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PloS One 2016Cervical cancer (CC) has one of the highest mortality rates among women worldwide. Several efforts have been made to identify the genetic susceptibility factors... (Meta-Analysis)
Meta-Analysis Review
INTRODUCTION
Cervical cancer (CC) has one of the highest mortality rates among women worldwide. Several efforts have been made to identify the genetic susceptibility factors underlying CC development. However, only a few polymorphisms have shown consistency among studies.
MATERIALS AND METHODS
We conducted a systematic review of all recent case-control studies focused on the evaluation of single nucleotide polymorphisms (SNPs) and CC risk, stringently following the "PRISMA" statement recommendations. The MEDLINE data base was used for the search. A total of 100 case-control studies were included in the meta-analysis. Polymorphisms that had more than two reports were meta-analyzed by fixed or random models according to the heterogeneity presented among studies.
RESULTS
We found significant negative association between the dominant inheritance model of p21 rs1801270 polymorphism (C/A+A/A) and CC (pooled OR = 0.76; 95%CI: 0.63-0.91; p<0.01). We also found a negative association with the rs2048718 BRIP1 polymorphism dominant inheritance model (T/C+C/C) and CC (pooled OR = 0.83; 95%CI: 0.70-0.98; p = 0.03), as well as with the rs11079454 BRIP1 polymorphism recessive inheritance model and CC (pooled OR = 0.79; 95%CI: 0.63-0.99; p = 0.04). Interestingly, we observed a strong tendency of the meta-analyzed studies to be of Asiatic origin (67%). We also found a significant low representation of African populations (4%).
CONCLUSIONS
Our results provide evidence of the negative association of p21 rs1801270 polymorphism, as well as BRIP1 rs2048718 and rs11079454 polymorphisms, with CC risk. This study suggests the urgent need for more replication studies focused on GWAS identified CC susceptibility variants, in order to reveal the most informative genetic susceptibility markers for CC across different populations.
Topics: Alleles; Female; Genetic Predisposition to Disease; Humans; Models, Genetic; Polymorphism, Single Nucleotide; Uterine Cervical Neoplasms
PubMed: 27415837
DOI: 10.1371/journal.pone.0157344 -
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 -
Lung Cancer (Amsterdam, Netherlands) Sep 2014As the primary cause of lung cancer, whether smoking confers the same risk of lung cancer for women as men is unclear. Therefore, we aimed to compare male and female... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVES
As the primary cause of lung cancer, whether smoking confers the same risk of lung cancer for women as men is unclear. Therefore, we aimed to compare male and female susceptibility for cigarette smoking-attributable lung cancer.
METHODS
A systematic review and meta-analysis was conducted by searching articles published up to July 2013 in three online databases (MEDLINE, EMBASE, and Cochrane Database). All studies estimated the association of cigarette smoking with the risk of lung cancer between men and women, respectively. A random effects model with inverse variance weighting was used to pool data. Male to female ratio of relative risk (RRR) was calculated to compare male and female susceptibility for cigarette smoking-attributable lung cancer.
RESULTS
47 articles containing 404,874 individuals were included in the final analysis. Compared with non-smokers, male to female RRR was 1.61 (95%CI: 1.37, 1.89) among current smokers. Based on pathological type, adenocarcinoma had the highest RRR (1.42; 95%CI: 0.86, 2.35), followed by squamous cancer and small cell lung cancer. Furthermore, compared with non-smoking men, current smoking men had higher risk of lung cancer than women in spite of smoking quantity, smoking duration or years since quitting.
CONCLUSIONS
These findings indicated that males had higher susceptibility for cigarette smoking-attributable lung cancer than females. It is contradicted with traditional opinion that females would be more easily suffered from cigarette smoking-attributable health problems than males. Hence, tobacco control is very crucial in both males and females.
Topics: Disease Susceptibility; Female; Humans; Lung Neoplasms; Male; Odds Ratio; Sex Factors; Smoking
PubMed: 25064415
DOI: 10.1016/j.lungcan.2014.07.004 -
Cytokine Nov 2019TNF-α -308 G/A variant is recognized to play an important role in the pathogenesis of chronic obstructive pulmonary disease (COPD). Although many studies have... (Meta-Analysis)
Meta-Analysis
BACKGROUND AND OBJECTIVE
TNF-α -308 G/A variant is recognized to play an important role in the pathogenesis of chronic obstructive pulmonary disease (COPD). Although many studies have investigated the association of TNF-α-308 and COPD risk, a deep understanding of this association is lacking due to small subjects sizes and insufficiently study designs among different investigations. In this study, a systematic review and meta-analysis was performed based on published reports on the association of TNF-α and COPD.
