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Molecular Biology Reports Sep 2021Human Papillomavirus (HPV) is the most important risk factor for cervical cancer, although not the only one. The allelic polymorphism of enzymes acting on carcinogen... (Meta-Analysis)
Meta-Analysis
Human Papillomavirus (HPV) is the most important risk factor for cervical cancer, although not the only one. The allelic polymorphism of enzymes acting on carcinogen metabolism has shown to influence the risk of both intraepithelial lesions and cervical carcinogenesis. Several studies found an association between GSTM1/GSTT1 null genotypes and risk of cancer. This research aimed to review studies addressing the relationship between GSTT1 and GSTM1 and HPV infection in women, with or without cervical pathologies. A database search was conducted in four databases - PubMed, LILACS, SciELO, and Virtual Health Library - using the following descriptors: Glutathione transferase, HPV, and Genetic polymorphism. In total, we found 319 studies. After screening titles and abstracts, 27 articles were selected for full-text read, among which 20 were excluded and 7 were included in the review. No study has exclusively approached the relationship between the virus and GSTM1/GSTT1 variants. However, studies investigating the association between single nucleotide polymorphisms (SNPs) and cervical lesions or cancer found a probable relationship between them and infections with high-risk oncogenic subtypes. Although inconclusive, GSTT1 null alleles were more common in women with more aggressive HPV than GSTM1.
Topics: Alleles; Female; Genetic Predisposition to Disease; Glutathione Transferase; Humans; Papillomaviridae; Papillomavirus Infections; Polymorphism, Single Nucleotide; Risk Factors; Uterine Cervical Neoplasms
PubMed: 34387803
DOI: 10.1007/s11033-021-06515-6 -
European Journal of Obstetrics,... Nov 2017X-ray repair cross-complementing group 1(XRCC1) gene is one of the DNA repair pathway genes playing a vital role in endometriosis risk. Various studies have explored the... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE(S)
X-ray repair cross-complementing group 1(XRCC1) gene is one of the DNA repair pathway genes playing a vital role in endometriosis risk. Various studies have explored the association between them, however, the results remained inconsistent. So to confirm the association between XRCC1 Arg399Gln polymorphism and the risk of endometriosis, a meta-analysis was conducted.
STUDY DESIGN
PubMed, Web of Science, Science Director, Cochrane Library, Google Scholar, China National Knowledge Infrastructure (CNKI) and Wanfang Data databases were searched to identify the all relevant studies before Sep. 30, 2016 focusing on the association between XRCC1 Arg399Gln polymorphism and the risk of endometriosis. Summary odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated and analyzed by Review Manager 5.2 and Stata 12 to assess the strength of the association. Meanwhile, Begg's test was used to check the publication bias.
RESULTS
The present meta-analysis identified 6 studies with 646 cases and 616 controls. The overall analysis revealed that the AA genotype exhibited a significant association with a decreased risk for endometriosis compared with GG (OR=0.43, 95%CI=0.20-0.94, P=0.03), GA (OR=0.57, 95%CI=0.35-0.95, P=0.03) and GG+GA (OR=0.54, 95%CI=0.31-0.96, P=0.04) respectively. In addition, subgroup analyses based on varied regions indicated that a total comparisons of allelic and various genetic models had statistical significances among Asians (A allele vs. G allele: OR=0.62, 95%CI=0.48-0.81, P=0.0004; AA vs. GG: OR=0.22, 95%CI=0.11-0.46, P<0.0001; AA vs. GA: OR=0.32, 95%CI=0.16-0.63, P=0.001; AA vs. GG+GA: OR=0.28, 95%CI=0.14-0.54, P=0.0002; AA+GA vs. GG: OR=0.28, 95%CI=0.14-0.54, P=0.008) but not among Middle Eastern. The Begg's test did not reveal any obvious publication bias in the present study.
CONCLUSION(S)
Our meta-analysis suggested that Arg399Gln in XRCC1 was associated with endometriosis risk. And especially in Asians, the A allele might be a preventive factor for this disease. Further well-designed researches with larger sample size and various regions are required to validate our conclusion.
