Objective To review the research progress in relationship between hereditary diffuse gastric cancer (HDGC) and CDH1 gene. Methods Literatures on HDGC which were published in recent years were collected and analyzed. Results Aberrant CDH1 gene is significantly correlated with HDGC: mutations of CDH1 exons play the most important role in pathogenesis of HDGC. Screening CDH1 gene mutation is useful for diagnosis of HDGC as well as the treatments. Alterations of CDH1 other than exon mutation, such as intron mutation, gene promoter methylation and single nucleotide polymorphism may result in downregulation of the gene expression. Further study should be done to confirm the roles of these alterations. Conclusions Alterations of CDH1 gene are significantly associated with the pathogenesis of HDGC. Detecting alterations of CDH1 gene are important for diagnosis and management of HDGC as well as to get insights of the pathogenesis of the disease.
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 explore the association between a single nucleotide polymorphism in PALB2 rs249954 and breast cancer.MethodsStudies regarding the association between a single nucleotide polymorphism in PALB2 rs249954 and breast cancer were searched from CNKI, WanFang, CBM, PubMed, Embase, Cochrane Library, Science Direct, and Web of Science. The eligible studies were screened based on the inclusion, exclusion criteria, and principle of quality evaluating. Meta-analysis and the assessment of published bias were performed by Stata 14.0 software.ResultsA total of 7 studies were eligible for this study, including 3 247 cumulative cases of breast cancer and 3 294 controls. Through the comparison of a variety of genetic models, we found that there was no significant for the OR of additive model〔T vs C: OR=1.14, 95% CI was (0.95, 1.37), P=0.156〕 , dominant gene model〔CT+TT vs CC: OR=1.22, 95% CI was (0.97, 1.54), P=0.088〕 , recessive gene model〔TT vs CT+CC: OR=1.11, 95% CI was (0.84, 1.45), P=0.464〕 , codominant gene model CC vs TT and TT vs CT〔 OR=0.79, 95% CI was (0.54, 1.15), P=0.226; OR=0.95, 95% CI was (0.82, 1.11), P=0.523〕 ; there was significant difference for codominant gene model CC vs CT〔OR=0.82, 95% CI was (0.67, 1.00), P=0.048〕 , but the conclusion was different after sensitivity analysis. Besides, there was notable difference for overdominant model〔CC+TT vs CT: OR=0.85, 95% CI was (0.77, 0.94), P=0.001〕 .ConclusionThe mutant genotype heterozygous (CT) of rs249954 in PALB2 will increase the breast cancer risk.
Objective
To systematically review the correlation between polymorphism of DNA methyltransferase 1(DNMT1) rs16999593 and the susceptibility of breast cancer.
Methods
Databases such as PubMed, EMbase, Web of Science, Chinese Biomedical Literature Database, CNKI, WanFang, and VIP database were searched from inception to Mar. 2017 to collect case-control studies on the correlation between DNMT1 rs16999593 C/T polymorphism and the susceptibility of breast cancer. Two reviewers independently identified the literatures according to inclusion and exclusion criterias, extracted data, and assessed the quality of the included studies. The meta-analysis was performed by using RevMan 5.3 software.
Results
A total of 5 studies involving 1 741 cases and 1 917 control subjects were included. The results of meta-analysis showed that, dominate model ［TT+TC vs. CC: OR=0.63, 95% CI was (0.30, 1.30), P=0.21］, homozygous model ［TT vs. CC: OR=1.01, 95% CI was (0.70, 1.47), P=0.95］, heterozygous model ［TC vs. CC: OR=0.44, 95% CI was (0.18, 1.04), P=0.06］, and additive model ［T vs. C: OR=1.29, 95% CI was (0.90, 1.86), P=0.16］ were not significantly related to breast cancer, but recessive gene model was related to breast cancer ［TT vs. TC+CC: OR=1.74, 95% CI was (1.01, 3.00), P=0.04］.
Conclusion
The current studies showed that, DNMT1 rs16999593 TT genotype decreases the susceptibility of breast cancer.