METHOD
The published studies concerned the association between TNF-α and COPD were identified using a systematic research in Scopus, Google Scholar, and PubMed up to April 2018. A total of 46 different papers studying the rs1800629 variant in TNF-α gene were included. Then, human studies were selected to further analysis regardless of papers language.
RESULTS
Based on the results, the major outcome of this meta-analysis can be represented as follows: individuals with GG and GA genotypes possess less risk of developing COPD (OR = 0.58, 95%CI: (0.44-0.79), P < 0.00) compared to AA genotype carriers. In contrast, the AA genotype carriers of the TNF-α rs1800629 has a significantly higher risk of developing COPD (OR = 1.83, 95%CI: (1.34-2.51), P < 0.00) compared to GG carrier. Despite the previous meta-analysis results which reported significantly decreasing of heterogeneity with ethnicity, we found that the source of controls has a significant contribution to observed heterogeneity.
CONCLUSIONS
Thanks to the global burden of COPD studies, proving TNF-α 308 gene variant as an independent factor in its pathogenesis opens new insights to diagnosis and management of COPD.
Topics: Female; Genetic Predisposition to Disease; Genotype; Humans; Male; Polymorphism, Genetic; Pulmonary Disease, Chronic Obstructive; Tumor Necrosis Factor-alpha
PubMed: 31260854
DOI: 10.1016/j.cyto.2019.154763 -
Herz Dec 2022Current genetic association studies have reported conflicting results regarding the association between miRNA polymorphisms and myocardial infarction (MI) risk METHODS:... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Current genetic association studies have reported conflicting results regarding the association between miRNA polymorphisms and myocardial infarction (MI) risk METHODS: Relevant studies were retrieved from the PubMed, EMBASE, ISI Web of Science, and Scopus databases. Eligible studies determining the association between miRNA polymorphisms and MI susceptibility were included and a meta-analysis was performed to quantify the associations between miRNA polymorphisms and MI risk.
RESULTS
A total of eight studies with 2507 MI patients and 3796 healthy controls were included, dealing with nine miRNA genes containing 11 different loci, including miR-149 (rs71428439 and rs2292832), miR-126 (rs4636297 and rs1140713), miR-146a (rs2910164), miR-218 (rs11134527), miR-196a2 (rs11614913), miR-499 (rs3746444), miR-27a (rs895819), miR-26a‑1 (rs7372209), and miR-100 (rs1834306). miR-146a rs2910164 and miR-499 rs3746444 were determined to have a significant association with MI susceptibility, a finding that was supported by the meta-analysis (rs2910164: GG/CC, odds ratio [OR]: 1.40, 95% confidence interval [95% CI]: 1.05-1.74, p < 0.001; rs3746444: AA + AG/GG, OR = 2.04, 95% CI: 1.37-2.70, p < 0.001). Limited or conflicting data were found for the relationship between the other miRNA polymorphisms (rs71428439, rs4636297, rs1140713, rs11134527, rs11614913, rs895819, rs7372209, rs1834306, rs2292832) and MI risk.
CONCLUSION
There was a significant association between rs2910164 and rs3746444 and MI susceptibility. Further studies are required to investigate the role of miRNA polymorphisms in MI risk.
Topics: Humans; Genetic Association Studies; Genetic Predisposition to Disease; MicroRNAs; Myocardial Infarction; Polymorphism, Single Nucleotide
PubMed: 34878577
DOI: 10.1007/s00059-021-05086-3 -
Environmental Health : a Global Access... Jun 2017Evidence shows that both the physical and social environments play a role in the development of cardiovascular disease. The purpose of this systematic review is... (Review)
Review
BACKGROUND AND METHODS
Evidence shows that both the physical and social environments play a role in the development of cardiovascular disease. The purpose of this systematic review is two-fold: First, we summarize research from the past 12 years from the growing number of studies focused on effect modification of the relationships between air pollution and cardiovascular disease (CVD) outcomes by socioeconomic position (SEP) and; second, we identify research gaps throughout the published literature on this topic and opportunities for addressing these gaps in future study designs.
RESULTS
We identified 30 articles that examined the modifying effects of either material resources or psychosocial stress (both related to SEP) on associations between short and long-term air pollution exposure and CVD endpoints. Although 18 articles identified at least one interaction between an air pollutant and material resource indicator, 11 others did not. Support for susceptibility to air pollution by psychosocial stress was weaker; however, only three articles tested this hypothesis. Further studies are warranted to investigate how air pollution and SEP together may influence CVD.
