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BACKGROUND: This study aims to explore the association between variations in the Surfactant Protein-B (SFTPB) gene and the risk of neonatal respiratory distress syndrome (NRDS). METHODS: A comprehensive literature search was conducted across PubMed, Scopus, EMBASE, and CNKI databases up to February 10, 2024, to identify pertinent studies. RESULTS: A total of seventeen studies examining the +1580 C/T polymorphism (2,058 cases and 2,596 controls) and five studies investigating the -18 A/C polymorphism (680 cases and 739 controls) were included in the analysis. The pooled data indicated that the +1580 C/T polymorphism confers a protective effect against NRDS in various populations and ethnic groups. Conversely, the -18 A/C polymorphism did not demonstrate a significant association either globally or among Asian neonates. CONCLUSIONS: The +1580 C/T variant appears to be protective against NRDS, whereas the -18 A/C polymorphism shows minimal impact on the disease's progression.
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The Hardy-Weinberg Equilibrium (HWE) is a fundamental principle employed in the analysis of genetic data, encompassing studies of meta-analysis and genomic sequencing. It has been demonstrated that HWE possesses the property of transitivity, wherein a multi-allelic polymorphism in equilibrium will persist in its equilibrium state even when alleles are deleted or combined. Nonetheless, the practice of filtering loci that do not adhere to HWE has been observed to impact the inference of population genetics within RADseq datasets. In response to this concern, the Robust Unified Test for HWE (RUTH) has been devised to consider population structure and genotype uncertainty, thereby offering a more precise evaluation of the quality of genotype data. Furthermore, deviations from HWE, such as extreme heterozygote excess, can be effectively utilized to identify genotyping errors or to pinpoint the presence of rare recessive disease-causing variants. In summary, it is evident that HWE holds immense significance in the field of genetic analysis, and its application in meta-analysis studies and genomic sequencing can yield invaluable insights into the intricacies of population structure and the genetics of diseases.
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Metanálise como Assunto , Humanos , Genótipo , Genética Populacional/métodos , Genômica/métodosRESUMO
Purpose: The genetic aspect of gestational diabetes mellitus (GDM) is influenced by multiple causal genetic variants, each with different effect sizes. The KCNJ11 gene is particularly noteworthy as a potential contributor to the risk of GDM due to its role in regulating glucose-induced insulin secretion. To evaluate the association between KCNJ11 polymorphisms and GDM, a comprehensive meta-analysis was conducted to review the existing literature and quantitatively assess the correlation. Methods: A thorough search was performed on the PubMed, EMBASE, Scopus, and CNKI databases until December 25, 2023, using precise terms and keywords related to Gestational Diabetes, KCNJ11 gene, and polymorphism. Odds ratios and 95% confidence intervals were used to evaluate the relationships. The statistical analysis was conducted using Comprehensive Meta-Analysis software, and the Cochrane risk of bias assessment tool was used to determine bias presence. Results: The meta-analysis comprised 9 studies with 3108 GDM cases and 5374 controls for the rs5219 polymorphism, and 3 studies with 1209 GDM cases and 1438 controls for the rs5210 polymorphism. The pooled data indicated a noteworthy link between the rs5219 polymorphism and GDM globally and among various ethnic groups, notably in Caucasian and Asian populations. However, no substantial association was observed between the rs5210 polymorphism and GDM. Conclusions: Pooled data showed a correlation between the KCNJ11 rs5219 polymorphism and GDM susceptibility, but no association was found for the rs5210 polymorphism. Future research with larger sample sizes and more diverse populations is needed to improve result generalizability. Supplementary Information: The online version contains supplementary material available at 10.1007/s40200-024-01428-0.
