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1.
Gene ; 725: 144163, 2020 Jan 30.
Artigo em Inglês | MEDLINE | ID: mdl-31639433

RESUMO

BACKGROUND: Previous studies have established that coronary artery disease is associated with excess inflammation. These studies have shown an elevation of both pro and anti-inflammatory cytokines in sufferers of coronary artery disease. There is increasing interest in the role played by the inflammasome Nod Like Receptor family pyrin domain containing 3 (NLRP3) in the aetiology of coronary artery disease. Increased severity of coronary artery disease correlates with higher levels of expression of NLRP3. Does NLRP3 polymorphisms play a role in the aetiology of coronary artery disease? METHOD: In a cohort of Vietnam War (n-299) veterans who have been previously exposed to trauma, NLRP3 polymorphisms were analysed for association with coronary calcium scores using analyses of variance. Independent t-test was used to analyse genotypes. In samples with a small representation of minor homozygotes, genotypes were combined and analysed using independent t-test. If any of the genotype analysis suggested the potential for a dominant or a recessive model the model was further explored. Hardy-Weinberg Equilibrium was calculated using Hardy-Weinberg equilibrium calculator including analysis for ascertainment bias. RESULTS: The NLRP3 polymorphism, rs10159239 was significantly associated (p = 0.001) with a higher raised coronary calcium score. The Single Nucleotide Polymorphism rs10159239 was examined by logistic regression with known risk factors for Coronary artery disease and remained significant (0.035). This is the first time rs10159239 A-allele has been associated with raised coronary calcium score. CONCLUSIONS: This is the first time rs10159239 A-allele has been associated with raised coronary calcium score. Further research is needed to replicate our results in larger well-characterised cohorts.


Assuntos
Doença da Artéria Coronariana/genética , Proteína 3 que Contém Domínio de Pirina da Família NLR/genética , Proteína 3 que Contém Domínio de Pirina da Família NLR/metabolismo , Idoso , Idoso de 80 Anos ou mais , Alelos , Proteínas de Transporte/genética , Estudos de Coortes , Doença da Artéria Coronariana/metabolismo , Citocinas/genética , Grupo com Ancestrais do Continente Europeu/genética , Feminino , Frequência do Gene/genética , Predisposição Genética para Doença/genética , Genótipo , Humanos , Inflamação/genética , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único/genética , Fatores de Risco , Veteranos , Guerra do Vietnã
2.
Medicine (Baltimore) ; 98(52): e18523, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31876746

RESUMO

Prostate cancer (PCa) is a frequently diagnosed malignant solid tumor in men. The etiology of PCa has been attributed to both environmental and genetic factors. In recent years, many studies have reported that miRNA gene single-nucleotide polymorphisms (SNPs) influence the susceptibility to several diseases such as cancer. To date, the mechanisms of PCa have remained unknown. The main aim of this study was to evaluate the association between PCa susceptibility and miRNA gene SNPs. A total of 156 PCa cases and 188 control subjects were included in this case-control study. The data were collected from hospitalized cases. We collected the demographic characteristic information, which included age, body mass index, tobacco smoking, alcohol consumption, and family history of cancer. Polymorphisms were analyzed by the ligase detection reaction. Unconditional logistic and stratified analyses were used to analyze the association between these SNPs and PCa susceptibility and to calculate the adjusted odds ratios (ORs) and the 95% confidence intervals (CIs). Cox regression model and the log-rank test were used to test the association between genetic variants and the overall survival. We found that miR-23a gene polymorphism rs3745453 carrying CC homozygotes had a 4.16-fold increased risk (95% CI = 1.30-13.25) than those carrying the TT/CT genotypes (P = .02), and the C allele displayed a higher prevalence of PCa than the T allele (OR = 1.68, 95% CI = 1.16-2.45, P = .01). Moreover, miR-23a showed that the homozygous carriers of the C-variant significantly increased the risk of survival rate as compared to the carriers of the TT/CT genotype (OR = 9.67, 95% CI = 2.83-33.09, P = .001). The rs3745453 polymorphism was potentially associated with PCa in the Chinese Han population and had an interactive relationship with the environmental factors.


Assuntos
Predisposição Genética para Doença/genética , MicroRNAs/genética , Polimorfismo de Nucleotídeo Único/genética , Neoplasias da Próstata/genética , Idoso , Grupo com Ancestrais do Continente Asiático/genética , Estudos de Casos e Controles , China/epidemiologia , Homozigoto , Humanos , Masculino , Neoplasias da Próstata/epidemiologia , Fatores de Risco
3.
Medicine (Baltimore) ; 98(52): e18606, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31876763

