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European Review For Medical and... Sep 2021Bipolar disorder (BD) is a severe disorder, and it is associated with an increased risk of mortality. About 25% of patients with BD have attempted and 11% have died by... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
Bipolar disorder (BD) is a severe disorder, and it is associated with an increased risk of mortality. About 25% of patients with BD have attempted and 11% have died by suicide. All these characteristics suggest that the disorders within the bipolar spectrum are a crucial public health problem. With the development of molecular genetics in recent decades, it was possible to more easily detect risk genes associated with this disorder. This study aimed at summarizing the findings of systematic reviews and meta-analyses on the topic and assessing the quality of the available evidence.
MATERIALS AND METHODS
PubMed/Medline and Web of Science were searched to identify systematic reviews and meta-analyses published during 2013-2019. Standard methodology was applied to synthesize and assess the retrieved literature.
RESULTS
This systematic review identifies a number of potential risk genes associated with bipolar disorder whose mechanism of action has yet to be confirmed. They are divided into several groups: 1) a list of the most significant susceptibility genetic factors associated with BD; 2) the implication of the ZNF804A gene in BD; 3) the role of genes involved in calcium signaling in BD; 4) DNA methylation in BD; 5) BD and risk suicide genes; 6) susceptibility genes for early-onset BD; 7) candidate genes common to both BD and schizophrenia; 8) genes involved in cognitive status in BD cases; 9) genes involved in structural alteration in BD brain tissue; 10) genes involved in lithium response in BD.
CONCLUSIONS
Future research should concentrate on molecular mechanisms by which genetic variants play a major role in BD. Supplemental research is needed to replicate the applicable results.
Topics: Bipolar Disorder; Calcium Signaling; DNA Methylation; Genes, Transgenic, Suicide; Genetic Association Studies; Genetic Predisposition to Disease; Humans; Kruppel-Like Transcription Factors; Schizophrenia
PubMed: 34604962
DOI: 10.26355/eurrev_202109_26789 -
Asian Pacific Journal of Cancer... Dec 2018Background: The rs1800871 and rs1800872 polymorphisms of interleukin 10 (IL-10) gene has been indicated to be associated with breast cancer (BC) risk, but study results... (Meta-Analysis)
Meta-Analysis Review
Background: The rs1800871 and rs1800872 polymorphisms of interleukin 10 (IL-10) gene has been indicated to be associated with breast cancer (BC) risk, but study results are still debatable. To derive a more precise evaluation, we performed a comprehensive meta-analysis. Methods: Multiple electronic databases were searched to identify studies assessing the IL-10 rs1800871 and rs1800872 polymorphisms with BC risk. Results: A total of 21 case-control studies with 6054 cases and 6355 controls were included in this met-analysis. There was a significant association between the rs1800871 polymorphism and BC risk (CT vs. TT: OR= 1.17, 95% CI 1.01-1.35, p=0.02; and CC+CT vs. TT: OR= 1.29, 95% CI 1.00-1.66, p=0.04). Moreover, increased BC risks were also associated with the rs1800872 polymorphism (C vs. A: OR= 1.29, 95% CI 1.04-1.60, p=0.01; CC vs. AA: OR= 1.54, 95% CI 1.03-2.30, p=0.03; CC+CA vs. AA: OR= 1.43, 95% CI 1.01-2.01, p=0.03; and CC vs. CA+AA: OR= 1.23, 95% CI 1.01-1.51, p=0.04). A pooling of the studies was also conducted by ethnicity, but failed to show an association of IL-10 rs1800871 and rs1800872 polymorphism with BC risk in Asians and Caucasians. Conclusions: Our results are inconsistent with previous meta-analysis suggests that IL-10 rs1800871 and rs1800872 polymorphisms might contribute to BC susceptibility in overall population, but not by ethnicity.
Topics: Asian People; Breast Neoplasms; Case-Control Studies; Female; Genetic Predisposition to Disease; Humans; Interleukin-10; Polymorphism, Single Nucleotide; Risk Factors; White People
PubMed: 30583340
DOI: 10.31557/APJCP.2018.19.12.3353 -
Journal of the... Sep 2014Many reported studies have been conducted to investigate the association of angiotensin II type 1 receptor (AT1R) A1166C gene polymorphism with myocardial infarction... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND AND AIM
Many reported studies have been conducted to investigate the association of angiotensin II type 1 receptor (AT1R) A1166C gene polymorphism with myocardial infarction (MI) susceptibility. However, the results from those reports are still conflicting. This meta-analysis was performed to study the relationship between AT1R A1166C gene polymorphism and MI risk.
