Objective To evaluate the correlation of TNF-α G308A polymorphism and rheumatic heart disease (RHD) using meta-analysis. Methods Databases including PubMed, EMbase, CNKI and WanFang Data were searched to collect case-control study on the correlation of TNF-α G308A polymorphism and RHD, published from January 1990 to June 2011. Two reviewers independently screened studies according to the inclusion and exclusion criteria, extracted data and evaluated the methodological quality of the included studies. Then meta-analysis was performed using RevMan 5.1 and SPSS 16.0. Results A total of 5 studies were included, involving 539 RHD cases and 624 controls. The results of meta-analysis according to recessive genetic model of TNF-α G308A showed that there were significant differences in RHD risk between the AA genotype carriers and the GA+GG genotype carries (OR=5.06, 95%CI 2.15 to 11.89, P=0.0002), the same as the results of meta-analysis calculated according to dominant genetic model (OR=3.14, 95%CI 1.05 to 9.38, P=0.04). Conclusion Current evidence shows that TNF-α G308A polymorphism is related to RHD, and the AA genotype carriers tend to face an increasing RHD risk. This conclusion still needs to be further proved by more high-quality and large-scale clinical trials.
ObjectiveTo systematically review the relationship between T309G polymorphism of murine double minute 2 (MDM2) gene and susceptibility of prostate cancer. MethodsThe PubMed, Embase, WanFang Data, CNKI databases were electronically searched to collect case-control studies related to the objectives from inception to May, 2023. Two reviewers independently screened literature, extracted data and assessed the risk of bias of the included studies. Meta-analysis was then performed by using Stata 14.0 software. ResultsA total of 10 studies involving 5 781 patients and 5 477 healthy controls were included. The results of meta-analysis showed that the MDM2 gene T309G polymorphism was not associated with preeclampsia (allele model G vs. T: OR=0.89, 95%CI 0.77 to 1.04, P=0.13; homozygote model GG vs. TT: OR=0.86, 95%CI 0.64 to 1.16, P=0.32; heterozygote model TG vs. TT: OR=1.04, 95%CI 0.86 to 1.26, P=0.12; dominant model GG+TG vs. TT: OR=0.96, 95%CI 0.89 to 1.04, P=0.36; recessive model GG vs. TG+TT: OR=0.84, 95%CI 0.63 to 1.14, P=0.27). The results of subgroup analysis based on ethnicity and source of control were similar to the overall results. Sensitivity analysis showed that the results were robust. Conclusion Current evidence shows that the MDM2 gene T309G polymorphism is not associated with prostate cancer susceptibility. Due to the limited quality and quantity of the included studies, more high quality studies are needed to verify the above conclusion.
ObjectiveTo understand the genetic polymorphisms of MUC5B and TOLLIP in Chinese patients with idiopathic pulmonary fibrosis (IPF), and to explore whether gene polymorphism variation in Chinese IPF patients can be used as a genetic biomarker for accurate treatment and prognosis judgment.MethodsA total of one hundred and twenty-six patients with IPF were enrolled in this study. The baseline characteristics, total lung capacity (TLC), forced vital capacity (FVC), carbon monoxide diffusion function (DLCO), imaging changes of the patients were followed up. The levels of serum sputum glycosylated antigen-6 (Krebs Von den Lungen-6, KL-6) and B lymphocyte chemotactic factor C-X-C motif chemokine 13 (CXCL13) were detected by chemiluminescent enzyme immunoassay and enzyme-linked immunosorbent assay. The gene MUC5B rs35705950 and TOLLIP rs5743890, rs5743894 single nucleotide polymorphism (SNP) were determined by polymerase chain reaction.ResultsOne hundred and twenty-six patients with IPF were found with AA type by TOLLIP rs5743890 and rs5743894 SNP, accounting for 100.0%; MUC5B rs35705950 SNP was expressed as 116 patients (92.1%) with GG type, and 10 patients (7.9%) with GT type, no TT patients were detected. There was no significant difference in clinical characteristics between the two groups in age and non-smokers (P>0.05). Compared with group G, annual decrease of lung function (FVC, DLCO, and TLC), serum biomarkers (KL-6 and CXCL13), annual increase of reticular and honeycombing lesions, and mortality were significantly lower in group T (P<0.05). The median survival time of IPF patients carrying the MUC5B SNP rs35705950 minor allele (gene phenotype GT) heterozygous was significantly higher than that of homozygous IPF patients with a genetic phenotype of GG.ConclusionsThere are genetic polymorphisms in Chinese patients with IPF. MUC5B rs35705950 and TOLLIP rs5743890, rs5743894 gene subtypes have low mutation rates in the cohort. Compared with homozygous patients of MUC5B SNP rs35705950, heterozygous patients have smaller changes in lung function and radiological image, lower levels of serum KL-6 and CXCL13, and better prognosis.