CONCLUSIONS
We recommend that such research include thorough assessment of air pollution and SEP correlations, including spatial correlation; investigate air pollution indices or multi-pollutant models; use standardized metrics of SEP to enhance comparability across studies; and evaluate potentially susceptible populations.
Topics: Air Pollutants; Air Pollution; Cardiovascular Diseases; Disease Susceptibility; Environmental Exposure; Prevalence; Social Class; Stress, Physiological
PubMed: 28615066
DOI: 10.1186/s12940-017-0270-0 -
BJS Open May 2024Diverticulosis is a normal anatomical variant of the colon present in more than 70% of the westernized population over the age of 80. Approximately 3% will develop...
BACKGROUND
Diverticulosis is a normal anatomical variant of the colon present in more than 70% of the westernized population over the age of 80. Approximately 3% will develop diverticulitis in their lifetime. Many patients present emergently, suffer high morbidity rates and require substantial healthcare resources. Diverticulosis is the most common finding at colonoscopy and has the potential for causing a significant morbidity rate and burden on healthcare. There is a need to better understand the aetiology and pathogenesis of diverticular disease. Research suggests a genetic susceptibility of 40-50% in the formation of diverticular disease. The aim of this review is to present the hypothesized functional effects of the identified gene loci and environmental factors.
METHODS
A systematic literature review was performed using PubMed, MEDLINE and Embase. Medical subject headings terms used were: 'diverticular disease, diverticulosis, diverticulitis, genomics, genetics and epigenetics'. A review of grey literature identified environmental factors.
RESULTS
Of 995 articles identified, 59 articles met the inclusion criteria. Age, obesity and smoking are strongly associated environmental risk factors. Intrinsic factors of the colonic wall are associated with the presence of diverticula. Genetic pathways of interest and environmental risk factors were identified. The COLQ, FAM155A, PHGR1, ARHGAP15, S100A10, and TNFSF15 genes are the strongest candidates for further research.
CONCLUSION
There is increasing evidence to support the role of genomics in the spectrum of diverticular disease. Genomic, epigenetic and omic research with demographic context will help improve the understanding and management of this complex disease.
Topics: Humans; Risk Factors; Epigenesis, Genetic; Genetic Predisposition to Disease; Diverticular Diseases; Gene-Environment Interaction; Obesity
PubMed: 38831715
DOI: 10.1093/bjsopen/zrae032 -
Expert Review of Gastroenterology &... 2015We performed a systematic review and meta-analysis to estimate the polymorphism effects of IL18RAP and CCR3 on celiac disease susceptibility. (Meta-Analysis)
Meta-Analysis Review
OBJECTIVES
We performed a systematic review and meta-analysis to estimate the polymorphism effects of IL18RAP and CCR3 on celiac disease susceptibility.
METHODS
PubMed and Web of Science databases were searched (to June 2015) on IL18RAP rs917997 and CCR3 rs6441961 polymorphisms.
RESULTS
The meta-analysis included 16 and 7 studies for rs917997 and rs6441961, respectively. The minor risk A allele at both rs917997 and rs6441961 carried risks (odds ratios) of 1.24 (95% CI 1.18-1.31) and 1.21 (95% CI 1.12-1.31), respectively. These alleles contributed to increase risks in all celiac disease patients by 5.04 and 6.35%. The estimated lambdas were 0.73 and 0.51, suggesting that an additive model would be the best choice for both gene effects.
CONCLUSIONS
This meta-analysis provides robust estimates that IL18RAP rs917997 and CCR3 rs6441961 are potential risk factors for celiac disease in European populations. Studies are needed to confirm these findings in different ethnicities.
Topics: Celiac Disease; Gene Frequency; Genetic Predisposition to Disease; Humans; Interleukin-18 Receptor beta Subunit; Polymorphism, Single Nucleotide; Receptors, CCR3; Risk Factors; White People
PubMed: 26289103
DOI: 10.1586/17474124.2015.1075880 -
Gene Dec 2023Autism spectrum disorder (ASD) is neurodevelopmental disorder characterized by stereotyped behavior and deficits in communication and social interactions. To date,... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Autism spectrum disorder (ASD) is neurodevelopmental disorder characterized by stereotyped behavior and deficits in communication and social interactions. To date, numerous studies have investigated the associations between genetic variants and ASD risk. However, the results of these published studies lack a clear consensus. In the present study, we performed a systematic review on the association between genetic variants and ASD risk. Meanwhile, we conducted a meta-analysis on available data to identify the association between the single nucleotide polymorphisms (SNPs) of candidate genes and ASD risk.