METHOD
The databases of PubMed, Embase, and Cochrane Library were searched as of 1 March 2012, and eligible investigations were recruited into this meta-analysis.
RESULTS
Eighteen investigations were identified for the analysis of association between AT1R A1166C gene polymorphism and MI risk, 11 in Caucasians, three in Asians, two in Africans, one in the population of Brazil and one in the population of Durban, South Africa . There was a marked association between AT1R C allele and MI susceptibility for overall populations (odds ratio (OR)=1.12, 95% confidence interval (CI): 1.01-1.25, p=0.03), and AT1R AA genotype was associated with a lower risk of MI in overall populations (OR=0.87, 95% CI: 0.78-0.98, p=0.02). However, AT1R A1166C gene polymorphism was not associated with MI risk in the sub-groups of Caucasians, Asians, Africans, Brazil and Durban populations.
CONCLUSIONS
C allele is a risk factor for the MI susceptibility in overall populations, and AA genotype might be a protective factor against the MI risk in overall populations. However, more case-control association investigations on larger, stratified populations are required in the future.
Topics: Genetic Association Studies; Genetic Predisposition to Disease; Humans; Myocardial Infarction; Polymorphism, Single Nucleotide; Publication Bias; Receptor, Angiotensin, Type 1; Risk Factors; White People
PubMed: 23178513
DOI: 10.1177/1470320312466927 -
Medicine Jan 2018AIS is the most common spinal deformity disease, yet its etiology remains uncertain. Significant associations have been found between AIS risk and vitamin D receptor... (Meta-Analysis)
Meta-Analysis Review
Association of vitamin D receptor BsmI rs1544410 and ApaI rs7975232 polymorphisms with susceptibility to adolescent idiopathic scoliosis: A systematic review and meta-analysis.
BACKGROUND
AIS is the most common spinal deformity disease, yet its etiology remains uncertain. Significant associations have been found between AIS risk and vitamin D receptor (VDR) gene polymorphisms; however, some of these results are controversial. The aim of this study was to determine whether VDR BsmI rs1544410 and ApaI rs7975232 polymorphisms are correlated with AIS.
METHODS
Databases, including PubMed, EMBASE, Web of Science, the Cochrane Library, the Chinese Biomedical Literature Database, and the Wanfang Database, were systematically searched, and eligible case-control studies that explored the association of VDR (BsmI and ApaI) and the susceptibility to AIS were selected. The pooled odds ratio (OR) with 95% confidence interval (95% CI) was calculated to assess the associations, and subgroup meta-analyses were performed according to the ethnicity of the study population.
RESULTS
A total of 5 studies with 717 cases and 554 controls fulfilled the inclusion criteria after assessment by 2 reviewers. Generally, significant correlations were found between the BsmI polymorphism and AIS risk in overall populations and in Asian populations (overall population: B vs b: OR = 2.12, 95% CI = 1.21-3.75, P = .009; BB vs bb: OR = 3.38, 95% CI = 1.08-10.57, P = .036; Bb vs bb: OR = 2.50, 95% CI = 1.29-4.82, P = .006; BB/Bb vs bb: OR = 2.71, 95% CI = 1.31-5.63, P = .007; Asian population: B vs b: OR = 2.42, 95% CI = 1.27-4.61, P = .007; BB vs bb: OR = 4.09, 95% CI = 1.03-16.22, P = .045; Bb vs bb: OR = 2.94, 95% CI = 1.42-6.10, P = .004; BB/Bb vs bb: OR = 3.23, 95% CI = 1.42-7.35, P = .005). There was no significant association observed in Caucasian populations (all P > .05). With regard to the ApaI polymorphism, we found that it significantly decreased the risk of AIS (Aa vs AA: OR = 0.43, 95% CI = 0.24-0.77, P = .004; Aa/aa vs AA: OR = 0.52, 95% CI = 0.30-0.91, P = .023); however, we could not draw a definitive conclusion for Caucasian populations, as no studies have been conducted in this group to determine the role of the VDR ApaI polymorphism in AIS etiology and development.
CONCLUSION
VDR BsmI was significantly associated with AIS susceptibility in the overall and Asian populations, while the VDR ApaI polymorphism only played a key role in AIS etiology and development in Asian populations.