Topics: Alleles; Case-Control Studies; Endometriosis; Female; Genetic Heterogeneity; Humans; Polymerase Chain Reaction; Polymorphism, Single Nucleotide; Risk Factors; X-ray Repair Cross Complementing Protein 1
PubMed: 28926725
DOI: 10.1016/j.ejogrb.2017.09.011 -
PloS One 2015Recent studies have reported the association between IL-6-174G/C polymorphism and sepsis. However, the results are inconclusive and conflicting. To better understand the... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Recent studies have reported the association between IL-6-174G/C polymorphism and sepsis. However, the results are inconclusive and conflicting. To better understand the role of IL-6-174G/C polymorphism in sepsis, we conducted a comprehensive meta-analysis.
METHODOLOGY
Literature search was conducted through PubMed, Embase, Web of Knowledge databases until July 29, 2013. The pooled odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using fixed- or random-effect model based on heterogeneity test in total and subgroup analyses.
RESULTS
Twenty studies on the risk of sepsis and seven studies on sepsis mortality were included. None of the results showed evidence of a significant association between IL-6-174G/C polymorphism and sepsis risk in overall analysis or subgroup analyses based on sepsis type, ethnicity, source of control and age under any genetic model (the allele comparison, the codominant, the recessive or the dominant model). Although there was a statistically significant association between IL-6-174 G/C polymorphism and sepsis-related mortality under the recessive model, the significance did not exist after Bonferroni's correction.
CONCLUSIONS
Current evidence does not support a direct effect of IL-6-174 G/C polymorphism on the risk of sepsis. In addition, there was no association between IL-6-174 G/C polymorphism and sepsis mortality after Bonferroni's correction. Further analyses of gene-environment interactions and more studies based on larger sample size and homogeneous sepsis patients are required.
Topics: Adult; Alleles; Child; Gene Expression; Genetic Association Studies; Humans; Infant; Interleukin-6; Models, Genetic; Odds Ratio; Polymorphism, Single Nucleotide; Racial Groups; Risk; Sepsis; Survival Analysis
PubMed: 25734339
DOI: 10.1371/journal.pone.0118843 -
Tumour Biology : the Journal of the... Jan 2014Reactive oxygen species-related damage plays a critical role in carcinogenesis. Glutathione peroxidase 1 (GPX1) and mitochondrial superoxide dismutase (MnSOD) are two... (Meta-Analysis)
Meta-Analysis Review
Reactive oxygen species-related damage plays a critical role in carcinogenesis. Glutathione peroxidase 1 (GPX1) and mitochondrial superoxide dismutase (MnSOD) are two key antioxidant enzymes in the defense system against reactive oxygen species. This systematic review and meta-analysis was designed to evaluate the association of single-nucleotide polymorphisms in GPX1 and MnSOD genes with susceptibility to bladder cancer risk. Online databases of PubMed, Embase, China National Knowledge Infrastructure, and SinoMed were searched to identify eligible studies. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated to estimated the association strength. The fixed effects model and random effects model were used to pool the data from different studies. By pooling all eligible studies, we found that the GPX1 Pro198Leu polymorphism was associated with a significantly increased risk of bladder cancer (Leu vs. Pro, OR = 2.111, 95% CI = 1.020-4.368, heterogeneity (p < 0.001); LeuPro/LeuLeu vs. ProPro, OR = 1.876, 95% CI = 1.011-3.480, heterogeneity (p < 0.001)). No significant association of MnSOD Ala-9Val polymorphism with cancer risk was observed (AlaVal/ValVal vs. AlaAla, OR = 0.966, 95% CI = 0.754-1.239, heterogeneity (p = 0.390); Vla vs. Ala, OR = 1.038, 95% CI = 0.782-1.377, heterogeneity (p = 0.015)). This systematic review and meta-analysis demonstrated that the GPX1 Pro198Leu polymorphism significantly increased susceptibility to bladder cancer, while the MnSOD Ala-9Val polymorphism was not associated with bladder cancer risk.