RESUMO

The aim of the present study was to examine the association between vascular endothelial growth factor receptor 2 (VEGFR2) rs11941492 C/T polymorphism and rheumatoid arthritis (RA) risk in an eastern Chinese Han population. We examined VEGFR2 rs11941492 C/T polymorphism in 615 RA patients and 839 controls in an East Chinese Han population. The power analysis was used for evaluating the reliability of the results. Genotyping was performed using a custom-by-design 48-Plex single nucleotide polymorphism scan Kit. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using logistic regression.Our results indicated that VEGFR2 rs11941492 C/T polymorphism (TT vs CC, P = .012, OR = 0.61, 95% CI = 0.41-0.89; TT vs CT + CC, P = .017, OR = 0.63, 95% CI = 0.43-0.92) was associated with a significantly decreased risk of RA. The power analysis showed that this study had a power of 98.5% to detect the effect of rs11941492 C/T polymorphism on RA susceptibility, assuming an OR of 0.61. After stratification analysis, a decreased risk of RA was associated with VEGFR2 rs11941492 TT genotype (TT vs CC) among female patients (TT vs CC, P = .007, OR = 0.53, 95% CI = 0.33-0.84), older patients (Yr ≥55) (TT vs CC, P = .039, OR = 0.58, 95% CI = 0.35-0.97), C-reactive protein-positive patients, anti-cyclic citrullinated peptide antibody-negative patients, rheumatoid factor-positive patients (TT vs CT + CC, P = .015, OR = 0.60, 95% CI = 0.39-0.90), functional class III + IV patients, patients with a DAS28 of ≥3.20, and those with an erythrocyte sedimentation rate of <25. However, our results were obtained from only a moderate-sized sample. Studies with larger sample sizes in other ethnic populations are needed to confirm these results. The VEGFR2 rs11941492 genotype is associated with decreased susceptibility to RA.


Assuntos
Artrite Reumatoide/genética , Polimorfismo de Nucleotídeo Único/genética , Receptor 2 de Fatores de Crescimento do Endotélio Vascular/genética , Grupo com Ancestrais do Continente Asiático/genética , Estudos de Casos e Controles , China , Feminino , Predisposição Genética para Doença/genética , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Razão de Chances
4.
Medicine (Baltimore) ; 98(51): e18273, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31860974

RESUMO

BACKGROUND: Methionine synthase reductase gene (MTRR A66G) polymorphism and methionine synthase gene (MTR A2756G) polymorphism have shown an association with idiopathic male infertility risk in several ethnic populations. However, their small sample sizes and inconsistent outcomes have prevented strong conclusions. We performed a meta-analysis with published studies to evaluate the associations of the 2 single nucleotide polymorphisms (SNPs) and idiopathic male infertility risk. METHODS: A thorough literature search was performed up to Jun 21, 2019 with Medline, Embase, Web of Science, China National Knowledge Infrastructure (CNKI), China Biology Medical literature (CBM), China Science and Technology Journal Database (VIP), and Chinese literature (Wan Fang) databases. Odds ratio (OR) and 95% confidence interval (95% CI) were used to assess the strength of associations. RESULTS: Seventeen studies including 3269 cases and 3192 controls met the inclusion criteria. Our meta-analysis showed that the MTR A2756G mutation may contribute to genetic susceptibility to the risk of idiopathic male infertility in Non-Asians, but not to Asian population, whereas the MTRR A66G polymorphism may be unrelated to idiopathic male infertility in both Non-Asian and Asian populations. In the stratified analysis by infertility type, the MTR A2756G polymorphism was a risk factor for both non-obstructive azoospermia (NOA) and oligoasthenoteratozoospermia (OAT) patients. However, the MTRR A66G polymorphism is associated with risk for OAT in Asian, but not in Non-Asian population. CONCLUSION: This meta-analysis suggested that the MTR A2756G and MTRR A66G polymorphisms were risk factors for idiopathic male infertility. Studies with larger sample sizes and representative population-based cases and well-matched controls are needed to validate our results.


Assuntos
5-Metiltetra-Hidrofolato-Homocisteína S-Metiltransferase/genética , Ferredoxina-NADP Redutase/genética , Infertilidade Masculina/genética , Polimorfismo de Nucleotídeo Único/genética , Predisposição Genética para Doença/genética , Humanos , Masculino , Fatores de Risco
5.
Medicine (Baltimore) ; 98(52): e18493, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31876736

RESUMO

Bronchopulmonary dysplasia (BPD) is a common disease of premature infants with very low birth weight. The mechanism is inconclusive. The aim of this study is to systematically explore BPD-related genes and characterize their functions.Natural language processing analysis was used to identify BPD-related genes. Gene data were extracted from PubMed database. Gene ontology, pathway, and network analysis were carried out, and the result was integrated with corresponding database.In this study, 216 genes were identified as BPD-related genes with P < .05, and 30 pathways were identified as significant. A network of BPD-related genes was also constructed with 17 hub genes identified. In particular, phosphatidyl inositol-3-enzyme-serine/threonine kinase signaling pathway involved the largest number of genes. Insulin was found to be a promising candidate gene related with BPD, suggesting that it may serve as an effective therapeutic target.Our data may help to better understand the molecular mechanisms underlying BPD. However, the mechanisms of BPD are elusive, and further studies are needed.