Topics: Genetic Predisposition to Disease; Humans; Polymorphism, Genetic; Receptors, Calcitriol; Scoliosis
PubMed: 29480871
DOI: 10.1097/MD.0000000000009627 -
International Journal of Molecular... Dec 2022Aim: The single-nucleotide polymorphism (SNP) rs713041, located in the regulatory region, is required to incorporate selenium into the selenoprotein glutathione... (Meta-Analysis)
Meta-Analysis Review
Aim: The single-nucleotide polymorphism (SNP) rs713041, located in the regulatory region, is required to incorporate selenium into the selenoprotein glutathione peroxidase 4 (GPX4) and has been found to have functional consequences. This systematic review aimed to conduct a meta-analysis to determine whether there is an association between GPX4 (rs713041) SNP and the risk of diseases in humans and its correlation with selenium status. Material and methods: A systematic search for English-language manuscripts published between January 1990 and November 2022 was carried out using six databases: CINAHL, Cochrane, Medline, PubMed, Scopus and Web of Science. Odds ratios (ORs) and 95% confidence intervals (CIs) were applied to assess a relationship between GPX4 (rs713041) SNP and the risk of different diseases based on three genetic models. Review Manager 5.4 and Comprehensive Meta-Analysis 4 software were used to perform the meta-analysis and carry out Egger’s test for publication bias. Results: Data from 21 articles were included in the systematic review. Diseases were clustered according to the physiological system affected to understand better the role of GPX4 (rs713041) SNP in developing different diseases. Carriers of the GPX4 (rs173041) T allele were associated with an increased risk of developing colorectal cancer in additive and dominant models (p = 0.02 and p = 0.004, respectively). In addition, carriers of the T allele were associated with an increased risk of developing stroke and hypertension in the additive, dominant and recessive models (p = 0.002, p = 0.004 and p = 0.01, respectively). On the other hand, the GPX4 (rs713041) T allele was associated with a decreased risk of developing pre-eclampsia in the additive, dominant and recessive models (p < 0.0001, p = 0.002 and p = 0.0005, respectively). Moreover, selenium levels presented lower mean values in cancer patients relative to control groups (SMD = −0.39 µg/L; 95% CI: −0.64, −0.14; p = 0.002, I2 = 85%). Conclusion: GPX4 (rs713041) T allele may influence colorectal cancer risk, stroke, hypertension and pre-eclampsia. In addition, low selenium levels may play a role in the increased risk of cancer.
Topics: Female; Humans; Pregnancy; Colorectal Neoplasms; Genetic Predisposition to Disease; Glutathione Peroxidase; Hypertension; Phospholipid Hydroperoxide Glutathione Peroxidase; Polymorphism, Single Nucleotide; Pre-Eclampsia; Selenium; Stroke
PubMed: 36555402
DOI: 10.3390/ijms232415762 -
JAMA Pediatrics Feb 2021The degree to which children and adolescents are infected by and transmit severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is unclear. The role of children...
IMPORTANCE
The degree to which children and adolescents are infected by and transmit severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is unclear. The role of children and adolescents in transmission of SARS-CoV-2 is dependent on susceptibility, symptoms, viral load, social contact patterns, and behavior.
OBJECTIVE
To systematically review the susceptibility to and transmission of SARS-CoV-2 among children and adolescents compared with adults.
DATA SOURCES
PubMed and medRxiv were searched from database inception to July 28, 2020, and a total of 13 926 studies were identified, with additional studies identified through hand searching of cited references and professional contacts.
STUDY SELECTION
Studies that provided data on the prevalence of SARS-CoV-2 in children and adolescents (younger than 20 years) compared with adults (20 years and older) derived from contact tracing or population screening were included. Single-household studies were excluded.
DATA EXTRACTION AND SYNTHESIS
PRISMA guidelines for abstracting data were followed, which was performed independently by 2 reviewers. Quality was assessed using a critical appraisal checklist for prevalence studies. Random-effects meta-analysis was undertaken.
MAIN OUTCOMES AND MEASURES
Secondary infection rate (contact-tracing studies) or prevalence or seroprevalence (population screening studies) among children and adolescents compared with adults.
RESULTS
A total of 32 studies comprising 41 640 children and adolescents and 268 945 adults met inclusion criteria, including 18 contact-tracing studies and 14 population screening studies. The pooled odds ratio of being an infected contact in children compared with adults was 0.56 (95% CI, 0.37-0.85), with substantial heterogeneity (I2 = 94.6%). Three school-based contact-tracing studies found minimal transmission from child or teacher index cases. Findings from population screening studies were heterogenous and were not suitable for meta-analysis. Most studies were consistent with lower seroprevalence in children compared with adults, although seroprevalence in adolescents appeared similar to adults.