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BACKGROUND: Congenital talipes equinovarus (CTEV) is a prevalent pediatric deformity with a multifactorial etiology. The objective of this meta-analysis was to explore the association between genetic variations in COL9A1 and the susceptibility to CTEV. METHODS: A comprehensive analysis of pertinent literature released before November 15, 2023, in electronic bibliographic databases was carried out. The importance of the connection was clarified through odds ratios (ORs) with 95% confidence intervals (CIs), utilizing random or fixed-effects models depending on study heterogeneity. Statistical analysis was executed using Comprehensive Meta-Analysis software (Version 4.0). RESULTS: A total of eight case-control studies involving 833 CTEV patients and 1280 healthy individuals were included in the analysis. Among these, four studies investigated the rs1135056 variant, encompassing 432 CTEV cases and 603 controls; two studies examined the rs35470562 variant, with 189 CTEV cases and 378 controls; and two studies explored the rs592121 variant, including 212 CTEV cases and 299 controls. The results revealed a significant association between the rs1135056 and rs35470562 polymorphisms in the COL9A1 gene, suggesting an increased risk of CTEV in the overall population. Conversely, no such association was found for the rs592121 variant. CONCLUSION: Our findings reveal a substantial association between the genetic variants COL9A1 rs1135056 and rs35470562 and susceptibility to CTEV. Conversely, the variant rs592121 did not exhibit any corresponding link. However, the limitations imposed by the small study population have compromised the statistical reliability and generalizability of the results.
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Pé Torto Equinovaro , Colágeno Tipo IX , Predisposição Genética para Doença , Humanos , Pé Torto Equinovaro/genética , Predisposição Genética para Doença/genética , Colágeno Tipo IX/genética , Estudos de Casos e Controles , Polimorfismo de Nucleotídeo ÚnicoRESUMO
Osteoarthritis (OA) arises from a intricate interplay of genetic and environmental factors. Numerous studies have explored the link between the growth differentiation factor 5 (GDF-5) +104T>C polymorphism and OA risk, but the findings have been inconclusive. We carried out a case-control study with 704 OA cases and 418 healthy controls. Furthermore, we conducted a meta-analysis by thoroughly searching the literature for relevant studies published until 1 September, 2023. The combined odds ratio and 95% confidence intervals were used to assess the correlation's strength. A total of 47 independent case-control studies, including 17,602 OA cases and 30,947 controls, were analyzed. Of these, 31 studies (11,176 cases, 16,724 controls) focused on knee OA, 8 studies (3,973 cases, 8,055 controls) examined hip OA, and 6 studies (2244 cases, 5965 controls) investigated hand OA. Overall, our findings suggest that the GDF-5 + 104T>C polymorphism has a protectibe role in development of OA in global scale. Subgroup analyses by ethnicity indicated that this genetic variation provides protection against OA in Caucasian, Asian, and African populations. Further subgroup analysis based on the type of OA showed a decreased risk of knee and hand OA associated with this variation, but not for hip OA. Our combined data indicates that the GDF-5 + 104T>C polymorphism offers protection against the development of OA in general, as well as knee and hand OA. Nevertheless, there was no correlation found between this polymorphism and the development of hip OA.
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BACKGROUND: The study aimed to investigate the association of IL-6 and IL-10 polymorphisms with susceptibility to glaucoma by analyzing all relevant individual studies. MATERIALS AND METHODS: Relevant articles were gathered from PubMed, Web of Science, Embase, WanFang, and CNKI databases up to 15 October 2023. Odds ratios (ORs) were used to evaluate the association strengths, along with 95% confidence intervals (CIs). RESULTS: Seven case-control studies involving 1408 cases and 1789 controls on the IL-6 -174 G>C polymorphism, and three studies with 675 cases and 1100 controls on the IL-6 -572 G>C were included. Moreover, three separate studies, each comprising 442 cases and 672 controls, investigated the IL-10 -592C>A, -819T>C, and -1082A>G polymorphisms. The combined data indicated a significant association between -592C>A, -819T>C, and -1082A>G at IL-10 gene and IL-6 -572 G>C with glaucoma susceptibility, with no correlation found for IL-6 -174 G>C. CONCLUSIONS: The study found that IL-10 -592C>A, -819T>C, -1082A>G, and IL-6 -572 G>C polymorphisms were linked to glaucoma risk. However, no significant association was observed for IL-6 -174 G>C. These findings imply a possible connection between genetic variations in these genes and glaucoma risk. Further research is crucial to fully understand the underlying mechanisms and their significance in managing and preventing glaucoma.