Assuntos
Displasia Broncopulmonar/genética , Mineração de Dados , Algoritmos , Displasia Broncopulmonar/etiologia , Displasia Broncopulmonar/metabolismo , Biologia Computacional/métodos , Mineração de Dados/métodos , Ontologia Genética , Genes/genética , Genes/fisiologia , Predisposição Genética para Doença/genética , Humanos , Recém-Nascido , Redes e Vias Metabólicas/genética , Processamento de Linguagem Natural , Transdução de Sinais/genética
6.
Medicine (Baltimore) ; 98(44): e17710, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31689804

RESUMO

Tropomyosin 1 (TPM1) is a protein that constitutes the sarcomere filaments and is encoded by the TPM1 gene. The aim of the present study is to investigate the correlation between the 3' untranslated region (3'UTR) single nucleotide polymorphisms (SNPs) of the TPM1 gene and dilated cardiomyopathy (DCM).A total of 245 patients with DCM and 245 healthy controls were recruited with 5 ml of venous blood. Genomic DNA was extracted to analyze the TPM1 gene rs12148828, rs11558748, rs707602, rs6738, rs7178040 loci genotypes, and the plasma miR-21 level was analyzed by reverse transcription-PCR (RT-PCR).The risk of DCM development in the rs6738 locus G allele carriers were 1.69 times more than A allele carriers (95% CI: 1.22-2.33, P = .001). Age and gender had no effect on the association of TPM1 gene SNPs with DCM risk (P > .05). The plasma miR-21 level of TPM1 gene rs6738 locus AA carriers was significantly higher than that of the AG and GG genotypes (P < .001).The SNPs of TPM1 gene rs6738 locus is associated with the risk of DCM, which may be related to the abnormal increase of miR-21 level in DCM patients, but further research is needed to prove the causal relationship between miR-21 level and DCM risk.


Assuntos
Regiões 3' não Traduzidas/genética , Cardiomiopatia Dilatada/genética , Predisposição Genética para Doença/genética , Polimorfismo de Nucleotídeo Único/genética , Tropomiosina/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Alelos , Cardiomiopatia Dilatada/sangue , Estudos de Casos e Controles , Feminino , Genótipo , Humanos , Masculino , MicroRNAs/sangue , Pessoa de Meia-Idade , Fatores de Risco
7.
Medicine (Baltimore) ; 98(44): e17722, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31689810

RESUMO

BACKGROUND: Ulcerative colitis (UC) and Crohn disease (CD) are the 2 main types of inflammatory bowel diseases (IBDs). Several studies have been conducted to investigate the association of Glutathione S-Transferase M1 (GSTM1) null genotype with UC and CD, but the results are inconsistent. Here, we performed a meta-analysis to clarify this controversy based on relative large sample size. METHODS: A systematic article searching was conducted in the PubMed, EMBASE, SCOPUS, WOS, ProQuest, Chinese National Knowledge Infrastructure (CNKI), and Chinese Wanfang databases up to August 31, 2019. Meta-analysis results were synthesized by using crude odds ratio (OR) with its 95% confidence interval (CI). Heterogeneity, sensitivity analysis, subgroup analysis, and publication bias were assessed by using STATA 11.0 software. RESULTS: A total of 15 relevant studies including 4353 IBDs patients (1848 CD cases, 2505 UC cases) and 5413 controls were included in this meta-analysis. Totally, we found a significant association between GSTM1 null genotype and risk to IBDs in the overall populations (OR = 1.37, 95%CI = 1.13-1.65, P = .001). Stratified by ethnicity, we found a significant association between GSTM1 null genotype and risk to IBDs in the Asian population (OR = 2.54, 95%CI = 2.15-3.00, P = .001), but not in the Caucasian population. Stratified by disease type, we found a significant association between GSTM1 null genotype with CD in the Asian population (OR = 2.37, 95%CI = 1.11-5.06, P = .026), and with UC in the Asian (OR = 2.48, 95%CI = 1.93-3.20, P = .001) population. In addition, funnel plot and Egger linear regression test suggests no publication bias in all genetic models. CONCLUSION: GSTM1 null genotype is associated with susceptibility to IBD, UC, and CD in the Asian population. Further well-designed studies are still needed to confirm these findings.


Assuntos
Colite Ulcerativa/genética , Doença de Crohn/genética , Predisposição Genética para Doença/genética , Glutationa Transferase/genética , Grupo com Ancestrais do Continente Asiático/genética , Grupo com Ancestrais do Continente Europeu/genética , Feminino , Genótipo , Humanos , Masculino , Razão de Chances
8.
Medicine (Baltimore) ; 98(46): e17403, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31725603