CONCLUSIONS AND RELEVANCE
In this meta-analysis, there is preliminary evidence that children and adolescents have lower susceptibility to SARS-CoV-2, with an odds ratio of 0.56 for being an infected contact compared with adults. There is weak evidence that children and adolescents play a lesser role than adults in transmission of SARS-CoV-2 at a population level. This study provides no information on the infectivity of children.
Topics: Adolescent; COVID-19; Child; Communicable Disease Control; Disease Susceptibility; Disease Transmission, Infectious; Female; Humans; Male; Risk Assessment; Seroepidemiologic Studies
PubMed: 32975552
DOI: 10.1001/jamapediatrics.2020.4573 -
Cells Dec 2019The age-related decline in skeletal muscle mass, strength and function known as 'sarcopenia' is associated with multiple adverse health outcomes, including... (Review)
Review
The age-related decline in skeletal muscle mass, strength and function known as 'sarcopenia' is associated with multiple adverse health outcomes, including cardiovascular disease, stroke, functional disability and mortality. While skeletal muscle properties are known to be highly heritable, evidence regarding the specific genes underpinning this heritability is currently inconclusive. This review aimed to identify genetic variants known to be associated with muscle phenotypes relevant to sarcopenia. PubMed, Embase and Web of Science were systematically searched (from January 2004 to March 2019) using pre-defined search terms such as "aging", "sarcopenia", "skeletal muscle", "muscle strength" and "genetic association". Candidate gene association studies and genome wide association studies that examined the genetic association with muscle phenotypes in non-institutionalised adults aged ≥50 years were included. Fifty-four studies were included in the final analysis. Twenty-six genes and 88 DNA polymorphisms were analysed across the 54 studies. The , and genes were the most frequently studied, although the , , , and genes were also shown to be significantly associated with muscle phenotypes in two or more studies. Ten DNA polymorphisms (rs154410, rs2228570, rs1800169, rs3093059, rs1800629, rs1815739, rs1799752, rs7412, rs429358 and 192 bp allele) were significantly associated with muscle phenotypes in two or more studies. Through the identification of key gene variants, this review furthers the elucidation of genetic associations with muscle phenotypes associated with sarcopenia.
Topics: Aged; Aged, 80 and over; Female; Gene Regulatory Networks; Genetic Association Studies; Genetic Predisposition to Disease; Humans; Male; Middle Aged; Phenotype; Polymorphism, Single Nucleotide; Sarcopenia
PubMed: 31861518
DOI: 10.3390/cells9010012 -
Transfusion and Apheresis Science :... Aug 2021Numerous studies investigate the association between the ABO blood groups and the occurrence of COVID-19 infection; discordant findings were reported. Therefore, the... (Comparative Study)
Comparative Study Meta-Analysis
BACKGROUND
Numerous studies investigate the association between the ABO blood groups and the occurrence of COVID-19 infection; discordant findings were reported. Therefore, the purpose of this meta-analysis was to evaluate the existing evidence on the susceptibility of the ABO blood group to COVID-19 infection.
METHODS
Systematically searched published articles in PubMed, Google Scholar, Scopus, and EMBASE between 1 st January 2020 and 21 st March 2021. After quality control and the exclusion of irrelevant studies, 16 studies were included in the final analysis.
RESULTS
Although the random-effect meta-analysis revealed a large heterogeneity among studies, I 2 = 99.197 %. The pooled event rates and (95 % CIs) for A, O, B, and AB blood group were 0.459 (95 %CI: 0.358-0.441), 0.342 (95 %CI: 0.298-0.374), 0.180 (95 %CI: 0.150-0.214), and 0.076 (95 %CI: 0.055-0.127), respectively. These results indicated that the COVID-19 infection rate was higher in persons with blood group A > O > B > AB. Overall, the ABO blood group's vulnerability to COVID-19 infection was statistically significant (pooled p -value<0.001).
CONCLUSION
This meta-analysis offers a further indication of blood group A individuals' vulnerability to COVID-19 infection, and blood type AB are linked to a lower risk of COVID-19 infection.