METHODS
We systematically searched public databases including English and Chinese from their inception to August 1, 2022. Two independent reviewers extracted data and assessed study quality. Odds ratio and 95 % confidence interval were used as effect indexes to evaluate the association between the SNPs of candidate genes and the risk of ASD. Heterogeneity was explored through subgroup, sensitivity, and meta-regression analyses. Publication bias was assessed by using Egger's and Begg's tests for funnel plot asymmetry. In addition, TSA analysis were performed to confirm the study findings.
RESULTS
We summarized 84 SNPs of 32 candidate genes from 81 articles included in the study. Subsequently, we analyzed 16 SNPs of eight genes by calculating pooled ORs, and identified eight significant SNPs of contactin associated protein 2 (CNTNAP2), methylentetrahydrofolate reductase (MTHFR), oxytocin receptor (OXTR), and vitamin D receptor (VDR). Results showed that seven SNPs, including the CNTNAP2 rs2710102 (homozygote, heterozygote, dominant and allelic models) and rs7794745 (heterozygote and dominant models), MTHFR C677T (homozygote, heterozygote, dominant, recessive and allelic models) and A1298C (dominant and allelic models), OXTR rs2254298 (homozygote and recessive models), VDR rs731236 (homozygote, dominant, recessive and allelic models) and rs2228570 (homozygote and recessive models), were showed to be correlated with an increased ASD risk. By contrast, the VDR rs7975232 was correlated with a decreased the risk of ASD under the homozygote and allelic models.
CONCLUSION
Our study summarized research evidence on the genetic variants of ASD and provides a broad and detailed overview of ASD risk genes. The C677T and A1298C polymorphisms of MTHFR, rs2710102 and rs7794745 polymorphisms of CNTNAP2, rs2254298 polymorphism of OXTR, and rs731236 and rs2228570 polymorphisms of VDR were genetic risk factors. The rs7975232 polymorphism of VDR was a genetic protective factor for ASD. Our study provides novel clues to clinicians and healthcare decision-makers to predict ASD susceptibility.
Topics: Humans; Autism Spectrum Disorder; Genetic Predisposition to Disease; Polymorphism, Single Nucleotide; Alleles; Heterozygote; Methylenetetrahydrofolate Reductase (NADPH2)
PubMed: 37598788
DOI: 10.1016/j.gene.2023.147723 -
Biological Trace Element Research Feb 2022To evaluate the association between selenoprotein gene polymorphisms and Kashin-Beck disease (KBD) susceptibility through a systematic review and updated meta-analysis.... (Meta-Analysis)
Meta-Analysis Review
To evaluate the association between selenoprotein gene polymorphisms and Kashin-Beck disease (KBD) susceptibility through a systematic review and updated meta-analysis. PubMed, Google Scholar, Cochrane library, and Chinese National Knowledge Infrastructure (CNKI) were electronically searched using the terms "selenoprotein" and "Kashin-Beck disease" or "KBD" with a search time from the establishment of the database to January 2021. The Newcastle-Ottawa Scale (NOS) was used for methodological quality evaluation of the included studies. Stata 14.0 software was used to pooled odds ratio (OR) and 95% confidence interval. There were a total of eight included case-control studies covering 2025 KBD patients and 1962 controls. Meta-analysis results show that the pooled odds ratios (OR) and 95% confidence intervals (CI) for DIO2 (rs225014) were 0.69 (0.52, 0.91), 0.69 (0.50, 0.96), and 0.72 (0.52, 0.99) in the allele, heterozygote, and dominant models, respectively. The OR and 95%CI for SEPS1 (-105G>A) were 2.47 (1.85, 3.29), 9.36 (4.58, 19.12), 2.17 (1.53, 3.08), and 8.60 (4.25, 17.38) in the allele, homozygote, dominant, and recessive models, respectively. In addition, the OR and 95%CI for Sep15 (rs5859) were 2.05 (1.06, 3.96) in the allele model. These results illustrate that there was a significant association between DIO2 (rs225014), SEPS1 (-105G>A), Sep15 (rs5859), and KBD. For GPX1 (rs1050450, rs1800668, rs3811699), DIO2 (rs225014, rs1352815, rs1388382), TrxR2 (rs1139793, rs5746841), GPX4 (rs713041, rs4807542), and SEPP1 (rs7579, 25191g/a), there was no significant statistical difference between the KBD and control groups (P>0.05). We conclude that the DIO2 (rs225014), SEPS1 (-105G>A), and Sep15 (rs5859) gene polymorphism are associated with susceptibility to KBD.
Topics: Asian People; Case-Control Studies; Genetic Predisposition to Disease; Humans; Kashin-Beck Disease; Polymorphism, Single Nucleotide; Selenoprotein P; Selenoproteins
PubMed: 33844169
DOI: 10.1007/s12011-021-02705-2