ObjectiveTo systematically review the association between C677T and A1298C polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene and the risk of unexplained recurrent spontaneous abortion (URSA). MethodsWe searched PubMed, EMbase, CBM, CNKI, VIP and WanFang Data from inception to May 2015 to collect case-control studies about the association between the MTHFR gene C677T and A1298C polymorphisms and the risk of URSA. Two reviewers independently screened literature, extracted data and assessed the risk of bias of included studies. Then, meta-analysis was performed using RevMan 5.0 and Stata 12.0 software. ResultsA total of 42 case-control studies involving 3 970 URSA patients and 5 297 controls were included. The results of meta-analysis showed that MTHFR C677T polymorphism was associated with the increased risk of URSA (T vs. C: OR=1.34, 95% CI 1.16 to1.54, P < 0.000 01; TT vs. TC+CC: OR=1.70, 95% CI 1.36 to 2.12, P < 0.000 01; TT+TC vs. CC: OR=1.34, 95% CI 1.11 to 1.62, P=0.002; TC vs. CC: OR=1.19, 95% CI 0.99 to 1.43, P=0.061; TT vs. CC: OR=1.95, 95% CI 1.48 to 2.56, P < 0.000 01). Subgroup analysis by ethnicity indicated that the MTHFR C677T polymorphism was associated with the increased risk of URSA in east Asians (T vs. C: OR=1.61, 95% CI 1.39 to 1.87, P < 0.000 01; TT vs. TC+CC: OR=2.05, 95% CI 1.54 to 2.71, P < 0.000 01; TT+TC vs. CC: OR=1.76, 95% CI 1.41 to 2.19, P < 0.000 01; TC vs. CC: OR=1.53, 95% CI 1.21 to 1.94, P < 0.000 01; TT vs. CC: OR=2.77, 95% CI 1.94 to 3.97, P < 0.000 01) but was not associated with the increased risk of URSA in Caucasians. The results of meta-analysis also showed that there was no significant association between the MTHFR A1298C polymorphism and the URSA in all population. ConclusionCurrent evidence indicates that significant association is found between MTHFR C677T mutation and URSA in east Asians but not in Caucasians. Further study indicates that women carrying TT or TC gene significantly increases the risk of URSA and TT mutant gene carriers have a higher URSA risk. There is no significant association between MTHFR A1298C mutation and URSA in all population. Due to the quantity and quality limitations of included studies, more high quality case-control or cohort studies are needed to verify the above conclusions.
ObjectiveTo explore the relationship between the -2548 G/A functional polymorphism in the 5′ promoter region of the leptin gene and gallstones. Methods The -2548 G/A polymorphisms of leptin gene were determined by polymerase chain reactionrestriction fragment length polymorphism technology (PCRRFLP) in 118 patients with cholesterol gallstones and 53 normal control subjects. Then the allele and genotype distribution were studied. Results The distribution of leptin2458 G/A in two groups was statistically significantly different: the genotype frequency of AA+GA of patients in gallstone group was higher than that in control group (χ2=4.251, P=0.039). AA+AG genotype had 2.813 times greater risk for gallstone disease compared with GG genotype (OR=2.813, 95% CI=1.020-7.757). Allele frequency distribution in the two groups was different: the allele frequency of A of patients in gallstone group was higher than that in control group (χ2=5.791, P=0.016). The risk of gallstone disease in the A alleles carriers was 1.777 times as higher as the carriers of G alleles (OR=1.777, 95% CI=1.110-2.844). ConclusionThe -2548 G/A polymorphism in the 5′ promoter region of leptin gene is significantly correlated with the gallstones. The A alleles of leptin may be a genetic factor which contributes to individual susceptibility for gallstone, while the G alleles of leptin may be a genetic factor that prevents people from gallstone.
