CDKN2A基因以及EB病毒A73基因多态性与鼻咽癌相关性研究
发布时间：2019-03-24 14:43
【摘要】：目的鼻咽癌(Nasopharyngeal Carcinoma,NPC)是我国头颈部恶性肿瘤之一,且具有较强的遗传易感性。本研究选择细胞周期依赖性激酶抑制基因(cyclin-dependent kinase inhibitor,CDKN2A),以及EB病毒感染时表达最广泛的BamH I A区右向转录物家族(BamH I A Rightward Transcripts, BARTs)主要成员之一A73基因为研究靶点,分别探讨CDKN2A以及EB病毒A73基因单核苷酸多态性(Single Nucleotide Polymorphisms, SNPs)与云南鼻咽癌发病风险的关系。同时探讨各基因型与鼻咽癌临床参数之间的关系。 方法随机抽取云南地区无血缘关系鼻咽癌患者95例和体检中心云南籍正常对照者100例,抽提外周血基因组DNA,应用TaqMan探针基因分型方法检测CDKN2A基因rs1412829多态性。采用巢式PCR法及测序方法,对51例云南籍鼻咽癌患者和52例云南籍健康对照进行EB病毒A73基因A157154C基因分型。 结果1CDKN2A基因G等位基因在NPC组和对照(NC)组中的分布频率分别为20%和9%,两组间比较差异有显著性(P=0.023)。G等位基因携带者患NPC的风险为A等位基因携带者的2.497倍。(OR=2.497,95%CI=1.107～5.632,P=0.031)。 2.NPC组与NC组CDKN2A基因的AA、AG及GG的基因型频率分布有显著统计学差异(P=0.031)。 3.NPC组CDKN2A基因多态性与病理分期Ⅳ期间有相关性,即含有突变为G等位基因较易出现在病程晚期的NPC患者中,差异有显著统计学意义(P0.001)。 4.EB病毒基因A73基因A157154C C等位基因频率在NPC组为96.1%,明显高于对照组的51.9%(P0.001)；NPC组CC基因型频率(96.1%)显著高于对照组(42.3%),差异有显著性(P0.001)。 5.EB病毒A73基因C等位基因携带者患NPC的风险为A等位基因携带者的22.685倍,其相对危险度(OR)为22.685,95%CI=7.772～66.217,差异具有显著统计学意义(P0.001)。 6.NPC组男性患者EB病毒A73基因CC基因型频率显著高于女性患者(73.2%vs.26.8%),差异具有显著性(P0.001)。 结论CDKN2A基因A157154C基因多态性中G等位基因可能是NPC的危险因索。该基因多态性与病理分期间存在相关性。可以认为含有突变为G等位基因较易出现在NPC病情发展的晚期,即病程的Ⅳ期。EB病毒A73基因A157154C基因多态性中CC基因型可能是NPC的危险因素。该基因多态性与性别间存在相关性,在男性患者中CC基因型频率73.2%显著高于女性患者的频率26.8%,这或许是NPC发病率男性显著高于女性的原因之一。
[Abstract]:Objective Nasopharyngeal carcinoma (Nasopharyngeal Carcinoma,NPC) is one of the malignant tumors of head and neck in China and has a strong genetic susceptibility. In this study, we selected cell cycle-dependent kinase inhibitor gene (cyclin-dependent kinase inhibitor,CDKN2A) and A73 gene, one of the leading members of (BamH I A Rightward Transcripts, BARTs) family, which is the most widely expressed right-sided transcript family of BamH I A region when infected with EBV, as the target of this study. To investigate the relationship between single nucleotide polymorphism (Single Nucleotide Polymorphisms, SNPs) of CDKN2A and EB virus A73 gene and the risk of nasopharyngeal carcinoma (NPC) in Yunnan. At the same time, the relationship between genotypes and clinical parameters of nasopharyngeal carcinoma (NPC) was studied. Methods 95 unrelated nasopharyngeal carcinoma (NPC) patients and 100 normal controls were randomly selected from Yunnan province. The genomic DNA, of peripheral blood was extracted and the rs1412829 polymorphism of CDKN2A gene was detected by TaqMan probe genotyping. The A157154C gene of EB virus A73 was genotyped in 51 patients with nasopharyngeal carcinoma of Yunan nationality and 52 healthy controls by nested PCR and sequencing. Results the frequency of G allele of 1CDKN2A gene in NPC group and control group was 20% and 9%, respectively. There was a significant difference between the two groups (P < 0. 023). The risk of NPC in G allele carriers was 2.497 times higher than that in A allele carriers (OR=2.497,95%CI=1.107~5.632,P=0.031). The genotype frequencies of CDKN2A gene AA,AG and GG were significantly different between 2.NPC group and NC group (P < 0. 031). There was a significant correlation between CDKN2A gene polymorphism and pathological stage 鈪，
本文编号：2446418
[Abstract]:Objective Nasopharyngeal carcinoma (Nasopharyngeal Carcinoma,NPC) is one of the malignant tumors of head and neck in China and has a strong genetic susceptibility. In this study, we selected cell cycle-dependent kinase inhibitor gene (cyclin-dependent kinase inhibitor,CDKN2A) and A73 gene, one of the leading members of (BamH I A Rightward Transcripts, BARTs) family, which is the most widely expressed right-sided transcript family of BamH I A region when infected with EBV, as the target of this study. To investigate the relationship between single nucleotide polymorphism (Single Nucleotide Polymorphisms, SNPs) of CDKN2A and EB virus A73 gene and the risk of nasopharyngeal carcinoma (NPC) in Yunnan. At the same time, the relationship between genotypes and clinical parameters of nasopharyngeal carcinoma (NPC) was studied. Methods 95 unrelated nasopharyngeal carcinoma (NPC) patients and 100 normal controls were randomly selected from Yunnan province. The genomic DNA, of peripheral blood was extracted and the rs1412829 polymorphism of CDKN2A gene was detected by TaqMan probe genotyping. The A157154C gene of EB virus A73 was genotyped in 51 patients with nasopharyngeal carcinoma of Yunan nationality and 52 healthy controls by nested PCR and sequencing. Results the frequency of G allele of 1CDKN2A gene in NPC group and control group was 20% and 9%, respectively. There was a significant difference between the two groups (P < 0. 023). The risk of NPC in G allele carriers was 2.497 times higher than that in A allele carriers (OR=2.497,95%CI=1.107~5.632,P=0.031). The genotype frequencies of CDKN2A gene AA,AG and GG were significantly different between 2.NPC group and NC group (P < 0. 031). There was a significant correlation between CDKN2A gene polymorphism and pathological stage 鈪，
本文编号：2446418
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