RESUMO

Studies investigating the association between gene variants and depression susceptibility found inconsistent data. The present study aimed to clarify whether CNR1rs1049353, CNR1 AAT triplet repeat, and CNR2rs2501432 polymorphisms confer higher risk for depressive disorder.Literature from PubMed, Medline, Embase, Scopus, Cochrance Library, and Wanfang databases was searched (up to August 20, 2018). Seven case-control studies with various comorbidities were eligible. We targeted CNR single-nucleotide polymorphisms (SNPs) that have been reported by 2 or more studies to be involved in the current meta-analysis, resulting in a final list of 3 SNPs: CNR1rs1049353, CNR1 AAT triplet repeat polymorphism, and CNR2rs2501432. Odds ratios (ORs) and 95% confidence intervals (CIs) for allele and homozygote comparisons, dominant and recessive models, and triplet repeat polymorphism ((AAT)n≥5, ≥5 vs (AAT)n<5, <5 or <5, ≥5) were assessed using a random effect model as measures of association. Heterogeneity among included studies was analyzed using sensitivity test. Publication bias was also explored by Egger and rank correlation test.overall, no significant association was found between depression and CNR1rs1049353 (G vs A: OR [95% CI] = 1.09 [0.61-1.95]; GG vs AA: 1.29 [0.73-2.26]; GG vs GA+AA: 1.10 [0.57-2.10]; GG+GA vs AA: 1.25 [0.72-2.18]; and AAT triplet repeat polymorphism ((AAT)n≥5, ≥5 vs (AAT)n<5, <5 or <5, ≥5): 1.92 [0.59-6.27]. In contrast, a significant association between CNR2rs2501432 and depression was detected, and the ORs and 95% CIs are as follows: allele contrast (OR = 1.39, 95% CI = [1.12-1.72], P = .003); homozygous (OR = 2.19, 95% CI = [1.34-3.59], P = .002); dominant (OR = 1.93,95% CI = [1.23-3.04], P = .005); and recessive (OR = 1.41, 95% CI = [1.04-1.92], P = .03).This meta-analysis revealed that CNR1rs1049353 or AAT triplet repeat polymorphism had no association with susceptibility to depression, while CNR2rs2501432 polymorphism was a remarkable mark for depression patients.


Assuntos
Depressão/genética , Predisposição Genética para Doença/genética , Polimorfismo de Nucleotídeo Único , Receptor CB1 de Canabinoide/genética , Receptor CB2 de Canabinoide/genética , Alelos , Estudos de Casos e Controles , Humanos , Razão de Chances , Fatores de Risco
9.
Medicine (Baltimore) ; 98(41): e17487, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31593112

RESUMO

To analyze the association between glutathione S-transferases polymorphisms and the risk of cervical lesions.Case-control studies focusing on the association between glutathione S-transferase polymorphisms and the risk of cervical lesions were collected from the PubMed, Web of Science, Cochrane Library, Embase, Medline, CNKI, VIP and Wanfang databases from inception to August 2018. Pooled odds ratios and 95% confidence intervals were employed to evaluate the strength of the association. Subgroup analysis and sensitivity analysis were used to test the potential discrepancy and robustness, respectively.A total of 30 studies comprising 3961 patients and 4726 healthy controls satisfied the inclusion criteria. Of these, 6 studies contained information about GSTP1, 27 studies contained information about GSTM1, and 22 studies contained information about GSTT1. Our results supported that there was no statistical association between GSTP1 polymorphism and the risk of cervical lesions (odds ratio [OR] = 1.08, P = .40). The GSTM1 null variant showed increased susceptibility to cervical lesions (OR = 1.45, P < .001). Subgroup analysis revealed that the GSTM1 null variant caused cervical lesions among HPV infection cases (OR = 1.69, P = .02) and among the Chinese and Indian populations (OR = 2.24 and OR = 1.87, respectively, P < .001). The GSTT1 null variant increased the risk of cervical lesions in smokers (OR = 1.52, P = .03). The GSTT1 null genotype was also related to high-grade intraepithelial neoplasia (HSIL) and cervical cancer risk (OR = 1.30 and OR = 1.78, respectively, P < .05).The GSTM1 null variant caused cervical lesions, especially among HPV infection cases and among the Chinese and Indian populations. The GSTT1 null variant increased the risk of cervical lesions in smokers and was also related to HISL and cervical cancer risk.


Assuntos
Neoplasia Intraepitelial Cervical/genética , Predisposição Genética para Doença/genética , Glutationa Transferase/genética , Polimorfismo de Nucleotídeo Único/genética , Neoplasias do Colo do Útero/genética , Adulto , Grupo com Ancestrais do Continente Asiático/genética , Estudos de Casos e Controles , Neoplasia Intraepitelial Cervical/virologia , China , Grupo com Ancestrais do Continente Europeu/genética , Feminino , Genótipo , Glutationa S-Transferase pi/genética , Humanos , Índia , Pessoa de Meia-Idade , Razão de Chances , Infecções por Papillomavirus/genética , Fatores de Risco , Neoplasias do Colo do Útero/virologia
10.
Zhonghua Jie He He Hu Xi Za Zhi ; 42(10): 760-764, 2019 Oct 12.
Artigo em Chinês | MEDLINE | ID: mdl-31594110

