ObjectiveTo investigate the relationship between the gene polymorphism of autophagy-related gene 3 (ATG3) and the development and clinical symptoms of tuberculosis in tuberculosis patients in western China.MethodsAccording to the inclusion and exclusion criteria, 476 tuberculosis patients (tuberculosis group) who were admitted to West China Hospital of Sichuan University from December 2014 to November 2015 and 475 healthy controls (healthy control group) who underwent health examination during the same period were finally included. High-throughput genotyping technology was used to detect genotypes of three single nucleotide polymorphisms (SNPs) (rs2638029, rs2638037, rs3732817) of ATG3 gene, and relevant clinical data of subjects were collected. The relationship between gene polymorphism and susceptibility to tuberculosis and clinical symptoms was analyzed by statistical methods such as χ2 test and logistic regression model.ResultsExcept for GA genotype [odds ratio (OR) =1.375, 95% confidence interval (CI) (1.048, 1.805), P=0.022] and dominant genetic model GG+GA [OR=1.326, 95%CI (1.024, 1.717), P=0.032] in rs2638037, there was no statistically significant difference in the allele frequency, genotype and genetic patterns of rs2638029, rs3732817 and rs2638037 between the two groups (P>0.05), after the adjustment of the gender and age. But after correction by Bonferroni, GA genotype and dominant genetic patterns GG+GA showed no statistical significance between the two groups (P=0.132, 0.201). Haplotype CGA was associated with tuberculosis susceptibility [OR=1.262, 95%CI (1.001,1.593), P=0.048]. There was a statistically significant difference in weight loss symptoms among rs2638037 genotypes (χ2=8.131, P=0.017).ConclusionsThe haplotype CGA of three SNPs of ATG3 gene may be involved in the development of tuberculosis. The rs2638037 single nucleotide polymorphism may be related to weight loss, and more research is needed in the future.
Objective To review the research progress of bone morphogenetic protein (BMP) and the liability of ossification of the posterior longitudinal ligament (OPLL). Methods Recent literature concerning BMP and the liability of OPLL was reviewed, analysed, and summarized. Results The single nucleotide polymorphisms (SNPs) of BMP gene may produce a minor cumulative effect and increase individual susceptibility to OPLL. A variety of environmental factors can promote the occurrence and development of OPLL by increasing the expression of BMP gene. Conclusion The SNPs of BMP gene may increase individual susceptibility to OPLL. However, interaction of cumulative effect of the SNPs and environmental factors can promote the liability to OPLL.
Objective To summarize the application and prospect of susceptibility weighted imaging （SWI） in diagnosis of hepatic disease. Methods The application of SWI in diagnosis of hepatic disease was analyzed retrospectively via reviewed the literatures home and abroad, and to look forward to the future of the clinical values of SWI. Results A number of hepatic diseases such as cirrhosis, hematochromatosis， and malignant tumors could induce iron overload in hepatic cell and Kuffper cell. Because of SWI is sensitive to vein， vascular abnormality, haemorrhage （including all kinds of metabolities after bleeding）， iron overload， calcification, and so on, so the use of SWI in hepatic disease is explored continually. Conclusions SWI may be a new method for diagnosis of hepatic disease, which can supply more valuable information for clinician.
ObjectiveTo investigate the correlation of X-ray repair cross-complementing gene 1 (XRCC1-Arg399Gln, Arg280His, and Arg194Trp) polymorphisms and susceptibility to gastric cancer. MethodsOne hundred and twenty patients with gastric cancer were included in study group, 120 healthy volunteers were included in control group. The DNA was extracted from peripheral blood. Arg399Gln, Arg280His, and Arg194Trp gene polymorphisms were detected and analyzed using polymerase chain reaction-restriction fragment length polymorphism technique, and the susceptibility between different genotypes and gastric cancer was compared in two groups. ResultsThe age, gender, smoking, drinking, diet, and other common characteristics of exposure factors had no significant differences in two groups (P > 0.05). The mutation locus genotype frequencies of Arg399Gln and Arg280His had no significant differences between two groups (P > 0.05). However, the mutation locus genotype frequencies of Arg/Trp, Trp/Trp, and Arg/Trp+Trp/Trp were higher and the mutation locus genotype frequency of Arg/Arg was lower in the study group as compared with the control group (P < 0.05). ConclusionThe preliminary results from this study shows that XRCC1 Arg399Gln and Arg280His polymorphisms are not correlated with susceptibility to gastric cancer; However, Arg194Trp polymorphism is correlated with susceptibility to gastric cancer.
