目的 乳腺癌是世界范围内最常见的恶性肿瘤之一。目前,人们对乳腺癌的发病机制进行了大量的研究,但对其分子机制的认识尚不清楚。本研究采用生物信息学技术,筛选乳腺癌潜在的关键基因,最终为乳腺癌的诊断、治疗及预后判断提供潜在的生物标记物。方法 从基因表达综合数据库(GEO)下载基因芯片GSE36295、GSE71053和GSE86374,通过GEO2R鉴定差异表达基因(DEGs),并进行功能富集分析。利用STRING构建了蛋白质-蛋白质相互作用网络(PPI),并采用Cytoscape进行了模块分析。结果 共鉴定出95个DEGs,包括62个上调基因和33个下调基因。共鉴定出10个Hub基因:CENPF、KIF2C、TOP2A、NUSAP1、HMMR、MELK、KIF4A、ASPM、CEP55、CCNB1。结论 本研究发现的Hub基因可能对乳腺癌的发展和预后存在一定影响,为乳腺癌的诊断和治疗提供候选靶点。

Objective Breast cancer is one of the most common cancers worldwide. At present, a lot of researches have been carried out on the pathogenesis of breast cancer, but the molecular mechanisms of breast cancer are still not well understood. In this study, bioinformatics technology was used to screen the potential key genes of breast cancer, and ultimately to provide potential biomarkers for the diagnosis, treatment and prognosis of breast cancer. Methods The microarray datasets GSE36295、GSE71053和GSE86374 were downloaded from Gene Expression Omnibus (GEO), and the differentially expressed genes (DEGs) were identified by GEO2R, and the enriched functions and pathways of the DEGs were analyzed. Protein-protein interaction network (PPI) was constructed by using String, and the module analysis was performed using Cytoscape. Results A total of 95 DEGs were identified, consisting of 62 upregulated genes and 33 downregulated genes.Ten hub genes were identified: CENPF,KIF2C,TOP2A,NUSAP1,HMMR,MELK,KIF4A,ASPM,CEP55,CCNB1. Conclusion The hub gene was found in this study may be involved in the development and prognosis of breast cancer. It may provide candidate targets for diagnosis and treatment of breast cancer.

目的 探讨HHIP基因单核苷酸多态性与新疆蒙古族慢性阻塞性肺疾病易感性之间的关系。方法 以259例蒙古族吸烟慢性阻塞性肺疾病患者为病例组,245例蒙古族吸烟健康体检者为对照组,提取外周血标本 DNA,运用Taqman分型技术检测HHIP基因rs13118928、rs13141461位点多态性。结果 HHIP基因rs13118928、rs13141461位点基因型与等位基因在病例组和对照组之间的频率分布,结果显示差异有统计学意义(P<0.05)。rs13118928位点基因型AG、GG,等位基因G在病例组与对照组分布差异有统计学意义(P<0.001),且OR<1,可能降低发生COPD的风险。rs13141461位点基因型TC在病例组与对照组分布差异无统计学意义(P>0.05),rs13141461位点基因型CC, 等位基因C在病例组与对照组分布差异有统计学意义(P<0.05),且OR>1,可能增加发生慢阻肺的风险。rs13118928、rs13141461位点基因型与肺功能 FEV1%预计值比较差异有统计学意义(P<0.05)。结论 HHIP基rs13118928、rs13141461位点多态性可能与新疆蒙古族人群慢阻肺的发生有关。

Objective To explore the relationship between HHIP gene single nucleotide polymorphism and the susceptibility of Mongolian chronic obstructive pulmonary disease.Methods DNAs were extracted from the peripheral blood of 259 patients with COPD (case group) and 245 healthy controls (control group) from Xinjiang Mongolian population. Polymorphisms of HHIP rs13118928 and rs13141461 were determined by the Taqman PCR method.Results The frequency of HHIP rs13118928 and rs13141461 genotypes and alleles in the case group and the control group showed significant difference (P<0.05). HHIP rs13118928 genotype, AG, GG and allele G were significantly different between case group and control group (P<0.001), and OR<1. It could reduce the risk of COPD. There was no significant difference in HHIP rs13141461 genotype TC between the case group and the control group (P>0.05). HHIP rs13141461 genotype CC and allele C were significantly different between the case group and the control group (P<0.05), and OR>1. It may increase the risk of COPD. The difference of HHIP rs13118928, rs13141461 and FEV1% predicted value was statistically significant(P<0.05).Conclusion The polymorphism of HHIP rs13118928 and rs13141461 may be related to the occurrence of COPD in Xinjiang Mongolian population.