维生素D受体及其基因多态性与鼻咽癌的关联

Association of vitamin D receptor and its genetic polymorphisms with nasopharyngeal carcinoma

目的:探讨维生素D受体(VDR)及其基因多态性与鼻咽癌的关联。方法:采用荧光定量PCR检测48例鼻咽癌患者(鼻咽癌组)和48例对照者(对照组)外周血单个核细胞中的VDR mRNA。运用TaqMan-MGB荧光探针PCR法检测所有研究对象的FokI和ApaI位点基因型。结果:鼻咽癌组VDR mRNA△Ct值为9.32±0.91,对照组为7.31±1.04,鼻咽癌组VDR mRNA表达量显著低于对照组(t=10.08,P<0.01)。采用多因素Logistic回归分析,结果显示FokI点Ff基因型在鼻咽癌组中的分布显著高于对照组(调整OR=1.97,95%CI=1.33~2.91)。未发现ApaI位点各基因型在对照组和鼻咽癌组中分布存在差异。进一步采用单倍型分析,结果显示,与fa单倍型相比,Fa单倍型在对照组中的分布显著高于鼻咽癌组(调整OR=0.65,95%CI=0.48~0.87)。2组FokI位点不同基因型中VDR mRNA表达水平差异有统计学意义(F=194.5,P<0.01)。结论:VDR基因遗传变异与鼻咽癌有密切关联。

Objective：To investigate the gene expression and polymorphisms of vitamin D receptor（VDR）in nasopharyngeal carcinoma.Method：The expression of VDR mRNA was detected by fluorescent quantitative PCR in PBMC from 48 patients with nasopharyngeal carcinoma and 48 controls.The FokI and ApaI loci of all subjects were detected by TaqMan-MGB fluorescent probe PCR.Result：The VDR mRNA △Ct value was 9.32±0.91 and7.31±1.04 in nasopharyngeal carcinoma patients and controls,respectively.Using multivariate Logistic regression analysis,the results showed that the distribution of FokI point Ff genotype in the case group was significantly higher than that in the control group（adjusted OR=1.97,95%CI=1.33-2.91）.No difference was found between the control group and the patient group at ApaI loci.Further haplotype analysis was used to find that compared with fa haplotypes,the distribution of FokI Ff genotype in the case group was significantly higher than that in the healthy control group（adjusted OR=0.65,95%CI=0.48-0.87）.There were significant differences in the gene expression level of VDR among the patients with the different genotypes of FokI loci（F=194.5,P〈0.01）.Conclusion：Genetic variants of the VDR gene are closely associated with nasopharyngeal carcinoma.