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BACKGROUND: Cervical cancer, globally, ranks as the runner-up among the most prevalent forms of cancer affecting women. The role of the tumor necrosis factor alpha (TNF-α) polymorphism in the susceptibility to cervical cancer has been a subject of interest. However, the current evidence regarding this association remains inconclusive. METHODS: To address this uncertainty, eligible studies were systematically searched and retrieved from various databases including Cochrane Library, EMBASE, PubMed, Web of Science, CNKI, and Wanfang database. The search was conducted until September 01, 2023. The collected literature was then subjected to independent analysis by two authors. The pooled odds ratio along with the corresponding 95% confidence interval was calculated using different genetic models. Additionally, sensitivity and cumulative analyses were performed to assess the stability of the obtained results. RESULTS: A total of 29 case-control studies involving 8850 cases and 9286 controls were included in the present analysis. The findings revealed that the TNF-α rs1800629 polymorphism increased the risk of cervical cancer under the allele genetic model (A vs. G: OR = 1.277, 95% CI = 1.104-1.477, P = 0.001) in the general population. Subgroup analysis based on ethnicity demonstrated that this polymorphism was associated with an increased risk of cervical cancer in Caucasian and African women, but not in Asians. Furthermore, subgroup analysis based on country of origin indicated a significant correlation between the TNF-α rs1800629 polymorphism and an increased risk of cervical cancer in American and Chinese women, but not in Iranian women. CONCLUSIONS: The findings from this meta-analysis suggest that the TNF-α rs1800629 polymorphism is a risk factor for cervical cancer in the general population, particularly in Caucasian and African women. However, further well-designed studies are warranted to validate these findings.
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Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Fator de Necrose Tumoral alfa , Neoplasias do Colo do Útero , Humanos , Neoplasias do Colo do Útero/genética , Feminino , Fator de Necrose Tumoral alfa/genética , Estudos de Casos e Controles , Fatores de Risco , PrognósticoRESUMO
BACKGROUND: Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a prevalent craniofacial birth defect on a global scale. A number of candidate genes have been identified as having an impact on NSCL/P. However, the association between interferon regulatory factor 6 (IRF6) polymorphisms and NSCL/P has yielded inconsistent results, prompting the need for a meta-analysis to obtain more accurate estimates. METHODS: We conducted a thorough screening of all relevant articles published up until November 15, 2023, in online bibliographic databases. The statistical analysis of the collected data was performed using the Comprehensive Meta-Analysis (Version 4.0) software. RESULTS: A total of 79 case-control studies, comprising 14,003 cases and 19,905 controls, were included in our analysis. The combined data indicated that the IRF6 rs642961 and rs2235371 polymorphisms were associated with an increased risk of NSCL/P in the overall population. However, no significant association was found between the rs2013162 and rs2235375 polymorphisms and the risk of NSCL/P in the overall population. Furthermore, subgroup analyses revealed significant correlations between the IRF6 rs642961, rs2235371, and rs2235375 polymorphisms and the risk of NSCL/P based on ethnic background and country of origin. Nevertheless, the rs2013162 polymorphism plays a protective role in Caucasians and mixed populations. CONCLUSIONS: Our collective data indicates a significant association between the rs642961 and rs2235371 polymorphisms and the risk of NSCL/P in the overall population. The rs2235375 polymorphism could influence the susceptibility to NSCL/P based on ethnic background. Meanwhile, the rs2013162 polymorphism provides protective effects in Caucasian, mixed populations, and the Brazilian population.
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Studies on the CXCL12 rs1801157 polymorphism show that this polymorphism is involved in development of breast cancer, but its specific relationships or effects are not consistent. The purpose of this meta-analysis was to investigate the association between CXCL12 rs1801157 polymorphism and susceptibility to breast cancer. PubMed, Scopus, Embase, the Cochrane Library, Web of Science, and CNKI were searched for eligible studies through February 01, 2023. A total of ten studies with 2093 cases and 2302 controls were included in this meta-analysis. Overall, there is a significant association between CXCL12 rs1801157 polymorphism and risk of breast cancer under the homozygote genetic model (AA vs. GG, OR= 1.350, 95% CI: 1.050-1.734, p= 0.019). Stratified by ethnicity showed a significant association in Caucasian women, but not among Asian and mixed populations. This meta-analysis confirms that CXCL12 rs1801157 polymorphism is related to breast cancer risk, especially among Caucasian women. However, well-designed large-scale studies are required to further evaluate the results.