ObjectiveTo explore the associations between estrogen receptor α (ESR1) gene intron 1 PvuⅡ (−397 T/C, rs2334693), XbaⅠ (−351 A/G, rs9340799) polymorphisms and premature ovarian failure (POF).MethodsLiterature published before February 2021 were retrieved in PubMed, Web of Science, China National Knowledge Infrastructure, Wanfang, and CQVIP databases, according to the inclusion and exclusion criteria developed before. Odds ratio (OR) and 95% confidence interval (CI) were used for data analysis, the Q test and I2 statistic were used for heterogeneity analysis. Random-effect model or fixed-effect model was used according to I2 value. All analyses were performed by RevMan 5.3 software.ResultsSix case-control studies were included in this meta-analysis. For the associations between ESR1 gene intron 1 PvuⅡ polymorphisms and POF, there was no statistical difference in TT vs. CC model [OR=0.72, 95%CI (0.31, 1.70), P=0.46], TC vs. CC model [OR=1.09, 95%CI (0.83, 1.43), P=0.54], recessive model [OR=1.08, 95%CI (0.68, 1.70), P=0.74], or dominant model [OR=0.77, 95%CI (0.42, 1.42), P=0.41]. For the associations between ESR1 gene intron 1 XbaⅠ polymorphisms and POF, there was no statistical difference in AA vs. GG model [OR=0.88, 95%CI (0.44, 1.75), P=0.72], AG vs. GG model [OR=1.23, 95%CI (0.84, 1.79), P=0.29], recessive model [OR=1.14, 95%CI (0.81, 1.61), P=0.44], or dominant model [OR=0.75, 95%CI (0.41, 1.35), P=0.34], either. No statistical difference was found in the ethno-based subgroup analyses (P>0.05). Most models had obvious heterogeneities.ConclusionsCurrent evidence can’t confirm the associations between ESR1 gene PvuⅡ, XbaⅠ polymorphisms and POF. High-quality, multi-central and large-sample studies are still necessary to support this conclusion.
ObjectiveTo investigate the relationship between the aldehyde dehydrogenase 2 gene (ALDH2) polymorphism and carotid intima-media thickness (IMT). MethodsFrom April 2013 to February 2014, 310 cases of carotid IMT thickening (IMT thickening group) from the physical examination center were included in the study and 280 cases of normal carotid IMT were regarded as controls. DNA was extracted from peripheral blood. ALDH2 gene polymorphism was detected by DNA microarray method. ResultsGenotype distributions had no deviation from Hardy-Weinberg equilibrium in both groups. Compared with controls, the frequency of AA/AG genotypes (67.4%, 41.1%; P<0.01) and the frequency of A allele (37.9%, 22.3%; P<0.001) of ALDH2 gene were apparently increased in the subjects of IMT thickening group. There was a significant difference in the frequency distribution of genotype and allele in ALDH2 between the two groups. The logistic analysis showed that the ALDH2 gene polymorphism was associated with the increased carotid IMT [OR=2.381, 95%CI (1.356, 4.213), P=0.004]. ConclusionThe ALDH2 gene polymorphism is correlated with the increased carotid IMT in the Han population of China Sichuan. The ALDH2 gene polymorphism may play an important role in genetic susceptibility of increased carotid IMT.
