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International Journal of Molecular... Jan 2019Recently extensive focus has been concentrated on the role of miRNAs in the initiation and progression of cardio-cerebrovascular diseases (CCDs) which constitute a range... (Meta-Analysis)
Meta-Analysis
Recently extensive focus has been concentrated on the role of miRNAs in the initiation and progression of cardio-cerebrovascular diseases (CCDs) which constitute a range of conditions including cardiovascular diseases (CVDs, especially coronary artery disease (CAD)), congenital heart disease (CHD) and cerebrovascular diseases (CBVDs, especially the ischemic stroke (IS)). An increasing number of studies are evaluating the association between different miRNA polymorphisms and risk of CCDs, but results have been inconclusive. This study represents a comprehensive systematic review and meta-analysis of the association between miRNA polymorphisms and risk of CCDs. PubMed, Embase, Scopus, and Web of Science were queried to identify eligible articles. Odds ratios and 95% confidence intervals were used to assess the association of miRNA polymorphisms with CCD susceptibility. A total of 51 eligible articles evaluating the association of 31 miRNA polymorphisms were identified. Meta-analysis was performed for six miRNA polymorphisms. miR-146a rs2910164 (30 studies: 13,186 cases/14,497 controls), miR-149 rs2292832 (Nine studies: 4116 cases/3511 controls), miR-149 rs71428439 (Three studies: 1556 cases/1567 controls), miR-196a2 rs11614913 (20 studies: 10,144 cases/10,433 controls), miR-218 rs11134527 (Three studies: 2,322 cases/2,754 controls) were not associated with overall CCD. miR-499 rs3746444 was associated with CCD (20 studies: 9564 cases/8876 controls). In the subgroups, rs2910164 and rs3746444 were only associated with CVDs, especially CAD. In conclusion, the results support the existence of a role for miR-146a rs2910164 and miR-499 rs3746444 in determining susceptibility to CCDs, especially CAD.
Topics: Cardiovascular Diseases; Cerebrovascular Disorders; Coronary Artery Disease; Genetic Association Studies; Genetic Predisposition to Disease; Humans; MicroRNAs; Odds Ratio; Polymorphism, Single Nucleotide
PubMed: 30642078
DOI: 10.3390/ijms20020293 -
Behavioral and Brain Functions : BBF Nov 2016The association between the dopamine D2 receptor (DRD2) gene and schizophrenia has been studied though no conclusive outcomes have been attained. The aim of this study... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
The association between the dopamine D2 receptor (DRD2) gene and schizophrenia has been studied though no conclusive outcomes have been attained. The aim of this study was to perform a systematic review and meta-analysis to explore the relation between three polymorphisms of the DRD2 gene (C957T, TaqI and Ser311Cys) and schizophrenia.
METHODS
The search was made in PubMed and EBSCO databases (up to February 2016). The systematic review included 34 case-control association studies (34 for C957T, 16 for TaqI and 36 for Ser311Cys). The association analysis comprised the allelic, additive, dominant, and recessive genetic models. The meta-analysis was performed following the preferred reporting items for systematic reviews and meta-analyses (PRISMA) statement.
RESULTS
The meta-analysis showed that TaqI (additive model: OR 0.57, 95% CI 0.30-1.14) and C957T (additive model: OR 0.75, 95% OR 0.58-0.97, recessive model: OR 0.79, 95% CI 0.64-0.98) exert a protective effect against developing schizophrenia. However, the sub-analysis for the C957T variant showed that this polymorphism exhibits a risk factor effect on Chinese individuals (allelic model: OR 1.33, 95% CI 1.04-1.70).
CONCLUSION
Our meta-analysis suggests an association of the DRD2 gene and the risk for schizophrenia, given that TaqI and C957T polymorphisms presented a protective effect against schizophrenia, and in the sub-analyses the C957T variant increased the risk for this disorder in the Chinese population.