Topics: ABO Blood-Group System; COVID-19; Evidence-Based Medicine; Genetic Predisposition to Disease; Humans; Pandemics; SARS-CoV-2
PubMed: 34045120
DOI: 10.1016/j.transci.2021.103169 -
BMC Genomics Jun 2024The association between Apolipoprotein A5 (APOA5) genetic polymorphisms and susceptibility to metabolic syndrome (MetS) has been established by many studies, but there... (Meta-Analysis)
Meta-Analysis
BACKGROUND
The association between Apolipoprotein A5 (APOA5) genetic polymorphisms and susceptibility to metabolic syndrome (MetS) has been established by many studies, but there have been conflicting results from the literature. We performed a meta-analysis of observational studies to evaluate the association between APOA5 gene polymorphisms and the prevalence of MetS.
METHODS
PubMed, Web of Science, Embase, and Scopus were searched up to April 2024. The random effects model was used to estimate the odds ratios (ORs) and 95% confidence intervals (CI) of the association between APOA5 gene polymorphisms and the prevalence of MetS development. The potential sources of heterogeneity were evaluated by subgroup analyses and sensitivity analyses.
RESULTS
A total of 30 studies with 54,986 subjects (25,341 MetS cases and 29,645 healthy controls) were included. The presence of rs662799 and rs651821 polymorphisms is associated with an approximately 1.5-fold higher likelihood of MetS prevalence (OR = 1.42, 95% CI: 1.32, 1.53, p < 0.001; I = 67.1%; P-heterogeneity < 0.001; and OR = 1.50, 95% CI: 1.36-1.65, p < 0.001), respectively. MetS is also more prevalent in individuals with the genetic variants rs3135506 and rs2075291. There was no evidence of a connection with rs126317.
CONCLUSION
The present findings suggest that polymorphisms located in the promoter and coding regions of the APOA5 gene are associated with an increased prevalence of MetS in the adult population. Identifying individuals with these genetic variations could lead to early disease detection and the implementation of preventive strategies to reduce the risk of MetS and its related health issues. However, because the sample size was small and there was evidence of significant heterogeneity for some APOA5 gene polymorphisms, these results need to be confirmed by more large-scale and well-designed studies.
Topics: Metabolic Syndrome; Apolipoprotein A-V; Humans; Genetic Predisposition to Disease; Polymorphism, Single Nucleotide; Odds Ratio
PubMed: 38867151
DOI: 10.1186/s12864-024-10493-x -
The Journal of Pain 2020Chronic postsurgical pain (CPSP) is a significant detriment to postsurgical recovery and a risk factor for prolonged opioid use. Emerging evidence suggests the estimated... (Meta-Analysis)
Meta-Analysis
Chronic postsurgical pain (CPSP) is a significant detriment to postsurgical recovery and a risk factor for prolonged opioid use. Emerging evidence suggests the estimated heritability for chronic pain is 45% and that genetic factors partially explain individual susceptibility to CPSP. The aim of this study was to systematically review, assess quality, and summarize the studies in humans that have investigated genetic factors associated with CPSP. We also conducted a meta-analysis to derive a single effect size for evaluable genetic associations with CPSP. Our comprehensive literature search included review of 21 full-text articles evaluating variants of 69 genes for association with CPSP. We found significant gene variant associations reported for variants/haplotypes of 26 genes involved in neurotransmission, pain signaling, immune responses and neuroactive ligand-receptor interaction, with CPSP. Six variants of 5 genes (COMT: rs4680 and rs6269, OPRM1: rs1799971, GCH1: rs3783641, KCNS1: rs734784 and TNFA: rs1800629), were evaluated by more than one study and were included in the meta-analysis. At rs734784 (A>G) of KCNS1, presence of G allele marginally increased risk of CPSP (Additive genetic model; Odds ratio: 1.511; 95% CI 1-2.284; P value: .050), while the other variants did not withstand meta-analyses criteria. Our findings demonstrate the role of genetic factors with different functions in CPSP, and also emphasize that single genetic factors have small effect sizes in explaining complex conditions like CPSP. Heterogeneity in surgical cohorts, population structure, and outcome definitions, as well as small number of available studies evaluating same variants, limit the meta-analysis. There is a need for large-scale, homogenous, replication studies to validate candidate genes, and understand the underlying biological networks underpinning CPSP. PERSPECTIVE: Our systematic review comprehensively describes 21 studies evaluating genetic association with CPSP, and limitations thereof. A meta-analysis of 6 variants (5 genes) found marginally increased risk for CPSP associated with rs734784 A>G of the potassium voltage-gated channel gene (KCNS1). Understanding genetic predisposition for CPSP will enable prediction and personalized management.
Topics: Genetic Predisposition to Disease; Humans; Pain, Postoperative
PubMed: 31129315
DOI: 10.1016/j.jpain.2019.05.008