EGFR Mutation Status among NSCLCs in Southern Shaanxi / 现代生物医学进展

Objective:To analyze the EGFR gene polymorphism in the non-small cell lung (NSCLCs) cancer in southern of Shaanxi Province.Methods:The next generation sequencing technology was used to detect the mutation of exon 18,19,20 and 21 of EGFR gene.We analyzed EGFR gene mutation rate in NSCLCs patients.233 patients was involved in our study.Results:82 cases with EGFR gene mutations was found,the mutation rate of exon18,19,20 and 21 was 1.3％,16.3％,0％ and 18％ respectively.The mutation rate of EGFR in male patients was lower (31.2％,39/125) than that of female cases (39.8％,43/108),the mutation rate of squamous cell carcinoma (22％,9/41) was lower than that of adenocarcinoma (39.1％,75/192).Conclusions:NSCLCs patients from southern Shaanxi Province had high mutation rate ofEGFR gene,and exon 19 and exon 21 mutations were in the majority.EGFR gene mutation rate was not related to gender and pathological types.

Variation and Significance of Anticentromere Antibody(ACA) in Multi-Diseases / 现代检验医学杂志

Objective To study the expression of anticentromere antibody (ACA)on multiple diseases to help the clinical diag-nosis and treatment.Methods The clinical and laboratory data of 129 cases with positive ACA were retrospectively ana-lyzed.Results ①116 females and 13 males were found among 129 cases with positive ACA,and serology titer of ACA in fe-male patients was higher than male and more compound antibody were shown in female patients,which was significantly dif-ferent compared with males (χ2=6.28,P=0.01;χ2=6.85,P=0.003).②Among 118 cases which had detailed clinical in-formation,there were 65 patients suffered from autoimmune diseases (55.08%)and 53 cases suffered from non-autoimmune diseases (44.92%).Autoimmune disease cases showed more compound and high serology titer,there were significant differ-ence between the two groups (χ2=21.97,P<0.001;χ2=11.44,P=0.001).Conclusion Though ACA was rarely found,it was shown in autoimmune and non-autoimmune diseases and can be not too severe or fetal and even lead to multi-organ fail-ure.So it should be taken seriously.

Association of interferons regulatory factor 5 gene polymorphisms with rheumatoid arthritis in shaanxi ;Han Chinese population / 中华风湿病学杂志

Objective Previous studies have shown that genetic variants in the interferons regulatory factor 5 (IRF5) gene are associated with rheumatoid arthritis (RA) in European and Japanese, but not found in Han Chinese. We conducted this study to investigate whether genetic variants in the IRF5 gene are associated with RA in ShaanXi Han Chinese population. Methods This study was collected 576 RA patients and 768 normal controls. Six IRF5 gene polymorphisms (rs729302, rs2004640, rs752637, rs3807306, rs10954213 and rs2280714) were genotyped by the SNaPshot method. T-test and χ2 test were used for statistic analysis. The genotype and allele frequencies were evaluated using the chi square tests. Genotyping data were adjusted by Logistic regression method by age and gender. The linkage disequilibrium (LD) block structure was examined using Hapview 4.2 software. Results Six SNPs inspected complied with Hardy-weinberg equilibrium (P>0.05). Two SNPs were significantly associated with RA: rs729302 A risk allele [OR=1.29, 95%CI (1.10, 1.50), P=5.57×10-3];dominant model [OR=1.58, 95%CI (1.10, 2.27), P=0.024], recessive model [OR=1.31, 95%CI (1.17, 1.64), P=0.028]. rs2004640 T risk allele [OR=1.28, 95%CI (1.08, 1.54), P=0.039]; dominant model [OR=1.27, 95%CI (1.03, 1.58), P=0.036]. In addition, there was no significant difference in rs752637, rs3807306, rs10954213 and rs2280714 SNPs between RA group and control and genotyped polymorphisms were significantly associated with RA susceptibility. Conclusion The present study confirm that rs729302 and rs2004640 in the IRF5 gene is significantly associated with increased risk of RA in ShaanXi Han Chinese population.