Topics: Alleles; Case-Control Studies; Gene Frequency; Genetic Association Studies; Genetic Predisposition to Disease; Humans; Polymorphism, Single Nucleotide; Receptors, Dopamine D2; Risk Factors; Schizophrenia
PubMed: 27829443
DOI: 10.1186/s12993-016-0114-z -
BMC Medical Genomics Apr 2021Multiple factors have been attributed to acne vulgaris predisposition and individual variations in the severity of skin symptoms, and genetics stood out as one of the... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Multiple factors have been attributed to acne vulgaris predisposition and individual variations in the severity of skin symptoms, and genetics stood out as one of the major factors.
METHODS
We performed a systematic review on the genes and their variants that have been investigated for association with acne presentation and severity. A random-effect meta-analysis using the allele model (minor allele vs. major allele) was also conducted to provide an overall estimation of risk effects of frequently reported gene variants. This included a subset data of 982 acne cases and 846 controls extracted from our existing GWAS database on various allergic and skin diseases among Singapore Chinese.
RESULTS
Systematic review of 51 articles covering Asians and Caucasians found 60 genes/loci and their 100 variants implicated in acne; majority of them were in the intron, coding region/missense, and promoter regions. The commonly studied candidate genes/gene families include tumor necrosis factor (TNF), and the interleukin (IL) and cytochrome P450 (CYP) gene families. Our meta-analysis showed that most of the analyzed gene variants exhibited insignificant pooled odds ratio (pOR) and significant heterogeneity between studies. Nevertheless, we found that TNF rs1800629 A allele carriers and CYP17A1 rs743572 T allele carriers had significantly reduced mild acne risk [pOR: 0.60; 95% Confidence Interval (CI): 0.33-0.86] and severe acne risk (pOR: 0.59; 95% CI: 0.40-0.79), respectively, across populations. Overall, FST (follistatin) rs629725 A allele poses a significantly modest increased risk for acne presentation (pOR: 1.19, 95% CI: 1.14, 1.23), but neither TIMP2 (TIMP metallopeptidase inhibitor 2) rs8179090 nor CYP1A1 rs4646903 (pOR: 0.96, 95% CI: 0.80-1.12; pOR: 0.95, 95% CI: 0.83, 1.08), respectively. We discovered 15 novel SNPs in the 3' UTR region of the Toll-like Receptor 4 gene (TLR4) associated with acne presentation.
CONCLUSIONS
This systematic review and meta-analysis suggest that genes influencing inflammatory responses, specifically TNF, and genes influencing the function and activity of sebaceous glands, specifically CYP17A1 and FST, have potential risk variants for acne presentation and severity across populations. Understanding the genetic susceptibility factors and biological pathways involved in the pathogenesis of acne will help us to gain insights into developing effective acne treatments.
Topics: Acne Vulgaris; Alleles; Genetic Predisposition to Disease; Humans; Polymorphism, Single Nucleotide
PubMed: 33849530
DOI: 10.1186/s12920-021-00953-8 -
BMC Cancer Dec 2014HIF-1 (hypoxia-inducible factor 1) is a transcriptional activator that functions as a critical regulator of oxygen homeostasis. Recently, a large number of... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
HIF-1 (hypoxia-inducible factor 1) is a transcriptional activator that functions as a critical regulator of oxygen homeostasis. Recently, a large number of epidemiological studies have investigated the relationship between HIF-1α C1772T/G1790A polymorphisms and cancer susceptibility. However, the results remain inconclusive. Therefore, we performed a meta-analysis on all of the available case-control studies to systematically summarize the possible association.
METHODS
A literature search was performed using PubMed and the Web of Science database to obtain relevant published studies. Pooled odds ratios (ORs) and corresponding 95% confidence intervals (CIs) for the relationship between HIF-1α C1772T/G1790A polymorphisms and cancer susceptibility were calculated using fixed- and random-effects models when appropriate. Heterogeneity tests, sensitivity analyses and publication bias assessments were also performed in our meta-analysis.
