNA, Neoplasm; Esophageal Neoplasms; Germ-Line Mutation; Humans; Neoplasm Staging; Polymorphism, Single Nucleotide; Prognosis
PubMed: 25214541
DOI: 10.1093/annonc/mdu449 -
International Journal of Surgery... Mar 2018Cystic echinococcosis (CE) represents an increasing public health concern in many parts of the world, including the Middle East. The present study is the first... (Meta-Analysis)
Meta-Analysis Review
Cystic echinococcosis (CE) represents an increasing public health concern in many parts of the world, including the Middle East. The present study is the first systematic review and meta-analysis to assess the seroprevalence rate and population genetic structure of human CE in the eastern Mediterranean region. To estimate the population genetic structure, Echinococcus sequences of the cytochrome oxidase subunit 1 (cox1) gene isolated from countries from this geographical area were retrieved from the GenBank database. An electronic search for articles from 1990 until 2015 was performed using databases PubMed, ScienceDirect, and Scopus. A total of 53 articles reporting on CE seroprevalence and genotyping data met our eligibility criteria and were included in a meta-analysis. The overall CE seroprevalence rates in the general population and in individuals at high risk of infection were estimated using the random-effect model at 7.4% (95% CI = 4.8-10.6) and 10.7% (95% CI = 7.6-14.3), respectively. Risk factors including age group (P < 0.001), dog ownership (P = 0.03), residence area (P < 0.001), and educational level (P = 0.04) showed a statistically significant association with CE seroprevalence. A pairwise fixation index (Fst), used as an estimation of gene flow, suggested a moderate level of genetic differentiation between members of the E. granulosus sensu stricto (G1-G3) complex from Iranian and Turkish metapopulations (Fst = 0.171). The finding of common haplotypes may represent an ancestral transfer of alleles among populations probably during the early stages of animal domestication. The high CE seroprevalence rates found highlight the necessity of implementing appropriate public education for preventive and control strategies, particularly in individuals at high risk of infection; furthermore, our genetic findings reveal novel molecular data concerning microevolutionary events of Echinococcus isolates among Middle East countries.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Animals; Asian People; Cyclooxygenase 1; Dogs; Echinococcosis; Female; Genetic Variation; Genetics, Population; Genotype; Haplotypes; Humans; Iran; Male; Middle Aged; Middle East; Risk Factors; Seroepidemiologic Studies; Turkey; Young Adult
PubMed: 29367032
DOI: 10.1016/j.ijsu.2018.01.025 -
Pharmacogenomics Jul 2019This systematic review reflects the results of pharmacogenetic studies in the Russian Federation aimed at studying the genes involved in the drug biotransformation...
This systematic review reflects the results of pharmacogenetic studies in the Russian Federation aimed at studying the genes involved in the drug biotransformation system. The works of Russian researchers found by us are mostly devoted to microsomal liver oxidation enzymes (metabolism) and membrane transporter systems (absorption and excretion). This review presents population-ethnic and associative clinical studies on the genes of the system, noncytochrome oxidation enzymes (, ), membrane transporter system genes (, ) and warfarin biotransformation enzymes (, ). The information is structured in the form of 11 tables, divided by regions of the Russian Federation.
Topics: Alleles; Anticoagulants; Cytochrome P-450 Enzyme System; Genotype; Humans; Inactivation, Metabolic; Pharmacogenetics; Russia; Warfarin
PubMed: 31368406
DOI: 10.2217/pgs-2019-0013 -
Neurology Mar 2022Human genetic studies support a key role of interleukin-6 (IL-6) in the pathogenesis of ischemic stroke. However, there are only limited data from observational studies... (Meta-Analysis)
Meta-Analysis
BACKGROUND AND OBJECTIVES
Human genetic studies support a key role of interleukin-6 (IL-6) in the pathogenesis of ischemic stroke. However, there are only limited data from observational studies exploring circulating IL-6 levels as a risk factor for ischemic stroke. We set out to perform a systematic review and meta-analysis of aggregate data on cohort studies to determine the magnitude and shape of the association between circulating IL-6 levels and risk of incident ischemic stroke in the general population.