Topics: Alleles; Case-Control Studies; Codon; Genetic Predisposition to Disease; Glutathione Peroxidase; Humans; Odds Ratio; Polymorphism, Single Nucleotide; Superoxide Dismutase; Urinary Bladder Neoplasms; Glutathione Peroxidase GPX1
PubMed: 24037914
DOI: 10.1007/s13277-013-1103-6 -
Hormone and Metabolic Research =... May 2023The relationships of the PPARα Leu162Val and PPARδ+294 T>C polymorphisms with metabolic indexes have been reported to be inconsistent and even contradictory. The... (Meta-Analysis)
Meta-Analysis
The relationships of the PPARα Leu162Val and PPARδ+294 T>C polymorphisms with metabolic indexes have been reported to be inconsistent and even contradictory. The meta-analysis was conducted to clarify the relationships between the two variants and the indexes of obesity, insulin resistance, and blood lipids. PubMed, Google Scholar, Embase, and Cochrane Library were searched for eligible studies. Standardized mean difference with 95% confidence interval was calculated to estimate the differences in the metabolic indexes between the genotypes of the Leu162Val and+294 T>C polymorphisms. Heterogeneity among studies was assessed by Cochran's x2-based Q-statistic test. Publication bias was identified by using Begg's test. Forty-one studies (44 585 subjects) and 33 studies (23 018 subjects) were identified in the analyses for the Leu162Val and+294 T>C polymorphisms, respectively. C allele carriers of the+294 T>C polymorphism had significantly higher levels of total cholesterol and low-density lipoprotein cholesterol than TT homozygotes in the whole population. Notably, C allele carriers of the+294 T>C polymorphism had significantly higher levels of triglycerides and total cholesterol in East Asians, but lower levels of triglycerides in West Asians than TT homozygotes. Regarding the Leu162Val polymorphism, it was found that Val allele carriers had significantly higher levels of blood glucose than Leu/Leu homozygotes only in European Caucasians. The meta-analysis demonstrates that C allele of the+294 T>C polymorphism in PPARδ gene confers a higher risk of hypercholesterolemia, which may partly explain the relationship between this variant and coronary artery disease.
Topics: Humans; PPAR delta; Hypercholesterolemia; Insulin Resistance; Alleles; Triglycerides; Obesity; Cholesterol, LDL; Polymorphism, Single Nucleotide
PubMed: 37011890
DOI: 10.1055/a-2043-7707 -
Oral Oncology Mar 2014The aim of this work was to identify risk genes related to the development and progression of squamous cell carcinoma head and neck (SCCHN) and do a meta-analysis of... (Meta-Analysis)
Meta-Analysis Review
The aim of this work was to identify risk genes related to the development and progression of squamous cell carcinoma head and neck (SCCHN) and do a meta-analysis of available estimates. Eligible gene/polymorphism studies were identified by electronic searches. Individual participant data of 8540 patients with HNC and 9844 controls from 19 genetic studies were analyzed, yielding adjusted (tobacco, gender, age and alcohol) odds ratios (OR) and 95% confidence intervals (CIs) comparing cases with controls. A meta-analysis was done on the studies that applied fixed and random models. People have an increase of polymorphism expression related to inflammation (NFKB1-294-ATTG, TNFα308-A2A2/A2A1, and TNFβ252- B2B2/B2B1) or carcinogenic metabolism (GSTM1 null, and CYP1A1 m1/m1), representative of malignancy development. Furthermore, the increased expression of genes associated with the stabilization and repair of the cellular (OGG1-Asp267Asn, Ser279Gly Ile253Phe, 1578A>T, 1582C>T Ala399Glu (1542C>A) 1582insG 1543_1544delCT), and genes associated with the regulation of proliferation, apoptosis or tumor survival (miRNA499-CT/CC, CRYABC802G-CG/GG) are considered as risk factors. In this scheme, only the polymorphisms of ADH7A92G-GG and DEC1606-T/C genes are protective against malignancy transformation. The TP53, GSTM1 and CYPA1genes have been evaluated in more than one study and analyzed for homogeneity in each genotype. The meta-analysis showed no significant association between different allelic variants of Arg72Pro rs1042522 and SCCHN risk. In a model of tumorigenesis, an increased risk of SCCHN is associated with DNA repair and DNA stabilization genes. In addition, the polymorphisms involved in inflammation and carcinogenic metabolism processes represent an increased risk of SCCHN.
