【摘要】：目的探討中國(guó)福建地區(qū)漢族人群PI3K/AKT/mTOR信號(hào)通路基因單核苷酸多態(tài)性(single nucleotide polymorphism,SNP)與胃癌遺傳易感性的關(guān)系。方法選取組織學(xué)確診的胃癌323例及年齡和性別等頻數(shù)匹配的對(duì)照健康體檢人493例,采用PCR-連接酶檢測(cè)反應(yīng)(ligase detection reaction,PCR-LDR)法進(jìn)行PI3K rs7651265 AG、mTOR rs7212142 GA及AKT rs1130214 GT多態(tài)性檢測(cè),應(yīng)用非條件Logistic回歸分析評(píng)估不同基因型與胃癌發(fā)病風(fēng)險(xiǎn)及病理特征的關(guān)系。采用似然比檢驗(yàn)分析PI3K和mTOR基因多態(tài)性之間的交互作用。結(jié)果 PI3K基因rs7651265攜帶G等位基因(GG+GA)患者發(fā)生胃癌的風(fēng)險(xiǎn)是攜帶AA基因型的4.93倍(P0.05)。而該位點(diǎn)攜帶AA基因型的患者發(fā)生腫瘤浸潤(rùn)的風(fēng)險(xiǎn)是攜帶GG+AG基因型患者的3.5倍(P0.05)。mTOR rs7212142攜帶GG基因型的患者發(fā)生淋巴結(jié)轉(zhuǎn)移的風(fēng)險(xiǎn)是攜帶AA+AG基因型的1.67倍(P0.05)。采用似然比檢驗(yàn)分析表明,PI3K rs7651265 AG和mTOR rs7212142 GA基因多態(tài)性間存在明顯交互作用。與攜帶野生型純合子PI3K AA和mTOR GG基因型的個(gè)體相比,位點(diǎn)發(fā)生變異的PI3K(AG+GG)~*mTOR(GG)、PI3K(AG+GG)~*mTOR(AG+AA)增加個(gè)體患胃癌的風(fēng)險(xiǎn),OR值分別為5.71(95%CI:3.50~9.34,P0.05)和6.41(95%CI:4.13~9.90,P0.05)。結(jié)論 PI3K-AKT-mTOR信號(hào)通路基因多態(tài)性與胃癌的發(fā)生及侵襲轉(zhuǎn)移密切相關(guān),有可能成為胃癌預(yù)后的新分子指標(biāo)。
[Abstract]:Objective to investigate the relationship between single nucleotide polymorphisms (single nucleotide polymorphism,SNP) of PI3K/AKT/mTOR signaling pathway gene and genetic susceptibility of gastric cancer in Fujian Han population. Methods the polymorphism of PI3K rs7651265 AG,mTOR rs7212142 GA and AKT rs1130214 GT were detected by PCR- ligase assay (ligase detection reaction,PCR-LDR) in 323 cases of histologically diagnosed gastric cancer and 493 healthy controls with matched age and sex. Non-conditional Logistic regression analysis was used to evaluate the relationship between different genotypes and the risk and pathological features of gastric cancer. The interaction between PI3K and mTOR gene polymorphism was analyzed by likelihood ratio test. Results the risk of gastric cancer in patients with PI3K rs7651265 carrying G allele (GG GA) was 4.93 times higher than that with AA genotype (P0.05). The risk of tumor invasion in patients with AA genotype was 3.5 times higher than that in patients with GG AG genotype (P0.05). The risk of lymph node metastasis in patients with GG genotype was 1.67 times higher than that in patients with GG genotype (P0.05). The analysis of likelihood ratio test showed that there was obvious interaction between PI3K rs7651265 AG and mTOR rs7212142 GA gene polymorphism. Compared with the individuals with wild type homozygous PI3K AA and mTOR GG genotypes, PI3K (AG GG) * mTOR (GG), PI3K (AG GG) * mTOR (AG AA) with variant loci increased the risk of gastric cancer, with OR values of 5.71 (95 CI: 3.50) and 6.41 (95CI: 4.130.9.90), respectively. Conclusion Polymorphism of PI3K-AKT-mTOR signaling pathway is closely related to the occurrence, invasion and metastasis of gastric cancer, which may be a new molecular marker for the prognosis of gastric cancer.
【作者單位】： 福建醫(yī)科大學(xué)教學(xué)醫(yī)院;福建省腫瘤醫(yī)院病理科;福建省腫瘤轉(zhuǎn)化重點(diǎn)實(shí)驗(yàn)室;
【基金】：國(guó)家臨床重點(diǎn)�？平ㄔO(shè)項(xiàng)目 福建省自然科學(xué)基金(2014J0101) 福建省衛(wèi)計(jì)委創(chuàng)新課題(2015-CX-7)、福建省衛(wèi)計(jì)委中青年骨干人才培養(yǎng)項(xiàng)目(2013-ZQN-JC-8、2015-ZQN-JC-7)
【分類號(hào)】：R735.2
，

本文編號(hào)：2275792