Objective To analyze a possible association of -A930G and C242T polymorphism with cognitive dysfunction in obstructive sleep apnea (OSA) patients, and assess potential interactions of CYBA alleles in OSA patients with cognitive dysfunction. Methods A total of 157 OSA patients with cognitive dysfunction were recruited as an experimental group, and 526 matched OSA patients without cognitive dysfunction as an control group. The neurocognitive assessment, polysomnography, genetic analyses, NADHP oxidase (NOX) activity, determination of urinary 8-OH-dG were completed in all subjects. Results Frequencies of the -930G allele carriers were not significantly different between two groups (P>0.05). Frequencies of the TT/CT genotypes were significantly higher in the OSA patients without cognitive dysfunction (P<0.05). NOX activity was assessed and found to be increased in the OSA patients with cognitive dysfunction (P<0.01). NOX activity was significantly higher in whom the allelic T variant was absent (P<0.05). The level of urinary 8-OH-dG was higher in the OSA patients with cognitive dysfunction (P<0.05). The level of urinary 8-OH-dG was significantly higher in whom the allelic T variant was absent (P<0.05). Conclusion The p22phox C242T polymorphism may be involved in the development of oxidative stress reaction in OSA patients with cognitive dysfunction.
Objective To systematically review the correlation between epidermal growth factor (EGF) 61A/G polymorphism and the risk of esophageal carcinoma. Methods Such databases as PubMed, EMbase, CJFD, CBM, CNKI, VIP and WanFang Data were electronically searched from inception to January 1st, 2013, to collect case-control studies on the correlation between epidermal growth factor (EGF) 61A/G polymorphism and the risk of esophageal carcinoma. Two reviewers independently identified the literature according to inclusion and exclusion criteria, extracted data, and assessed the quality of the included studies. Then, meta-analysis was performed using RevMan 5.1 and Stata 12.0 software. Results A total of six studies involving 1 448 cases and 1 728 control subjects were included. The results of meta-analysis showed that, there was no significant association between EGF 61A/G polymorphism and the risk of esophageal carcinoma (dominant model: AG+GG vs. AA: OR=1.22, 95%CI 0.91 to 1.65; and recessive model: GG vs. AG+AA: OR=1.35, 95%CI 0.94 to 1.94; AG vs. AA: OR=1.12, 95%CI 0.93 to 1.35; GG vs. AA: OR=1.43, 95%CI 0.83 to 2.47). The results of subgroup analysis grouped by ethnicity showed that, EGF 61A/G polymorphism increased the risk of esophageal carcinoma of the White population (dominant model: AG+GG vs. AA: OR=1.39, 95%CI 1.14 to 1.71; and recessive model: GG vs. AG+AA: OR=1.75, 95%CI 1.37 to 2.25; GG vs. AA: OR=1.93, 95%CI 1.47 to 2.55). However, it had no correlation to the risk of esophageal carcinoma of Asian population. Conclusion Current studies showed that, EGF 61A/G polymorphism is not associated with susceptibility to esophageal carcinoma , but it may increase the risk of esophageal carcinoma in White population. Due to limited quality and quantity of the included studies, the above conclusion needs to be verified by more studies with large sample size.
ObjectiveTo investigate the relationship between the polymorphisms of estrogen receptor α (ERα) gene PvuⅡ, XbaⅠ and breast hyperplasia. MethodsPolymerase chain reaction-restriction fragment length polymorphism was used to detect the polymorphisms of ERα gene PvuⅡ, XbaⅠ in breast hyperplasia patients (study group, n=89) and healthy controls (control group, n=35). ResultsThe differences of the genotypic frequency and allele frequency of the ERα gene Xba Ⅰ were significant between the study group and the control group (Plt;0.05). According to analysis of the odds ratio (OR), the risk of developing breast hyperplasia for X allele carriers was 0.551 as compared with x allele carriers. But there was no significant difference for the gene polymorphism of PvuⅡ between the study group and the control group (Pgt;0.05). ConclusionThe polymorphisms of XbaⅠof ERα gene is associated with breast hyperplasia and the mutant gene increases breast hyperplasia risk.