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Neoplasias da Mama , Quimiocina CXCL12 , Feminino , Humanos , Asiático , Neoplasias da Mama/genética , Estudos de Casos e Controles , Quimiocina CXCL12/genética , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Fatores de Risco , População BrancaRESUMO
BACKGROUND: Growing studies revealed the association between polymorphisms in Tumor Protein TP73 (TP73) and susceptibility to cancer, especially with gynecological cancers. but, the results remained inconsistent. This meta-analysis was carried out to examine the relationship of the TP73 G4C14-to-A4T14 polymorphism (hereafter, G4C14-to-A4T14) with susceptibility to cervical cancer globally and by ethnicity. METHODS: Eligible studies were collected by retrieving PubMed, Scopus, Web of Science, Embase, Wan Fang, and CNKI published before 25 October, 2023. The pooled odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of such association. RESULTS: A total of 10 case-control studies with 1804 cervical cancer cases and 2433 healthy controls were included to this study. The pooled results showed that TP73 G4C14-to-A4T14 polymorphism was not associated with cervical cancer risk in overall. in terms of stratified analyses by ethnicity, this polymorphism was not associated with risk of cervical cancer among East-Asian women. however, there was a significant association based source of control among hospital-based studies. CONCLUSIONS: Inconsistent with previous meta-analyses, our pooled results revealed that TP73 G4C14-to-A4T14 polymorphism might not be a risk factor for development of cervical cancer globally and among East-Asian women. Moreover, further studies examining the effect of gene-gene and gene-environment interactions may eventually provide a better knowledge.
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Neoplasias do Colo do Útero , Feminino , Humanos , Neoplasias do Colo do Útero/epidemiologia , Neoplasias do Colo do Útero/genética , Proteína Tumoral p73/genética , Proteínas Supressoras de Tumor/genética , Proteínas de Ligação a DNA/genética , Proteínas Nucleares/genética , Predisposição Genética para Doença , Fatores de Risco , Estudos de Casos e Controles , Polimorfismo de Nucleotídeo ÚnicoRESUMO
Breast cancer is one of the most common cancers in the world and leading cause of cancer-related death among women. Several studies indicated that Arg188His (rs3218536) polymorphism of X-ray repair cross-complementing 2 (XRCC2) may be associated with breast cancer risk. However, this association remains ambiguous. Thus, we performed a meta-analysis to provide more precise conclusion on this issue. A comprehensive search in PubMed, Google Scholar and ISI Web of Science was performed to select all relevant studies. Odds ratios (OR) with corresponding 95% confidence intervals (CI) were applied to assess the strength of the relationships. A total of 17 studies with 5694 breast cancer cases and 6450 healthy subjects were identified. The pooled data revealed that XRCC2 Arg188His polymorphism was marginally with susceptibility to breast cancer globally under the heterozygote contrast (OR = 0.929, 95% CI = 0.873-0.987, p=0.018). Moreover, subgroup analysis by ethnicity revealed that this polymorphism was associated with breast cancer risk among Caucasians. On the whole, the present study demonstrates that the XRCC2 Arg188His polymorphism may contribute to an increased risk of breast cancer.
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Neoplasias da Mama , Proteínas de Ligação a DNA , Feminino , Humanos , Neoplasias da Mama/genética , Estudos de Casos e Controles , Proteínas de Ligação a DNA/genética , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Raios XRESUMO
BACKGROUND: The tumorigenesis of lung cancer is complicated, and genetic factor may have the role in the malignant transformation of lung cells. IL-10 gene polymorphisms have been evaluated for their potential roles in lung cancer. However, those studies results are controversial. To clarify the effects of IL-10 rs1800871, rs1800872 and rs1800896 polymorphisms on the risk of lung cancer, a meta-analysis was performed with eligible individual studies. METHODS: Eligible publications were gathered by retrieving PubMed, Web of Science, Embase, Wan Fang, and CNKI up to September 01, 2023. The pooled odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of such association. RESULTS: A total of 23 studies, including 5950 patients with lung cancer and 8046 healthy controls, were identified in this meta-analysis. Overall, there was no a significant association between the rs1800871, rs1800872 and rs1800896 polymorphisms at IL-10 gene and susceptibility to lung cancer globally when all studies in the pooled into this meta-analysis. Stratified analysis by ethnicity showed that rs1800872 polymorphism was associated with lung cancer among Asians and Caucasians. However, no significant association was identified between the rs1800871 and rs1800896 and risk of lung cancer. CONCLUSIONS: Pooled data showed that IL-10 rs1800871, rs1800872 and rs1800896 polymorphisms were not associated with lung cancer globally. Future well-designed large case-control studies with different ethnicities are recommended.