RESULTS
A total of 40 studies met the inclusion criteria were included in the meta-analysis: 40 studies comprised of 10869 cases and 14289 controls for the HIF-1α C1772T polymorphism and 30 studies comprised of 7117 cases and 10442 controls for the HIF-1α G1790A polymorphism. The results demonstrated that there were significant association between the HIF-1α C1772T polymorphism and cancer susceptibility under four genetic models (TT vs. CC: OR = 1.63, 95% CI = 1.02-2.60; CT + TT vs. CC: OR = 1.15, 95% CI = 1.01-1.34; TT vs. CT + CC: OR = 2.11, 95% CI = 1.32-3.77; T vs. C: OR = 1.21, 95% CI = 1.04-1.41). Similarly, the statistically significant association between the HIF-1α G1790A polymorphism and cancer susceptibility was found to be consistently strong in all of the genetic models. Moreover, increased cancer risk was observed when the data were stratified by cancer type, ethnicity and the source of controls.
CONCLUSIONS
This meta-analysis demonstrates that both the C1772T and G1790A polymorphisms in the HIF-1α gene likely contribute to increased cancer susceptibility, especially in the Asian population and in breast cancer, lung cancer, pancreatic cancer and oral cancer. However, further research is necessary to evaluate the relationship between these polymorphisms and cancer risk.
Topics: Alleles; Case-Control Studies; Genetic Predisposition to Disease; Genotype; Humans; Hypoxia-Inducible Factor 1, alpha Subunit; Neoplasms; Odds Ratio; Polymorphism, Single Nucleotide; Publication Bias; Risk
PubMed: 25496056
DOI: 10.1186/1471-2407-14-950 -
Medicine Nov 2022The aim of this meta-analysis is to investigate the association between Angiotensin II type 1 receptor (AT1R)-1166A/C, Angiotensin II type 2 receptor (AT2R)-1675A/G... (Meta-Analysis)
Meta-Analysis
BACKGROUND
The aim of this meta-analysis is to investigate the association between Angiotensin II type 1 receptor (AT1R)-1166A/C, Angiotensin II type 2 receptor (AT2R)-1675A/G polymorphisms and susceptibility to preeclampsia (PE).
METHODS
Online databases, including Web of Science, PubMed, EMBASE, CINAHL, CENTRAL, Scopus, Lilacs/SciELO, and Chinese National Knowledge Infrastructure, China Wan Fang, China Science and Technology Journal Database, were used to perform the literature search up to April 2022. The odds ratio (OR) and 95% confidence interval (CI) were used as effect size. The data was analyzed by Stata 15.0 software.
RESULTS
According to the inclusion and exclusion criteria, a total of 22 case-control studies were identified, including 3524 cases and 6308 controls. Our meta-analysis showed that the AT1R -1166 A/C allele was significantly associated with susceptibility to PE (A vs C: OR = 0.82, 95% CI: 0.69-0.96, P = .013), and there was significant difference in recessive gene model (AA vs AC + CC: OR = 0.81, 95% CI: 0.67-0.97, P = .021). However, no association was found between AT2R-1675A/G polymorphism and susceptibility to PE.
CONCLUSION
our meta-analysis suggested that AT1R-1166A/C polymorphism had an association with susceptibility to PE, but AT2R-1675A/G polymorphism had no association with susceptibility to PE.
Topics: Female; Humans; Pregnancy; Angiotensins; Genetic Predisposition to Disease; Polymorphism, Single Nucleotide; Pre-Eclampsia; Receptor, Angiotensin, Type 1; Receptor, Angiotensin, Type 2
PubMed: 36397318
DOI: 10.1097/MD.0000000000031008 -
BMC Endocrine Disorders Jun 2021Non-alcoholic fatty liver disease (NAFLD) is a common disorder that is known to be the leading cause of chronic liver disease worldwide. This study aims to... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Non-alcoholic fatty liver disease (NAFLD) is a common disorder that is known to be the leading cause of chronic liver disease worldwide. This study aims to systematically review and meta-analyze the association between PNPLA3 rs738409 polymorphism and non-alcoholic fatty liver.
METHODS
Following a systematic review and meta-analysis method, articles without any time limitation, were extracted from SID, MagIran, IranDoc, Scopus, Embase, Web of Science (WoS), PubMed and ScienceDirect international databases. Random effects model was used for analysis, and heterogeneity of studies was investigated considering the I index and using Comprehensive Meta-Analysis software.
