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目的 分析ABCC2基因表达水平与肺腺癌预后之间的关联性,并对其影响机制进行初步探索。 方法 采用TCGA数据库和HPA数据库对肺腺癌病人癌组织和癌旁组织基因表达数据进行差异性分析,单因素及多因素COX回归评估ABCC2与肺腺癌预后之间的关联性,GSEA用于探讨与ABCC2显著关联的信号通路。 结果 ABCC2在肺腺癌肿瘤组织中存在过表达现象,Kaplan-Meier生存分析曲线结果显示ABCC2基因过表达使肺腺癌病人的死亡风险显著升高(HR=1.46,95%CI=1.09~1.95; P=0.010)。单因素及多因素COX回归结果显示ABCC2基因过表达是肺腺癌病人不良预后的独立危险因素。GSEA结果显示ABCC2可能通过调节药物代谢从而对肺腺癌的发展进行调控。 结论 ABCC2基因过表达使肺腺癌病人的死亡风险显著升高,ABCC2可能是肺腺癌不良预后的潜在分子生物标志物。

Objective To estimate the association between ABCC2 mRNA expression and the prognosis of lung adenocarcinoma and explore the potential influencing mechanism.Methods Difference analysis was used to evaluate the gene expression in tumor tissues and adjacent normal tissues based on The Cancer Genome Atlas database and Human Protein Atlas database.Multivariate COX regression and Kaplan-Meier analysis were performed to evaluate the association between ABCC2 gene expression and the prognosis of lung adenocarcinoma.Gene-set enrichment analysis (GSEA) was performed to screen differentially enriched pathways associated with the ABCC2 high expression phenotype.Results ABCC2 was overexpressed in lung adenocarcinoma tumor tissues compared with adjacent normal tissues.Kaplan-Meier survival analysis showed a significant relationship between ABCC2 mRNA expression and lung adenocarcinoma prognosis (HR=1.16,95% CI=1.09-1.95; P=0.010).Univariate and multivariate Cox regression analysis showed that ABCC2 mRNA expression was an independent risk factor affecting the survival of patients with lung adenocarcinoma.The results of GSEA suggested that ABCC2 may influence the development of lung adenocarcinoma by regulating the metabolism of targeted drug the treatment.Conclusions ABCC2 overexpression can significantly increase the risk of death in patients with lung adenocarcinoma,ABCC2 may be a potential molecular marker for poor prognosis in lung adenocarcinoma.

目的 分析ABCB1基因G2677T、C3435T位点在我国汉族血脂异常人群的分布特征;探讨ABCB1基因G2677T和C3435T多态性与阿托伐他汀降脂疗效之间的关系。方法 依据中国成人血脂异常防治指南判断标准,在中国汉族人群中收集205例受试者,抽取其外周血液样本,利用聚合酶链式反应-限制性片段长度多态分析(PCR-RFLP)技术对受试者ABCB1进行基因分型,同时在阿托伐他汀治疗3个月前后检测总胆固醇(TC)、甘油三酯(TG)、低密度脂蛋白胆固醇(LDL-C)、高密度脂蛋白胆固醇(HDL-C)血脂水平,将205例患者治疗后4项指标恢复正常分为A组,治疗后4项指标仍有一项及一项以上异常分为B组,来分析G2677T和C3435T基因多态性与阿托伐他汀降脂疗效的关系,以及G2677T和C3435T等位基因的分布特征。结果 205例患者中G2677T位点GG型、GT型、TT型基因频率分别为19.51%、42.44%、38.05%;C3435T位点CC型、CT型、TT型基因频率分别为34.63%、49.76%、15.61%。G2677T位点A组与B组等位基因突变率为58.46%与60.67%,A组GG型、GT型、TT型基因频率分别为23.08%、36.92%、40.00%,B组GG型、GT型、TT型基因频率分别为13.33%、52.00%、34.67%;C3435T位点A组与B组等位基因突变率为40.77%和40.00%,A组CC型、CT型、TT型基因频率分别为34.62%、 49.23%、16.15%,B组CC型、CT型、TT型基因频率分别为34.67%、50.67%、14.66%;ABCB1 基因G2677T、C3435T位点基因型在A组和B组中分布相同,无差异(P＞0.05)。205例患者中,用药前ABCB1基因G2677T位点TT型血浆TC、LDL-C水平高于GT型(P＜0.05)。用药后ABCB1基因G2677T位点GT型血浆TC、HDL-C、LDL-C水平低于GG型与TT型(P＜0.05);用药后ABCB1基因C3435T位点TT型血浆TC水平低于CC与CT型(P＜0.05),而CC型血浆LDL-C水平高于TT型(P＜0.05)。结论 ABCB1基因G2677T、C3435T位点多态性与血浆血脂水平有关,但ABCB1基因G2677T、C3435T位点多态性可能与阿托伐他汀3个月降脂疗效无关。