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Interleucina-10 , Neoplasias Pulmonares , Humanos , Povo Asiático/genética , Estudos de Casos e Controles , Predisposição Genética para Doença , Interleucina-10/genética , Pulmão , Neoplasias Pulmonares/etnologia , Neoplasias Pulmonares/genética , Polimorfismo Genético , Polimorfismo de Nucleotídeo Único , Medição de Risco/etnologia , População Branca/genéticaRESUMO
The effects of the MTHFR rs1801133 (677C>T) and rs180113 (1298A>C) polymorphisms on bladder cancer risk have been evaluated in some studies. However, the results were conflicting and ambiguous. Therefore, we aimed to perform a comprehensive meta-analysis to investigate the association of these polymorphisms with risk of bladder cancer from all eligible case-control studies. PubMed, Web of science, Scopus, SID, CNKI and SciELO databases were searched to identify all relevant studies published up to 1 January, 2021. Odds ratios (ORs) and 95% confidence intervals (CIs) were used to estimate the strength of associations. A total of 20 case-control studies including 11 studies with 3463 cases and 3927 controls on MTHFR rs1801133 (677C>T) and 9 studies with 3177 cases and 3502 controls on rs180113 (1298A>C) polymorphism were selected. Pooled data revealed that the MTHFR rs1801133 (677C>T) and rs180113 (1298A>C) polymorphisms were not associated with risk bladder cancer in overall. Stratified analysis by ethnicity revealed that the MTHFR rs1801133 (677C>T) and rs180113 (1298A>C) polymorphisms were associated with bladder cancer risk in Asians, but not in Caucasians. There was no publication bias. The current meta-analysis revealed that the MTHFR rs1801133 (677C>T) and rs180113 (1298A>C) polymorphisms were not risk factor for development of bladder cancer globally. However, large sample size, well-designed, and population-based studies should be performed to verify the association of the MTHFR polymorphisms with bladder cancer risk.
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Metilenotetra-Hidrofolato Redutase (NADPH2) , Neoplasias da Bexiga Urinária , Povo Asiático/genética , Predisposição Genética para Doença , Humanos , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Polimorfismo de Nucleotídeo Único , Neoplasias da Bexiga Urinária/genéticaRESUMO
Introduction The coronavirus disease-2019 (COVID-19) has emerged as a novel infection which has spread rapidly across the globe and currently presents a grave threat to the health of the cancer patient. Objective The aim of this meta-analysis was to evaluate the proportion of hematological cancer patients with the SARS-CoV-2 infection during the COVID-19 pandemic. Method A comprehensive literature review was performed on PubMed, Web of Science, Scopus, EKB SciELO, SID, CNKI and Wanfang databases to retrieve all relevant publications up to January 31, 2021. Observational studies, consecutive case-series and case-control studies were included. The proportion for hematological cancer patients with COVID-19 was estimated using the odds ratios (ORs) and 95% confidence interval (95% CIs). Results Fourteen studies with a total of 3,770 infected cancer patients and 685 hematological cancer cases with COVID-19 were selected. Combined data revealed that the overall proportion of hematological cancer patients with COVID-19 was 16.5% (95% CI 0.130 - 0.208, p ≤ 0.001). The stratified analysis by ethnicity showed that the proportion was 18.8% and 12.4% in Caucasian and Asian hematological cancer patients with COVID-19, respectively. Moreover, subgroup analysis by country of origin showed that its proportion was the highest in the United Kingdom (22.5%), followed by France (17.1%) and China (8.2%). Conclusion This meta-analysis result indicated that the proportion of hematological cancer patients with SARS-CoV-2 infection during the COVID-19 pandemic was 16.5%. Further larger sample sizes and multicenter studies among different ethnic groups are necessary to get a better assessment of the proportion.