METHODS
Following the PRISMA guidelines, we systematically screened the PubMed search engine from inception to March 2021 for population-based prospective cohort studies exploring the association between circulating IL-6 levels and risk of incident ischemic stroke. We pooled association estimates for ischemic stroke risk with random-effects models and explored nonlinear effects in dose-response meta-analyses. Risk of bias was assessed with the Newcastle-Ottawa Scale (NOS). We used funnel plots and trim-to-fill analyses to assess publication bias.
RESULTS
We identified 11 studies (n = 27,411 individuals; 2,669 stroke events) meeting our eligibility criteria. Mean age of all included participants was 60.5 years and 54.8% were female. Overall, quality of the included studies was high (median 8 out of 9 NOS points, interquartile range 7-9). In meta-analyses, 1 SD increment in circulating log-transformed IL-6 levels was associated with a 19% increase in risk of incident ischemic stroke over a mean follow-up of 12.4 years (relative risk 1.19; 95% confidence interval 1.10 to 1.28). A dose-response meta-analysis showed a linear association between circulating IL-6 levels and ischemic stroke risk. There was only moderate heterogeneity and the results were consistent in sensitivity analyses restricted to studies of low risk of bias and studies fully adjusting for demographic and vascular risk factors. The results also remained stable following adjustment for publication bias.
DISCUSSION
Higher circulating IL-6 levels in community-dwelling individuals are associated with higher long-term risk of incident ischemic stroke in a linear pattern and independently of conventional vascular risk factors. Along with findings from genetic studies and clinical trials, these results provide additional support for a key role of IL-6 signaling in ischemic stroke.
Topics: Female; Humans; Interleukin-6; Ischemic Stroke; Male; Middle Aged; Prospective Studies; Risk Factors
PubMed: 34969940
DOI: 10.1212/WNL.0000000000013274 -
The Australian and New Zealand Journal... Sep 2016The neurotransmitter serotonin is understood to control mood and drug response. Carrying a genetic variant in the serotonin transporter gene (5HTT) may increase the risk... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
The neurotransmitter serotonin is understood to control mood and drug response. Carrying a genetic variant in the serotonin transporter gene (5HTT) may increase the risk of major depressive disorder and alcohol dependence. Previous estimates of the association of the S allele of 5HTTLPR polymorphism with major depressive disorder and alcohol dependence have been inconsistent.
METHODS
For the systematic review, we used PubMed MEDLINE and Discovery of The University of Melbourne to search for all relevant case-control studies investigating the associations of 5HTTLPR polymorphism with major depressive disorder and alcohol dependence. Summary odds ratios (OR) and their 95% confidence intervals (CI) were estimated. To investigate whether year of publication, study population or diagnostic criteria used were potential sources of heterogeneity, we performed meta-regression analyses. Publication bias was assessed using Funnel plots and Egger's statistical tests.
RESULTS
We included 23 studies of major depressive disorder without alcohol dependence containing 3392 cases and 5093 controls, and 11 studies of alcohol dependence without major depressive disorder containing 2079 cases and 2273 controls. The summary OR for homozygote carriers of the S allele of 5HTTLPR polymorphism compared with heterozygote and non-carriers combined (SS vs SL+LL genotype) was 1.33 (95% CI = [1.19, 1.48]) for major depressive disorder and 1.18 (95% CI = [1.01, 1.38]) for alcohol dependence. The summary OR per S allele of 5HTTLPR polymorphism was 1.16 (95% CI = [1.08, 1.23]) for major depressive disorder and 1.12 (95% CI = [1.01, 1.23]) for alcohol dependence. Meta-regression models showed that the associations did not substantially change after adjusting for year of publication, study population and diagnostic criteria used. There was no evidence for publication bias of the studies included in our meta-analysis.
CONCLUSIONS
Our meta-analysis confirms that individuals with the homozygous S allele of 5HTTLPR polymorphism are at increased risks of major depressive disorder as well as alcohol dependence. Further studies are required to investigate the association between 5HTTLPR polymorphism and the comorbidity of major depressive disorder and alcohol dependence as well as gene × environmental interactions.
Topics: Alcohol-Related Disorders; Depressive Disorder, Major; Humans; Serotonin Plasma Membrane Transport Proteins
PubMed: 26979101
DOI: 10.1177/0004867416637920