Objective To assess any potential associations between lung cancer and gut microbiota. Methods Mendelian randomization (MR) analysis was carried out by utilizing summary data from genome-wide association studies (GWAS) of the gut microbiota and lung cancer. The gut microbiota served as an exposure. Instrumental ariables (IVs) were identified from the GWAS of 18340 participants. The GWAS study of lung cancer from Europe served as an outcome, including 29 266 lung cancer patients and 56450 controls. We used the inverse-variance weighted (IVW) method as the primary analysis. Sensitivity analysis was used to test the reliability of MR analysis results. Results IVW results showed that Genus Parabacteroides (OR=1.258, 95%CI 1.034 to 1.531, P=0.022) and Phylum Bacteroidetes (OR=1.192, 95%CI 1.001 to 1.419, P=0.048) had a positive causal association with lung cancer, and there was a negative causal association between family Bifidobacteriaceae (OR=0.845, 95%CI 0.721 to 0.989, P=0.037) and order Bifidobacteriales (OR=0.865, 95%CI 0.721 to 0.989, P=0.037) with lung cancer. Sensitivity analysis showed no evidence of reverse causality, pleiotropy, and heterogeneity. Conclusion This study demonstrates that Genus Parabacteroides and Phylum Bacteroidetes are related to an increased risk of lung cancer, family Bifidobacteriaceae and order Bifidobacteriales can reduce the risk of lung cancer. Our thorough investigations provide evidence in favor of a potential causal relationship between a number of gut microbiota-taxa and lung cancer. To demonstrate how gut microbiota influences the development of lung cancer, further research is necessary.
Objective To investigate the correlation between CYP2C19 gene polymorphisms and the incidence and prognosis of heart failure. Methods 1 368 patients who underwent parallel genomic testing and visited the Department of Cardiology at the People’s Hospital of Xinjiang Uygur Autonomous Region between June 2021 and December 2022 were selected. After quality control of genotype data, the patients were divided into a heart failure group and a control group based on diagnostic criteria. Genotyping of 31 genes and 62 single nucleotide polymorphism (SNPs) was performed using TaqMan-SNP genotyping technology. Differences in allele distribution and clinical indicators between the two groups were compared, and the incidence of cardiovascular adverse events in the heart failure group was followed up and calculated. Results A total of 1 352 patients were included. Among them, there were 169 cases in the heart failure group and 1 183 cases in the control group. At the rs12769205 locus of the CYP2C19 gene, the risk of disease for patients carrying the G allele was lower than those carrying the A allele (odds ratio=0.733, P=0.023). In addition to age, coronary heart disease, BMI, and the type of allele was also an independent influencing factor for heart failure (P＜0.05). Moreover, the level of cardiac troponin T in carriers of two mutant alleles was significantly higher than in carriers of one mutant allele (P =0.044) and in carriers of the wild-type allele (P=0.028). During the follow-up period, no significant differences were observed in the cumulative incidence of major cardiovascular adverse events among the three genotypes at the rs12769205 locus. Conclusion The polymorphic locus rs12769205 of the CYP2C19 gene is associated with the occurrence of heart failure, which may provide a theoretical basis for the diagnosis and treatment of heart failure.
Objective To summarize results of the correlation of tumor necrosis factor-α (TNF-α) promoter –308A/G polymorphism with systemic lupus erythematosus (SLE) susceptibility in Chinese populations. Methods We collected all the publications about the correlation between TNF-α promoter –308A/G polymorphism and SLE in Chinese populations by searching PubMed, EBSCO, CBM, CNKI and Wanfang Data before the date of March 20, 2010. Meta-analysis was performed for checking the difference between two groups about genotypes such as AA versus GG, GA versus GG, AA versus GG+GA, GA+AA versus GG, and A allele versus G allele. Results A total of 8 studies involving 731 SLE patients and 901 healthy people were included. The meta-analysis of total populations showed that, there was no significant correlation between A allele and increased SLE risk (OR=1.42, 95%CI 0.97 to 2.09, P=0.07); the meta-analyses of populations in different regions showed there was no significant correlation of A allele and increased SLE risk in Chinese Taiwan populations (OR=1.04, 95%CI 0.77 to 1.40, P=0.82). Moreover, there was no significant difference between SLE group and control group in the genotypes of AA versus GG, GA versus GG, AA versus GG+GA, and GA+AA versus GG.Conclusion This meta-analysis dosen’t demonstrate the correlation between TNF-α promoter–308A/G polymorphism and SLE in Chinese populations.