RESUMO

Objective: To explore the difference of mRNA, protein expression levels and the indexes of peripheral blood antioxidant capacity in peripheral blood lymphocytes of different EPHX1 genotypes in chronic obstructive pulmonary disease(COPD). Methods: A case-control study was conducted to collect peripheral blood samples of 220 stable chronic COPD patients with smoking history and 230 healthy smokers (control group) from October 2016 to February 2018 in the First Affiliated Hospital of Kunming Medical University, and the genetic testing was carried out according to the operation instructions of BigDye Terminator v1.1 DNA Sequencing Kit. Based on their EPHX1 exon 3 and exon 4 polymorphism status, the EPHX1 was classified into 4 groups, i. e., normal activity, slow activity, extremely slow activity and fast activity. Then COPD patients were allocated to either a slow activity group (slow and very slow activity) or a fast activity group (normal and fast activity) according to EPHX1 genotype and gene activity. The expression of EPHX1 mRNA and protein in peripheral blood lymphocytes were detected by qRT-PCR and Western blot, and indexes of serum antioxidant capacity was detected by corresponding kits. Results: (1)The 2(-ΔΔCt) of the control group was 1.000, and the 2(-ΔΔCt) of the COPD group was 1.052±0.023. There was no significant difference in the level of EPHX1 mRNA expression between the two groups (t=1.992 P=0.865). The level of EPHX1 mRNA expression in the slow activity group was not different significantly compared to that in the fast-active group (1.053±0.023 vs 1.048±0.021, t=1.133, P=0.260). (2)The level of EPHX1 protein expression by Western blot analysis showed that the EHPX1/GAPDH gray ratio was not different significantly between the COPD group and the control group (0.613±0.089 vs 0.602±0.075, t=0.805, P=0.422). The level of EPHX1 protein expression in the slow activity group was not significantly different compared to that in the fast activity group (0.606±0.088 vs 0.622±0.092, t=-0.786 P=0.434). (3)There were significant differences in indexes of antioxidant capacity between the control group and the COPD group (P<0.05). There were significant differences in indexes of antioxidant capacity between the slow activity group and the fast activity group of COPD patients (P<0.05). Conclusions: The different antioxidant capacity of COPD patients with different EPHX1 genotypes may be related to the polymorphism of EPHX1 gene affecting the activity of microsomal epoxidase, but not to the level of EPHX1 mRNA and protein expression.


Assuntos
Antioxidantes/metabolismo , Grupo com Ancestrais do Continente Asiático/genética , Epóxido Hidrolases/genética , Doença Pulmonar Obstrutiva Crônica/genética , Fumar/efeitos adversos , Adulto , Western Blotting , Estudos de Casos e Controles , China/epidemiologia , Epóxido Hidrolases/metabolismo , Predisposição Genética para Doença/genética , Genótipo , Gliceraldeído-3-Fosfato Desidrogenase (Fosforiladora)/metabolismo , Humanos , Pessoa de Meia-Idade , Polimorfismo Genético , Doença Pulmonar Obstrutiva Crônica/diagnóstico , Reação em Cadeia da Polimerase em Tempo Real , Fumar/epidemiologia
11.
Medicine (Baltimore) ; 98(38): e17224, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31567981

RESUMO

BACKGROUND: Multiple sclerosis (MS) is a common autoimmune disease of the central nervous system (CNS), and is associated with genetic factors. FOXP3 gene polymorphism has been reported as the risk factor for MS, however, previous studies have showed conflicting results. The purpose of this study is to investigate the association between FOXP3 gene polymorphism and the susceptibility to MS. METHODS: Pubmed, Embase, library of Cochrane, and Web of Science were used to search the eligible articles from January 1980 up to October 2018. The odds ratio (ORs) and its 95% confidence intervals (CI) were used to evaluate the strength of association. Allele model, homozygote model, heterozygote model, dominant model, and recessive model were used to evaluate the association between FOXP3 gene polymorphism and MS. RESULTS: A total of 5 studies contained 1276 MS patients and 1447 controls (for rs3761548) and 600 MS patients and 640 controls (for rs2232365) were enrolled in this meta-analysis. The association showed significant differences in allele and dominant model for rs3761548 polymorphism. In addition, a clear tendency to significance was detected in homozygote and recessive model for rs3761548 (P = .052). Subgroup analysis indicated a significant risk of MS in all genotype models but heterozygotes in Asians. CONCLUSION: FOXP3 gene polymorphism rs3761548 was associated with a higher MS risk, especially in Asians. This conclusion needs to be validated in more large samples and multiracial studies. LEVEL OF EVIDENCE: Level III diagnostic study.


Assuntos
Fatores de Transcrição Forkhead/genética , Predisposição Genética para Doença/genética , Esclerose Múltipla/genética , Polimorfismo de Nucleotídeo Único/genética , Genes/genética , Humanos , Esclerose Múltipla/etiologia
12.
Medicine (Baltimore) ; 98(38): e17275, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31568008

RESUMO

Single nucleotide polymorphisms (SNPs) of the interleukin 28B (IL28B) gene has proven to be associated with the clinical outcome of patients with chronic hepatitis virus B or C (HBV or HCV) infections. However, whether IL28B SNPs have an influence on the risk of hepatocellular carcinoma (HCC) among patients with HBV or HCV infection remains controversial. Therefore, this study aims to determine the association between IL28B polymorphisms and the risk of HCC in individuals with HBV or HCV infection.PubMed, EMBASE, and Chinese National Knowledge Infrastructure (CNKI) databases were used to identify studies meeting the selection requirements using the terms "interleukin 28B", "IFN-lambda-3", "IFNL3", "single nucleotide polymorphisms", "SNPs", "hepatocellular carcinoma", "HCC", "liver cancer".A total of 24 eligible original studies (1 cohort study and 23 case-control studies) involved 20238 individuals (HCC group = 8725 vs control group = 11,513) were included. Both IL28B rs12979860 CC and rs8099917 TT genotypes were significantly associated with a decreased risk of HCC among patients with HBV or HCV infection (OR = 0.71, 95% CI = 0.57-0.88; OR = 0.82, 95% CI = 0.72-0.94, respectively). Egger test and Begg test revealed no' publication bias (P > .05). Sensitivity analyses suggested the robustness of the results in this meta-analysis.Both IL28B rs12979860 CC and rs8099917 TT genotypes are protective factors for the development of HCC among patients with HBV or HCV infection. Future prospective studies examining the impact of IL28B polymorphisms on the risk of HCC and investigating the underlying mechanism for the protective role of IL28B polymorphisms in HCC development are warranted.