RESULTS
The odds ratio of CC genotype in patients with non-alcoholic fatty liver demonstrates the protective effect of CC genotype with the ratio of 0.52, whereas CG genotype presents an increasing effect of CG genotype with the ratio of 0.19, and GG genotype also showed an increasing effect of GG genotype with the ratio of 1.05. Moreover, CG + GG genotypes as a single group demostrated an odds rartio of 0.88.
CONCLUSION
This meta-analysis highlights that people with CC genotype has 52% lower chance of developing non-alcoholic fatty liver disease, and those with CG genotype had 19% higher risk of developing non-alcoholic fatty liver. Those with GG genotype were 105% more likely to develop non-alcoholic fatty liver than others. Moreover, those present in a population with CG + GG genotypes were 88% more likely to have non-alcoholic fatty liver disease.
Topics: Genetic Predisposition to Disease; Humans; Lipase; Membrane Proteins; Non-alcoholic Fatty Liver Disease; Polymorphism, Single Nucleotide; Prognosis
PubMed: 34147109
DOI: 10.1186/s12902-021-00789-4 -
BioMed Research International 2016. Studies on the associations of vitamin D receptor (VDR) gene polymorphisms with diabetic retinopathy (DR) susceptibility reported conflicting results. A systematic... (Meta-Analysis)
Meta-Analysis Review
. Studies on the associations of vitamin D receptor (VDR) gene polymorphisms with diabetic retinopathy (DR) susceptibility reported conflicting results. A systematic meta-analysis was undertaken to clarify this topic. . A systematic search of electronic databases (PubMed, EMBASE, and CNKI) was carried out until March 31, 2016. The pooled odds ratio (OR) and 95% confidence interval (CI) were used to assess the strength of the association. . A total of 7 studies fulfilling the inclusion criteria were included in this meta-analysis (649 cases and 707 controls). Pooled ORs showed a significant association between FokI polymorphism and DR risk in all the four genetic models (OR = 1.612 (1.354~1.921), 1.988 (1.481~2.668), 1.889 (1.424~2.505), and 2.674 (1.493~4.790) in allelic, dominant, recessive, and additive models, resp., < 0.01), but not for TaqI or BsmI polymorphism ( > 0.05). Similar results were found in the subgroup analysis. Sensitivity analysis indicated that the results were relatively stable and reliable. Results of Begg's and Egger's tests suggested a lack of publication bias. . Our meta-analysis demonstrated that DR was significantly associated with VDR gene FokI polymorphism. However, due to the relatively small sample size in this meta-analysis, further studies with a larger sample size should be done to confirm the findings.
Topics: Diabetic Retinopathy; Genetic Predisposition to Disease; Humans; Polymorphism, Genetic; Receptors, Calcitriol
PubMed: 27891515
DOI: 10.1155/2016/5305282 -
Medicine Apr 2017A number of studies had reported the association between tumor necrosis factor-alpha (TNF-α) gene polymorphisms and ischemic heart disease (IHD) risk. However, the... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
A number of studies had reported the association between tumor necrosis factor-alpha (TNF-α) gene polymorphisms and ischemic heart disease (IHD) risk. However, the results remained controversial. Therefore, we performed a systematic review with multiple meta-analyses to provide the more precise estimations of the relationship.
METHODS
We systematically searched electronic databases (PubMed, the Web of Science, EMBASE, Medline, Chinese National Knowledge Infrastructure, WanFang and ChongQing VIP Database) for relevant studies published up to February 2017. The odds ratios (ORs) and 95% confidence intervals (CIs) were estimated for assessing the association. The present meta-analysis was performed using STATA 12.0 software.
RESULTS
In total, 45 articles with 17,375 cases and 15,375 controls involved were included. Pooled ORs revealed a significant association between TNF-α -308G/A gene polymorphism and IHD (A vs. G: OR = 1.22, 95% CI = 1.10-1.35; (AA + GA) vs. GG: OR = 1.18, 95% CI = 1.03-1.36; (AA vs. (GA+GG): OR = 1.37, 95% CI = 1.08-1.75)), indicating that the TNF-α -308A allele might be an important risk factor for IHD. No association between other TNF-α gene polymorphisms and susceptibility to IHD were observed. No publication bias were found. Sensitivity analyses indicated that our results were stable.