Topics: Adult; Aged; Aged, 80 and over; Alleles; Apoptosis; Carcinogenesis; Carcinoma, Squamous Cell; Female; Gene Expression; Head and Neck Neoplasms; Humans; Male; Middle Aged; Polymorphism, Genetic; Risk Factors; Young Adult
PubMed: 24370206
DOI: 10.1016/j.oraloncology.2013.12.007 -
Scientific Reports Jul 2022Interleukin 10 (IL-10) is associated with the progression of leishmaniasis because it inhibits the leishmanicidal action of macrophages and the production of mediators... (Meta-Analysis)
Meta-Analysis
Interleukin 10 (IL-10) is associated with the progression of leishmaniasis because it inhibits the leishmanicidal action of macrophages and the production of mediators such as IFN-γ and nitric oxide. Studies have shown that specific polymorphisms are associated with the regulatory role of IL-10 and the development of more relevant clinical forms of leishamaniasis. We performed a systematic review and meta-analysis to determine whether single nucleotide polymorphisms (SNPs) of IL-10 influence the progression of leishmaniasis. The selected articles were read in full and only those consistent with the eligibility criteria were included in our study. Seven studies were eligible according to the inclusion criteria and were included in the present systematic review, but only five were subjected to statistical analysis. The pooled odds ratios showed no significant association between the rs1800871 SNP and the progression of leishmaniasis in all genotype models, including the dominant, recessive, homozygote, heterozygote, and allelic models. Regarding the association between rs1800896 SNP and the progression of leishmaniasis, the pooled odds ratios showed no association under all genotype models. Hence, IL-10 SNPs did not show significant association and were not considered a risk factor for the progression of leishmaniasis.
Topics: Alleles; Genetic Predisposition to Disease; Humans; Interleukin-10; Leishmaniasis; Polymorphism, Single Nucleotide
PubMed: 35778471
DOI: 10.1038/s41598-022-15377-2 -
Scientific Reports Nov 2022CYP2E1 encodes an enzyme that participates in the activation of several carcinogenic substances. Thus, numerous studies have investigated the association between CYP2E1... (Meta-Analysis)
Meta-Analysis
CYP2E1 encodes an enzyme that participates in the activation of several carcinogenic substances. Thus, numerous studies have investigated the association between CYP2E1 polymorphisms and colorectal cancer (CRC) risk, but inconclusive results have been obtained. We performed a meta-analysis to precisely evaluate the relationship of CYP2E1 rs2031920, rs3813867, and rs6413432 polymorphisms with the susceptibility to CRC. Scopus, Web of Science and PubMed databases were searched to identify eligible studies, and the association between the polymorphisms and CRC risk was then quantitatively synthesized using different genetic models. Eighteen studies with 23,598 subjects were selected for inclusion into the analysis. Significant association between rs2031920 and an increased CRC risk was observed in homozygous (OR = 1.496, 95% CI 1.177-1.901, P = 0.001), recessive (OR = 1.467, 95% CI 1.160-1.857, P = 0.001) and allele (OR = 1.162, 95% CI 1.001-1.349, P = 0.048) models. Significant association was not found for rs3813867 and rs6413432 (P > 0.05). In conclusion, our results suggest that rs2031920, but not rs3813867 and rs6413432, is associated with the risk of CRC.
Topics: Humans; Cytochrome P-450 CYP2E1; Polymorphism, Genetic; Alleles; Homozygote; Colorectal Neoplasms
PubMed: 36418904
DOI: 10.1038/s41598-022-24398-w -
Clinical and Investigative Medicine.... Dec 2016A meta-analysis was preformed to determine which HLA-DRB1 alleles are associated with increased risk of rheumatoid arthritis (RA) in Asian patients. (Meta-Analysis)
Meta-Analysis Review
PURPOSE
A meta-analysis was preformed to determine which HLA-DRB1 alleles are associated with increased risk of rheumatoid arthritis (RA) in Asian patients.