Assuntos
Carcinoma Hepatocelular/genética , Predisposição Genética para Doença/genética , Hepatite B/complicações , Hepatite C/complicações , Interferons/genética , Neoplasias Hepáticas/genética , Polimorfismo de Nucleotídeo Único/genética , Carcinoma Hepatocelular/etiologia , Carcinoma Hepatocelular/virologia , Hepacivirus , Hepatite B/genética , Vírus da Hepatite B , Hepatite C/genética , Humanos , Neoplasias Hepáticas/etiologia , Neoplasias Hepáticas/virologia
13.
Anticancer Res ; 39(10): 5375-5380, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31570432

RESUMO

BACKGROUND/AIM: Matrix metalloproteinases-11 (MMP-11) overexpression has been reported in various types of cancer including lung cancer. We aimed to examine the contribution of MMP-11 genotypes to lung cancer risk. MATERIALS AND METHODS: In this case-control study, the MMP-11 rs738791, rs2267029, rs738792 and rs28382575 genotypes were determined among 358 lung cancer patients and 716 age- and gender-matched healthy control Taiwanese. RESULTS: The percentages of rs738791 CT and TT were 50.6% and 9.2% in the case group, slightly higher than 48.5% and 8.1% in the control group (p for trend=0.5638). The allelic analysis showed that the rs738791 T allele did not confer lung cancer risk compared with the C allele. Similarly, there was no association between rs2267029, rs738792 or rs28382575 and lung cancer risk. There was no joint effect of MMP-11 genotypes among ever smokers or non-smokers. CONCLUSION: The genotypes of MMP-11 play a minor role in determining lung cancer risk in Taiwan.


Assuntos
Predisposição Genética para Doença/genética , Neoplasias Pulmonares/genética , Metaloproteinase 11 da Matriz/genética , Polimorfismo Genético/genética , Regiões Promotoras Genéticas/genética , Alelos , Grupo com Ancestrais do Continente Asiático/genética , Estudos de Casos e Controles , Feminino , Frequência do Gene/genética , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Taiwan
14.
Anticancer Res ; 39(10): 5525-5530, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31570446

RESUMO

BACKGROUND/AIM: Basal cell carcinoma (BCC) has been genetically associated with an increased expression of angiotensin-converting enzyme (ACE), an important factor of the renin-angiotensin system which produces vasoconstrictor angiotensin II. Other factors of this system include angiotensinogen (AGT) and angiotensin receptors AGTR1, AGTR2. We investigated the possible association of BCC with genetic variability in the AGT, AGTR1 and AGTR2 genes. MATERIALS AND METHODS: DNA samples of 190 Greeks were studied, including 91 patients with BCC and 99 matched healthy controls. Molecular genotyping of patients and controls was performed for the polymorphisms AGT M235T, AGTR1 A1166C and AGTR2 G1675A. RESULTS: The mutant T allele that increases AGT gene expression was detected in two-fold increased frequency in BCC patients in comparison to healthy controls (p <0.001). On the contrary, no significant difference was observed in AGTR1 and AGTR2 variants between patients and controls. CONCLUSION: Increased expression of AGT may be associated with BCC.


Assuntos
Carcinoma Basocelular/genética , Predisposição Genética para Doença/genética , Polimorfismo Genético/genética , Neoplasias Cutâneas/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Alelos , Angiotensinogênio/genética , Estudos de Casos e Controles , Linhagem Celular Tumoral , Feminino , Frequência do Gene/genética , Humanos , Masculino , Pessoa de Meia-Idade , Receptor Tipo 1 de Angiotensina/genética , Receptor Tipo 2 de Angiotensina/genética
15.
Medicine (Baltimore) ; 98(39): e17167, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31574823

RESUMO

BACKGROUND: The association between plasma interleukin-6 (IL-6) levels and the development of febrile seizures (FS) has been reported in multiple previous studies, which showed significantly higher serum IL-6 levels in FS patients than in control patients. However, the mechanism underlying this association remains unclear. One previous study indicated an increased frequency of the -174 GG and -597 GG genotypes in FS patients. Although IL-6 gene polymorphisms may be associated with FS risk, this association remains a matter of debate. OBJECTIVE: Considering the lack of meta-analyses addressing the possible association between IL-6 gene polymorphisms and the risk of FS, we aimed to perform a meta-analysis to determine the association of IL-6 gene polymorphisms (-572, -174, -597) with the risk of FS. METHODS: We conducted a systematic literature search in the PubMed, EMBASE, and WANFANG databases to collect eligible articles. The associations of IL-6 gene polymorphisms with FS risk were evaluated by calculating the pooled odds ratios and 95% confidence intervals. The dominant, recessive, heterozygous, homozygous, and allele genetic models were used to calculate the combined ORs. RESULTS: Our meta-analysis showed that IL-6 (-572, -174, -597) polymorphisms were significantly associated with susceptibility to FS. CONCLUSION: This study provided knowledge regarding the association of IL-6 (572, 174, 597) polymorphisms with susceptibility to FS. The T allele and TT genotype may be associated with an increased risk for FS.