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Neoplasias Hematológicas , Pandemias , SARS-CoV-2 , COVID-19 , Revisões Sistemáticas como Assunto , InfecçõesRESUMO
Introduction: The coronavirus disease-2019 (COVID-19) has emerged as a novel infection which has spread rapidly across the globe and currently presents a grave threat to the health of the cancer patient. Objective: The aim of this meta-analysis was to evaluate the proportion of hematological cancer patients with the SARS-CoV-2 infection during the COVID-19 pandemic. Method: A comprehensive literature review was performed on PubMed, Web of Science, Scopus, EKB SciELO, SID, CNKI and Wanfang databases to retrieve all relevant publications up to January 31, 2021. Observational studies, consecutive case-series and case-control studies were included. The proportion for hematological cancer patients with COVID-19 was estimated using the odds ratios (ORs) and 95% confidence interval (95% CIs). Results: Fourteen studies with a total of 3,770 infected cancer patients and 685 hematological cancer cases with COVID-19 were selected. Combined data revealed that the overall proportion of hematological cancer patients with COVID-19 was 16.5% (95% CI 0.130 - 0.208, p ≤ 0.001). The stratified analysis by ethnicity showed that the proportion was 18.8% and 12.4% in Caucasian and Asian hematological cancer patients with COVID-19, respectively. Moreover, subgroup analysis by country of origin showed that its proportion was the highest in the United Kingdom (22.5%), followed by France (17.1%) and China (8.2%). Conclusion: This meta-analysis result indicated that the proportion of hematological cancer patients with SARS-CoV-2 infection during the COVID-19 pandemic was 16.5%. Further larger sample sizes and multicenter studies among different ethnic groups are necessary to get a better assessment of the proportion.
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BACKGROUND: The association of the fetal MTHFR A1298C (rs1801131) polymorphism and neural tube defects (NTDs) susceptibility has been widely demonstrated, but the results remain inconclusive. Thus, we performed a meta-analysis to investigate the association between fetal MTHFR A1298C polymorphism and NTDs risk. METHODS: An electronic search of PubMed, web of science, SciELO, CNKI database for studies on the fetal MTHFR A1298C polymorphism and NTDs risk was performed up to March 30, 2020. RESULTS: A total of 22 case-control studies with 3,224 fetuses with NTDs and 3,295 controls were selected. Overall, pooled data showed that the fetal MTHFR A1298C polymorphism was not significantly associated with risk an increased risk of NTDs in the global population. When stratified analysis by ethnicity, country of origin and NTDs type, still no statistically significant association was found. CONCLUSIONS: Our pooled data emerged no evidence for significant association between fetal MTHFR A1298C polymorphism and NTDs risk.
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Metilenotetra-Hidrofolato Redutase (NADPH2) , Defeitos do Tubo Neural , Estudos de Casos e Controles , Feminino , Feto , Predisposição Genética para Doença , Genótipo , Humanos , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Defeitos do Tubo Neural/genética , Polimorfismo Genético , Polimorfismo de Nucleotídeo Único , Gravidez , Cuidado Pré-NatalRESUMO
BackgroundSeveral studies have investigated the role of PAI-1 4G/5G and ACE I/D polymorphisms in the etiology of pediatric sepsis, but the results are inconsistent. We performed a meta-analysis to assess for any associations. Methods: A comprehensive literature search on PubMed, web of science, and CNKI database was conducted up to April 15, 2020. Results: There were twelve case-control studies involving seven studies with 860 cases and 1144 controls on PA-1 4G/5G and five studies with 1602 cases and 1585 controls on ACE I/D. PAI-1 4G/5G and ACE I/D polymorphisms were associated with an increased risk of pediatric sepsis in the global population. Stratified analysis by ethnicity showed a significant association in the Caucasians children. Conclusions: The meta-analysis suggests that the PAI-1 4G/5G and ACE I/D polymorphisms may be risk factors for development of pediatric sepsis in the global population.
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Inibidor 1 de Ativador de Plasminogênio , Sepse , Estudos de Casos e Controles , Criança , Predisposição Genética para Doença , Genótipo , Humanos , Inibidor 1 de Ativador de Plasminogênio/genética , Polimorfismo Genético , Fatores de Risco , Sepse/genéticaRESUMO
Background MTHFR gene may be a key epigenetic regulation-related factor crucial during embryogenesis. We performed a meta-analysis to determine the association of fetal MTHFR C677T polymorphism with neural tube defects (NTDs).Methods A comprehensive literature search of the PubMed, Embase, and CNKI database was performed up to April 10, 2020.Results A total of 19 case-control studies with 2,228 NTDs cases and 4,220 controls were identified. Pooled data revealed that the fetal MTHFR C677T polymorphism was significantly highly correlated with development of NTDs in the overall population. Stratified analysis showed a significant association among Caucasians and Asians, but not in mixed populations. There was a significant association between the MTHFR C677T polymorphism and spina bifida risk. No publication bias was found under any genetic model.Conclusions Our pooled data support the fetal MTHFR C677T polymorphism association with risk of NTDs, especially among Caucasians and Asians.