ObjectiveTo explore the single locus mutation that related to hepatitis B virus (HBV) co-infection by means of genome-wide association study (GWAS) in Chinese Han patients with pulmonary tuberculosis (TB).MethodsA total of 946 patients with pulmonary TB enrolled between March 2013 and March 2018 were genotyped by Illumina Human Omni Express gene chip. After quality control, 389 972 single nucleotide polymorphisms (SNPs) of 703 patients with single TB infection and 53 patients with TB-HBV co-infection were included in the follow-up association analysis.ResultsThe SNP with the strongest statistical correlation signal was rs118122819 (P=2.923×10−12, odds ratio=7.933) located on chromosome 8p23.1. Other potential susceptibility genes included CDH4 (rs73309833), MARCH1 (rs3797020), and DNER (rs13393112), etc. In addition, a strong linkage imbalance between rs118122819 and rs4840365 (D’=0.88, r2=0.76) was found, while rs4840365 was located in the MFHAS1 gene region.ConclusionsThis study provides evidence for the presence of susceptibility gene locus for HBV co-infection in pulmonary TB patients, and provides important clues for the mechanism research, disease prevention, and treatment of co-infection. But these associations must be replicated and validated in larger studies.
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.
Tuberculosis remains a major public health problem. Genetic epidemiological studies have shown that the differences in host genes partly determine the susceptibility to tuberculosis. The occurrence of tuberculosis is the result of the joint action of Mycobacterium tuberculosis and host gene regulation immune response. The study of susceptibility candidate genes has differences in race, population and region, and the study of susceptibility gene polymorphism still has a long way to go in clinical precision diagnosis and treatment. The study and clinical application of mendelian susceptibility to mycobacterial disease can be used as a classic application of precision medical treatment in tuberculosis; although it is a rare case, this model is worthy of reference.
ObjectiveTo investigate the relationship between the G196A and C270T polymorphism and epilepsy.MethodsDatabase including PubMed, EMbase, the Cochrane Library, CNKI and Wan fang data were retrieved upto September, 2017 to collect the case-control study concerning BDNF two polymorphisms G196A/C270T and epilepsy. Two reviewers independently screened the literature, extracted the data, and assessed the quality of methodology. Then Meta-analysis was performed using RevMan 5.2 software.Results①A total of 9 studies were included in the Meta-analysis between BDNF G196A and epilepsy. The studies included 1841 epilepsy patients and 6467 healthy control subjects. The G allele increase the risk of epilepsy[OR=1.13, 95%CI (1.06–1.21), P=0.0001]. When stratified by Asian and western subgroup, a similar trend of associated was detected with Asian epilepsy patients [OR=1.13, 95%CI (1.05–1.20), P=0.0004]. When stratified by epilepsy type, the G allele increase the risk of temporal lobe epilepsy [OR=1.18, 95%CI (1.04–1.34), P=0.008]. ② The Meta-analysis between BDNF C270T and epilepsy included 4 studies, 594 epilepsy patients and 738 healthy control subjects. The result suggested the frequency of the CT genotype and of the C270T T allele was not associated with epilepsy.ConclusionsBDNF G196A polymorphism is a susceptibility locus for temporal lobe epilepsy and Asian epilepsy patients.
Objective To investigate the relationship of p53 codon 72 polymorphism and susceptibility to gastric cancer in high incidence area of Hexi area of Gansu province. Methods The Arg/Pro polymorphism of p53 gene was detected by real-time PCR in 140 patients with gastric cancer, 110 patients with gastric precancerous lesion and 125 healthy controls; Helicobacter pylori (Hp) infection was detected by Warthin-Starry silver method． Results The Pro allele frequencies of p53 gene in gastric cancer cases (0.543) were higher than those in gastric precancerous lesion (0.482) and controls (0.472). The Pro genotype had a more than 1.846 fold increased risk of gastric cancer 〔OR=1.846; 95% 〗CI (1.006-3.387); P =0.046〕． With statistical analysis， the genotype of p53 gene was correlated with location and Laurens histological type （ P ＜ 0.05）. A significantly higher risk of gastric cancer was also seen in cases with p53 Pro genotype, food, Hp infection, positive mind factor and positive family history． Conclusion There is a b correlation between the p53 gene codon 72 Arg/Pro polymophism and susceptibility to gastric cancer in Hexi area of Gansu province and the Pro/Pro genotype may be one of the major risk factors in patients with gastric cancer.
ObjectiveTo evaluate the feasibility of susceptibility weighted imaging (SWI) in determining pathologic grade of hepatocellular carcinoma (HCC) in rat model. MethodsRat models were established first and SWI was performed before killing rats to be examined pathologically. The Edmondson-Steiner grading was used as gold reference for histological grade of HCC. The characters of intratumoral susceptibility signal intensity (ITSS) between lowand high-grade HCCs were compared. The diagnostic value of ITSS in differentiating lowfrom high-grade HCCs was evaluated. ResultsForty eight rat models of HCC were successfully established. Thirty two HCCs (18 low-grade HCCs and 14 highgrade HCCs) were included finally. The incidence of ITSS between two groups was not significant (P=0.113). Characters including component of ITSS (P=0.002) and ratio of ITSS in HCC (P < 0.001) were compared between lowand high-grade HCCs, which were both statistically significant. When score of ratio of ITSS in HCC was assessed as 2 scores, the sensitivity and specificity of ITSS in differentiating lowfrom high-grade HCCs were 85.7% (95% CI:74.9%-96.5%) and 94.4% (95% CI:83.6%-100%) respectively, and the area under roc curve (AUC) was 0.917. ConclusionSWI can evaluate characters of ITSS in HCC and can be an alternative method in grading HCC.