CONCLUSION
The present study indicated a possible association between the TNF-α -308G/A gene polymorphism and IHD risk. However, evidence was limited to confirm the role of TNF-α -238G/A, -857C/T, -863C/A, -1031T/C and other TNF-α gene polymorphisms in the risk of IHD.
Topics: Genetic Predisposition to Disease; Humans; Myocardial Ischemia; Polymorphism, Genetic; Tumor Necrosis Factor-alpha
PubMed: 28383437
DOI: 10.1097/MD.0000000000006569 -
Pain Physician 2015Adolescent idiopathic scoliosis (AIS) is a tridimensional structural deformity of the spine that may deteriorate progressively, leading to significant functional... (Meta-Analysis)
Meta-Analysis Review
The Association of rs4753426 Polymorphism in the Melatonin Receptor 1B (MTNR1B) Gene and Susceptibility to Adolescent Idiopathic Scoliosis: A Systematic Review and Meta-analysis.
BACKGROUND
Adolescent idiopathic scoliosis (AIS) is a tridimensional structural deformity of the spine that may deteriorate progressively, leading to significant functional limitations and pain problems. Several previous studies have implicated the rs4753426 single nucleotide polymorphism in the melatonin receptor 1B (MTNR1B) gene in the etiology of AIS. However the sample sizes were limited and the findings of those studies were inconsistent. An overall assessment of the evidence supporting this association has not been previously conducted.
OBJECTIVES
To provide a comprehensive assessment and synthesis of the currently available evidence on the association between rs4753426 and AIS.
STUDY DESIGN
A systematic review and meta-analysis.
SETTING
University hospital, China.
METHODS
This review followed the Preferred Reporting Items for Systematic Review and Meta-Analyses guidelines. PubMed (MEDLINE), EMBASE, Scopus databases, and WANFANG databases were systematically searched through December 2014 to identify relevant studies following a sensitive strategy. Statistical analysis was performed using the Review Manager 5.2 software. Summary odds ratios (ORs) and corresponding 95% confidence intervals (CIs) were estimated using the fixed-effect inverse variance model for allelic (C vs. T) and genotypic comparisons.
RESULTS
Four papers including 5 studies which involved 2,552 AIS cases and 2,738 controls were identified for this meta-analysis. The results showed that C allele of the rs4753426 was significantly associated with AIS (OR = 1.12, 95% CI: 1.03-1.21, P = 0.01). CT and CC genotypes were 26% (OR = 1.26, 95% CI: 1.04-1.53, P = 0.01) and 28% (OR = 1.28, 95% CI: 1.05-1.56, P = 0.01), respectively, more likely to have AIS compared with CC genotype. As for the dominant model (CC+TT vs. TT), summary ORs showed statistically significant association with AIS (OR = 1.28, 95% CI: 1.06-1.53, P = 0.009). Compared with the CT+TT genotype, the summary ORs of the CC genotype showed marginally statistically significant association with AIS (OR = 1.11, 95 % CI: 0.99-1.24, P = 0.07). The subgroup meta-analysis results showed the C allele and each genotype were significantly associated with AIS in the Asian group but not in the Caucasian group.
LIMITATIONS
Paucity of available literature.
CONCLUSIONS
To our knowledge, there has been no meta-analysis to analyze the association between rs4753426 polymorphism in the MTNR1B gene and AIS. This systematic review was a comprehensive analysis of the currently available evidence, and found an overall significant association of rs4753426 polymorphism with the risk of AIS, especially in the Asian population. Further investigation of this association is necessary in other populations.
Topics: Adolescent; Asian People; Gene Frequency; Genetic Predisposition to Disease; Humans; Polymorphism, Genetic; Receptor, Melatonin, MT2; Scoliosis
PubMed: 26431121
DOI: No ID Found -
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