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Epigênese Genética , Defeitos do Tubo Neural , Estudos de Casos e Controles , Feminino , Predisposição Genética para Doença , Humanos , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Defeitos do Tubo Neural/genética , Polimorfismo de Nucleotídeo ÚnicoRESUMO
BACKGROUND: The purpose of this study was to explore the association of IL-10 polymorphisms with susceptibility to colorectal cancer (CRC) and gastric cancer (GC). METHODS: PubMed, Scopus, Embase, SciELO, medRxiv, China Biology Medicine Disc, DeepDyve, CNKI, and Web of Science were used to identify all relevant articles published up to 20th June 2021, without any restrictions on ethnicity. Summary odds ratios (ORs) with 95% confidence intervals (CIs) were used to determine the strength of the associations. RESULTS: A total of 106 case-control studies were included. For CRC, 15 studies with 2772 cases and 3719 controls on -1082A/G, 11 studies with 3259 cases and 4992 controls on -592C/A, and 3 studies with 477 cases and 544 controls on -819 T/C were selected. For GC, 31 studies with 6229 cases and 8666 controls on -1082A/G, 27 studies with 5457 cases and 8381 controls on -592C/A, and 19 studies with 3556 cases and 6218 controls on -819 T/C were included. Pooled data showed a significant association between IL-10-819 T/C polymorphism and CRC susceptibility in overall population, but not for IL-10-1082A/G and -592C/A polymorphisms. However, IL-10-592C/A polymorphism was associated with CRC risk in Asians. A significant association of IL-10-1082A/G polymorphism with the GC risk was found. In the ethnicity subgroup analysis, a significant association was found between IL-10-1082A/G polymorphism and GC risk among Asians. The IL-10-819 T/C was not associated with GC risk in overall population and by ethnicity. CONCLUSIONS: Our pooled data show a significant association of IL-10-819 T/C and IL-10-1082A/G polymorphisms with CRC and GC in overall population, respectively. However, other factors may influence these associations, and large-scale studies with adequate methodological quality are necessary to confirm the impact on CRC and GC risk.
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Neoplasias Colorretais , Interleucina-10 , Neoplasias Gástricas , Humanos , Estudos de Casos e Controles , Neoplasias Colorretais/genética , Predisposição Genética para Doença , Interleucina-10/genética , Polimorfismo de Nucleotídeo Único , Fatores de Risco , Neoplasias Gástricas/genéticaRESUMO
BACKGROUND: Genetic polymorphisms play an important role in the development of colorectal cancer (CRC). Functional variants in the epidermal growth factor (EGF), survivin, and Ephrin A1 (EFNA1) genes have been previously reported to play a potential role in susceptibility to CRC, but these polymorphisms have not been well replicated. The aim of this study was to assess the association of the EGF 61A>G, Survivin -31G>C, and EFNA1 -1732G>A polymorphisms with the susceptibility to CRC in an Iranian population. METHODS: A total of 148 cases diagnosed with CRC and 160 healthy subjects were recruited. The EGF 61A>G, survivin -31G>C, and EFNA1 -1732G>A polymorphisms were genotyped using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. RESULTS: Our data revealed that the homozygous mutant genotype (CC: OR = 2.895, 95% CI = 1.092-7.673, p = 0.033) and mutant allele (C: OR = 1.629, 95% CI = 1.152-2.303, p = 0.006) of the survivin -31G>C were associated with an increased risk of CRC in the Iranian population. However, our results failed to show an association between the EGF 61A>G and EFNA1 -1732G>A polymorphisms and CRC risk. CONCLUSION: Our results revealed that the survivin -31G>C polymorphism might play an important role in development of CRC in Iranian population. However, no association of EGF 61A>G and EFNA1 -1732G>A polymorphisms with CRC risk was found.