Assuntos
Predisposição Genética para Doença/genética , Interleucina-6/genética , Polimorfismo Genético , Convulsões Febris/genética , Estudos de Casos e Controles , Feminino , Genótipo , Humanos , Masculino , Razão de Chances , Fatores de Risco
16.
Medicine (Baltimore) ; 98(42): e17504, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31626105

RESUMO

Mental disorders are important diseases with a high prevalence rate in the general population. Common mental disorders are complex diseases with high heritability, and their pathogenesis is the result of interactions between genetic and environmental factors. However, the relationship between mental disorders and genes is complex and difficult to evaluate. Additionally, some mental disorders involve numerous genes, and a single gene can also be associated with different types of mental disorders.This study used text mining (including word frequency analysis, cluster analysis, and association analysis) of the PubMed database to identify genes related to mental disorders.Word frequency analysis revealed 52 high-frequency genes important in studies of mental disorders. Cluster analysis showed that 5-HTT, SLC6A4, and MAOA are common genetic factors in most mental disorders; the intra-group genes in each cluster were highly correlated. Some mental disorders may have common genetic factors; for example, there may be common genetic factors between 'Affective Disorders' and 'Schizophrenia.' Association analysis revealed 35 frequent itemsets and 25 association rules, indicating close associations among genes. The results of association rules showed that CCK, MAOA, and 5-HTT are the most closely related.We used text mining technology to analyze genes related to mental disorders to further summarize and clarify the relationships between mental disorders and genes as well as identify potential relationships, providing a foundation for future experiments. The results of the associative analysis also provide a reference for multi-gene studies of mental disorders.


Assuntos
Mineração de Dados/métodos , Transtornos Mentais/genética , Análise por Conglomerados , Bases de Dados Factuais , Predisposição Genética para Doença/genética , Humanos , Monoaminoxidase/análise , PubMed , Proteínas da Membrana Plasmática de Transporte de Serotonina/análise
17.
Clin Exp Rheumatol ; 37 Suppl 119(4): 32-40, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31573470

RESUMO

OBJECTIVES: U1-70K, encoded by the SNRNP70 gene, is a key early immunogen in connective tissue disease. The aim of the study was the genetic analysis of the SNRNP70 gene in mixed connective tissue disease (MCTD), systemic lupus erythematosus (SLE) and systemic sclerosis (SSc) patients. METHODS: SNRNP70 genetic variants were detected using 3730 DNA Analyzer. SNRNP70 rs560811128 G/A (c.476-252 G/A), rs78616533delCT (c.475+130_475+131delCT) and rs117167710 T/C (c.393+326 T/C) variants were genotyped using the technique of sequence-specific hybridisation probe binding assays. SNRNP70 393_47 G/A mutation was detected using TaqMan SNP genotyping assay. RESULTS: We found one novel c.393+47G>A and three, c.476-252 G/A, c.475+130_475+131delCT and c.393+326 T/C, previously recorded variants. The present study revealed that T-G-CT-G haplotype demonstrated significantly higher frequencies in MCTD patients than in SLE and SSc patients. In MCTD patients c.475+130_475+131delCT distribution of genotype was gender-dependent and showed association with thrombo-/leukocytopenia. Mutation at position c.476-252G>A was predicted to possibly have an impact on splicing of the SNRNP70 transcript and it was present only in one MCTD patient. CONCLUSIONS: Our results demonstrated that the T-G-CT-G SNRNP70 haplotype is another proof that MCTD may be distinct from SLE and SSc. The novel c.476-252G>A mutation in SNRNP70 gene created a new acceptor splice site and may potentially alert of splicing of the SNRNP70 transcript.


Assuntos
Lúpus Eritematoso Sistêmico , Doença Mista do Tecido Conjuntivo , Ribonucleoproteína Nuclear Pequena U1 , Escleroderma Sistêmico , Predisposição Genética para Doença/genética , Haplótipos , Humanos , Lúpus Eritematoso Sistêmico/genética , Doença Mista do Tecido Conjuntivo/genética , Ribonucleoproteína Nuclear Pequena U1/genética , Ribonucleoproteína Nuclear Pequena U1/imunologia , Escleroderma Sistêmico/genética , Tomografia Computadorizada por Raios X
18.
Medicine (Baltimore) ; 98(43): e17258, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31651836

