Genetic susceptibility of gastric cancer with single nucleotide polymorphisms(SNPs) of apoptotic genes - caspase-3 and caspase-7 / 实用肿瘤学杂志

Objective The SNPs of caspase family have been studied in breast cancer,head and neck cancer,esophageal cancer,lung cancer and other cancer. There are few studies between the SNP of CASP3,7 and the risk of gastric cancer in Chinese population. The aim of this study was to investigate the relationship between the SNP of CASP3,7 genes and the genetic susceptibility of gastric cancer using large samples. Methods Blood samples from 1000 cases of gastric cancer and 1036 cases of normal non-cancer control in Northeast China were collected for genomic DNA extraction. Based on the dbSNP NCBI database and HapMap data-base,potential SNP sites were selected for CASP3,7,which locate CASP3,CAS′s 3′UTR. The Tasman probe method was used for gen-otyping of the SNP sites of CASP3,7. The difference between the different variables in the case-control group was analyzed by the bi-lateral χ2 test. After the Hardy-Weinberg genetic balance test for each locus,the χ2 test was used to compare the genotype frequency differences between the case and control groups. Univariate and multivariate logistic regression models were used to analyze the associ-ation between genotype and disease. The stratification analysis of each locus compared the genotypes between the different sexes,ages, smoking,and drinking status. Results The χ2 test compared the differences between the case and control groups. The results showed that there was a significant difference in the smoking,drinking status and smoking in packet number( Pack-years) between the case and control groups(P<0. 05). The genotype frequencies of selected loci were in accordance with Hardy-Weinberg′s law of genetic balance(P>0. 05). Combining and analyzing genotypes with risk alleles,there showed that individuals with two risk genotypes in- creased by 69. 6% in comparison with individuals with 0~1 risk genotype. After adjusted for covariate effects,individuals with three risk genotypes were increased by 27. 6% when compared to individuals with 0~1 risk genotypes. Individuals with more than one risk genotype were increased by 35% when compared to individuals with 0-1 risk genotypes. In the stratified analysis,after combination of two genes,the risk genotype in the sub-layer of age ≤60 years old,male,never smoking,annual smoking package ≤25,gastric non-cardiac adenocarcinoma was statistically associated with disease,i. e. more risk of gastric cancer. Conclusion Univariate analy-sis showed that the SNPs at the four sites selected in this study were not associated with the risk of gastric cancer. However,multivari-ate analysis of CASP3 and CASP7 at the four sites showed that individuals with two risk genotypes increased the risk of gastric cancer in comparison with individuals with 0~1 risk genotypes. In addition,after stratified analysis of the two sites of CASP7,the risk of gas-tric cancer is more obvious in people aged≤60 years,never smoking or smoking≤25 packs per year,and non-gastric cardia adeno-carcinoma.

Identification of a novel STK11 gene mutation in a family affected with hereditary Peutz-Jeghers syndrome / 中华医学遗传学杂志

OBJECTIVE To explore the genetic basis for a family affected with Peutz-Jeghers syndrome (PJS). METHODS Genomic DNA was extracted from peripheral blood and oral swab samples from the patient and her relatives. Next-generation sequencing (NGS) was used to analyze 106 target genes by capturing the exons and adjacent intronic regions. Suspected pathogenic mutation was verified by NGS. RESULTS A missense STK11 mutation was detected in the proband, which was not reported previously. The mutation has caused substitution of Leucine by Proline. NGS has detected the same mutation in the mother but not among other relatives. CONCLUSION This hereditary case of PJS may be attributed to the missense mutation of the STK11 gene.

Packaging of Rift Valley fever virus pseudoviruses and establishment of a neutralization assay method

Rift Valley fever (RVF) is an acute, febrile zoonotic disease that is caused by the RVF virus (RVFV). RVF is mainly prevalent on the Arabian Peninsula, the African continent, and several islands in the Indian Ocean near southeast Africa. RVFV has been classified by the World Organisation for Animal Health (OIE) as a category A pathogen. To avoid biological safety concerns associated with use of the pathogen in RVFV neutralization assays, the present study investigated and established an RVFV pseudovirus-based neutralization assay. This study used the human immunodeficiency virus (HIV) lentiviral packaging system and RVFV structural proteins to successfully construct RVFV pseudoviruses. Electron microscopy observation and western blotting indicated that the size, structure, and shape of the packaged pseudoviruses were notably similar to those of HIV lentiviral vectors. Infection inhibition assay results showed that an antibody against RVFV inhibited the infective ability of the RVFV pseudoviruses, and an antibody neutralization assay for RVFV detection was then established. This study has successfully established a neutralization assay based on RVFV pseudoviruses and demonstrated that this method can be used to effectively evaluate antibody neutralization.

Research progress in the relationship between insulin like growth factor binding protein-2(IGFBP-2) and lung cancer / 实用肿瘤学杂志

As a high sensitive biomarker of lung cancer ,IGFBP2 plays an important role in the occur-rence,development and treatment of lung cancer .Studies have showed that it promotes tumor progression by acti-vating the IGF1R and integrin mediated signal transduction pathway .Recent researches have demonstrated that it participates in targeted therapy of lung cancer ,which may become a new target for the treatment of lung cancer . This paper makes a review on the relationship between IGFBP 2 and lung cancer .

STAT3 promotes lung adenco arcinoma EM T by up-regulating Twist expressing / 实用肿瘤学杂志

Objective To study effects of signal transducer and activator of transcription 3(STAT3)gene on lung adenocarcinoma cells′EMT.Methods We observed morphological changes of the cells and detected the expression of STAT 3 and Twist by western blot after STAT3-siRNA plasmid was transfected into A549 cells. Meanwhile ,we observed invasion and migration ability of A 549 cells using transwell method and wound healing assay .Eventually ,we verified the correlation between STAT 3 and Twist expression in lung adenocarcinoma tissues by immunohistochemical method .Results si-STAT3 significantly down-regulated the expression of STAT 3 in A549 cells,and pronouncedly inhibited migration and invasion of A 549 cells in vitro.Meanwhile,we also found decreased expression of Twist .The expression of STAT3 was positively correlated with the expression of Twist in lung adenocarcinoma tissue specimens and the expression of two genes was reversely correlated with tissue differ -entiation degree .Conclusion The STAT3 participated in the process of EMT by regulating twist expression , which played a vital role in progression of lung adenocarcinoma .