METHODS
Medline, PubMed, Central, EMBASE, Cochrane, and Google Scholar databases were searched until November 3, 2015 using the following keywords: rheumatoid arthritis; RA, HLA-DRB1; severity; treatment; and, prognosis. Randomized-controlled-trials, prospective, retrospective, cohort and case-controlled studies that examined the HLA-DRB1 allelic association with RA in Asians were included. The frequencies of allelic types and the shared epitope (SE) were compared between patients with or without RA.
RESULTS
A total of 331 articles were identified after duplicates removed, and 40 studies, with 5470 RA patients and 5837 control patients, were included in the analysis. Pooled odds ratios (ORs) revealed the frequencies of HLA-DRB1*04 and *10 were higher in the RA group, and the frequency of *14 was lower in the RA group as compared to controls (*04: OR = 3.35, 95% CI: 2.28-3.99, p < .001; *10: OR = 2.08, 95% CI: 1.55-2.78, p < .001; *14: OR = 0.70, 95% CI: 0.54-0.90, p = .006). No associations were noted for *01 and *09. Pooled ORs revealed associations of *0101 (OR = 1.58), *0401 (OR = 2.17), *0404 (OR = 1.91), *0405 (OR = 3.73), *0410 (OR = 2.24), *1001 (OR = 1.78) and SE positive (OR = 2.38) with RA. HLA-DRB1 *14 subtypes did not show associations with RA.
CONCLUSIONS
HLA-DRB1 allelic variations are associated with RA in Asian patients.
Topics: Alleles; Arthritis, Rheumatoid; Asian People; Epitopes; Female; HLA-DRB1 Chains; Humans; Male; Polymorphism, Genetic
PubMed: 27917778
DOI: 10.25011/cim.v39i6.27487 -
Human Immunology Oct 2018HLA-G is an immune checkpoint molecule. Since a differential molecule expression has been reported even for healthy individuals, many studies have focused on... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
HLA-G is an immune checkpoint molecule. Since a differential molecule expression has been reported even for healthy individuals, many studies have focused on polymorphisms at HLA-G regulatory regions, particularly the 3' untranslated region (3'UTR). The presence/absence of a 14-bp sequence was the first polymorphism described and it is the most studied in association between HLA-G and disorders.
METHODS
In this study, we performed a systematic review and meta-analysis of all association studies published regarding the HLA-G 14-bp.
RESULTS
We verified association between 14-bp alleles and diseases in the following situations: (1) presence of 14-bp (insertion) conferred susceptibility to preeclampsia (child alleles evaluated) and systemic lupus erythematosus (OR = 1.42; 95%CI = 1.04-1.93; p = 0.026 and OR = 1.13; 95%CI = 1.01-1.27, p = 0.028); (2) 14-bp absence (deletion) was associated with increased risk to breast cancer (OR = 1.23; 95%CI = 1.06-1.43; p = 0.006) and human Cytomegalovirus infection (OR = 2.06; 95%CI = 1.60-2.64; p < 0.0001); and (3) a risk association was observed between the group of reproductive disorders and the 14-bp insertion (OR = 1.12; 95%CI = 1.01-1.24; p = 0.034).
CONCLUSIONS
Considering that others 14-bp associations were inconclusive and that other variation sites observed at HLA-G 3'UTR exhibit a proven role on post-transcriptional regulation of HLA-G expression, the complete 3'UTR segment should be analyzed in terms of disease susceptibility, instead of a single polymorphism.
Topics: 3' Untranslated Regions; Alleles; Genetic Association Studies; Genetic Predisposition to Disease; HLA-G Antigens; Humans; INDEL Mutation; Lupus Erythematosus, Systemic; Odds Ratio; Open Reading Frames; Polymorphism, Genetic; Promoter Regions, Genetic; Regulatory Sequences, Nucleic Acid
PubMed: 30102938
DOI: 10.1016/j.humimm.2018.08.003