ObjectiveTo investigate the associations of signal transducers and activators of transcription 6 (STAT6) gene polymorphisms with susceptibility to tuberculosis in western Chinese Han population.MethodsA total of 900 tuberculosis patients and 1 534 healthy controls of West China Hospital of Sichuan University were enrolled from January 2014 to February 2016. Improved multiplex ligation detection reaction method was used to detect four polymorphisms (rs1059513, rs73118432, rs841718, and rs10783813) of STAT6 gene. The allelic frequencies, genetic types, and different genetic models were analyzed using the chi-square test and unconditional logistic regression models to evaluate the associations of STAT6 gene with tuberculosis risk.ResultsEventually, a total of 856 cases and 1 511 health controls were recruited in our study. No significant differences were observed in allele frequencies, genotype distributions, or genetic models (additive model, dominant model and recessive model) at rs1059513, rs73118432, rs841718, and rs10783813 in STAT6 gene (P>0.05). We found a strong linkage disequilibrium among rs73118432, rs841718, and rs10783813, but there was no statistical difference in haplotype frequencies between the two groups (P>0.05).ConclusionsSTAT6 gene rs73118432, rs841718, rs10783813, and rs1059513 polymorphisms might have no associations with tuberculosis susceptibility in western Chinese Han population. Further studies with larger sample sizes are needed to comfirm these results.
Objective To investigate the correlation between OPRM1 A118G gene polymorphism and Eysenck personality type and pain sensitivity. Methods The surgical patients who were transferred from Department of Emergency Medicine to Department of General Surgery of Luzhou People’s Hospital between January 2018 and December 2020 were selected. Before surgery, Eysenck Personality Questionnai (EPQ) was used to investigate the patient’s personality type, and the pain threshold and pain tolerance threshold were determined by electric stimulation instrument. The OPRM1 A118G genotype of peripheral venous blood was detected by polymerase chain reaction-restriction fragment length polymorphism analysis technique. Patients were divided into wild homozygous (A/A) group, mutant heterozygous (A/G) group and mutant homozygous (G/G) group according to the typing results. The general condition, pain sensitivity, EPQ score, difference of Eysenck personality type and correlation between Eysenck personality type and pain sensitivity were analyzed. Results A total of 356 patients were enrolled, including 174 in A/A group, 136 in A/G group and 46 in G/G group. The mutation rate of OPRM1 A118G gene was 32.00%. There were statistically significant differences in pain sensitivity (pain threshold, pain tolerance threshold) and scores of introverted and extraverted, neurotic and dissemble personality types among three groups (P<0.05). There were significant differences in introverted and extraverted and psychotic personality types among the three groups (P<0.05). There were significant differences in pain threshold and pain tolerance threshold among different introverted, extraverted and psychotropic personality types (P<0.05). Conclusion Both OPRM1 A118G gene polymorphism and Eysenck personality type have influence on pain sensitivity, and there is a correlation between them.
ObjectiveTo evaluate the relationship between tumor necrosis factor-α (TNF-α) gene promoter-308 G/A polymorphism and ankylosing spondylitis (AS) in Chinese population by meta-analysis.
MethodsThe casecontrol studies about the correlation between TNF-α gene polymorphism and AS in Chinese population were retrieved from PubMed, EMbase, CNKI, CBM, WanFang Data and VIP database by two researchers. The retrieval time was from their establishment to December, 2015. After the paper screening, data extraction, and assessment of bias risk, the metaanalysis was conducted by Stata 12.0 software.
ResultsA total of 11 case-control studies involving 1 154 AS patients and 1 458 controls were included. The results of meta-analysis showed that, for Chinese population, there was no significant association between TNF-α-308 G/A polymorphism and AS susceptibility (A vs. G: OR=0.96, 95% CI 0.63 to 1.47, P=0.86; AA vs. AG: OR=0.97, 95% CI 0.51 to 1.84, P=0.93; AA vs. GG: OR=0.92, 95% CI 0.32 to 2.61, P=0.87; AA+AG vs. GG; OR=1.04, 95% CI 0.60 to 1.80, P=0.89; AA vs. AG+GG: OR=1.03, 95% CI 0.58 to 1.82, P=0.92).
ConclusionTo date, it has not found the relationship between TNF-α gene promoter-308 G/A polymorphism and AS in Chinese population. For the quantity and quality limitation of the included studies, the conclusion has to be verified by more large-scale highquality studies.