RESUMO

Increasing studies demonstrated that genetic susceptibility attributes to the development of gestational diabetes mellitus (GDM). The polymorphisms of the ß-3 adrenergic receptor(ß-3AR) gene have been found to be of great importance in bodyweight elevation and dyslipidaemias. We aimed to determine the influence of ß-3AR polymorphisms on the GDM risk. Thus, we performed a case-control study including 136 GDM cases and 138 controls to evaluate the relation between the rs201607471 and susceptibility to GDM. Likelihood ratios X analysis showed the distribution of the genotype frequency (rs201607471 in ß-3AR gene) was accorded with the Hardy-Weinberg genetic equilibrium. Although no significant association between rs201607471 alleles and GDM susceptibility (Chi-square test, P > .05), we observed that ß-3AR gene rs201607471 CT genotype was significantly prevalent in GDM (Chi-square test, P < .05). Moreover, we observed that ß-3AR gene rs201607471 C > T was significantly associated with an increased risk of GDM using the recessive model (CC vs CT/TT: P = .026) and the additive model (CC vs CT vs TT: P = .038). These data indicate that ß-3AR rs201607471 may be a helpful susceptibility marker for GDM in Chinese pregnant women.


Assuntos
Grupo com Ancestrais do Continente Asiático/genética , Diabetes Gestacional/genética , Predisposição Genética para Doença/genética , Polimorfismo de Nucleotídeo Único/genética , Receptores Adrenérgicos beta 3/genética , Adulto , Alelos , Estudos de Casos e Controles , Distribuição de Qui-Quadrado , China , Feminino , Frequência do Gene , Genótipo , Humanos , Gravidez , Estudos Retrospectivos , Fatores de Risco
19.
Medicine (Baltimore) ; 98(43): e17438, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31651847

RESUMO

Recent genome-wide association studies (GWAS) indicated that polymorphisms in ADAMTS7 were associated with artery disease caused by atherosclerosis. However, the correlation between the ADAMTS7 polymorphism and plaque stability remains unclear. The objective of this study was to evaluate the association between 2 ADAMTS7 variants rs3825807 and rs7173743 and ischemic stroke or atherosclerotic plaque vulnerability.This research is an observational study. Patients with ischemic stroke and normal control individuals admitted to Beijing Tiantan Hospital from May 2014 to October 2017 were enrolled. High-resolution magnetic resonance imaging was used to distinguish vulnerable and stable carotid plaques. The ADAMTS7 SNPs were genotyped using TaqMan assays on real-time PCR system. The multivariate logistic regression analyses were used to adjust for multiple risk factors between groups.Three hundred twenty-six patients with ischemic stroke (189 patients with vulnerable plaque and 81 patients with stable plaque) and 432 normal controls were included. ADAMTS7 polymorphisms of both rs7173743 and rs3825807 were associated with carotid plaque vulnerability but not the prevalence of ischemic stroke. The T/T genotype of rs7173743 [odds ratio (OR) = 1.885, 95% confidence interval (CI) = 1.067-3.328, P = .028] and A/A genotype of rs3825807 (OR = 2.146, 95% CI = 1.163-3.961, P = .013) were considered as risk genotypes for vulnerable plaque susceptibility.In conclusion, ADAMTS7 variants rs3825807 and rs7173743 are associated with the risk for carotid plaque vulnerability.


Assuntos
Estenose das Carótidas/genética , Predisposição Genética para Doença/genética , Polimorfismo de Nucleotídeo Único/genética , Acidente Vascular Cerebral/genética , Proteína ADAMTS7/sangue , Estenose das Carótidas/epidemiologia , Estudos de Casos e Controles , Feminino , Genótipo , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Prevalência , Fatores de Risco , Acidente Vascular Cerebral/epidemiologia
20.
Medicine (Baltimore) ; 98(43): e17482, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31651850

RESUMO

The aim of this study was to investigate the correlation between cluster of differentiation 86 (CD86) gene rs1129055 and rs2715267 single nucleotide polymorphisms and sepsis susceptibility.One hundred twenty-five sepsis patients and 120 healthy controls were enrolled in this case-control study. CD86 polymorphisms rs1129055 and rs2715267 were genotyped through polymerase chain reaction-restriction fragment length polymorphism approach. Chi-square test was used to analyze differences in genotype and allele frequencies of the 2 polymorphisms between case and control groups. Odds ratios (ORs) and 95% confidence intervals (CIs) were used to present the association strength of the polymorphisms with sepsis susceptibility.AA genotype and A allele frequencies of CD86 rs1129055 were significantly lower in sepsis patients than in healthy controls (P < .05), revealing their significant associations with decreased disease susceptibility (OR = 0.351, 95% CI = 0.169-0.728; OR = 0.593, 95% CI = 0.415-0.847). Nevertheless, rs2715267 had no significant association with sepsis susceptibility (P > .05).AA genotype and A allele of CD86 polymorphism rs1129055 might be correlated with decreased sepsis susceptibility in Chinese Han population, but not rs2715267. Further study should be performed to verify our findings.


Assuntos
Antígenos CD/sangue , Antígeno B7-2/sangue , Predisposição Genética para Doença/genética , Polimorfismo de Nucleotídeo Único/genética , Sepse/genética , Adulto , Idoso , Grupo com Ancestrais do Continente Asiático/genética , Estudos de Casos e Controles , Distribuição de Qui-Quadrado , Feminino , Frequência do Gene , Predisposição Genética para Doença/etnologia , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Adulto Jovem
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