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【目的】探讨UGT2B17基因的缺失多态性与鼻咽癌发病的相关关系。【方法】利用基因特异性引物扩增的方法鉴定不同人群UGT2B17基因的缺失多态性,研究对象包括鼻咽癌高发区广东地区的170例鼻咽癌患者(96例血标本和74例组织标本)和96例健康对照(血标本),鼻咽癌低发区河南及山西的各96例健康对照(血标本),观察UGT2B17基因的缺失多态性在中国鼻咽癌高发区和低发区人群之间的差异,并通过在鼻咽癌高发区广东进行的病例对照研究,运用二分类logistic回归分析研究UGT2B17基因的缺失多态性与鼻咽癌危险性的相关关系。【结果】①UGT2B17基因的纯合缺失型(del/del)在中国不同地区人群中的分布频率均较高(广东健康人群,67.5%;广东鼻咽癌患者,62.9%;河南健康人群,58.2%;山西健康人群,66.3%),且相互之间没有显著性差异(P>0.05),但其远远高于非洲和高加索人群(约10%)。②UGT2B17的各基因型和鼻咽癌之间的危险性分析结果显示UGT2B17基因的各基因型均不会增加鼻咽癌发病的危险性(del/ins:OR=1.693,95%CI=0.636～4.503;del/del:OR=1.132,95%CI=0.490～2.616;del/del+del/ins:OR=1.253,95%CI=0.551～2.847)。【结论】①UGT2B17基因的缺失多态性可能与种族密切相关,②UGT2B17基因的缺失多态性与鼻咽癌的发病未见显著关联。
【Objective】 To investigate the relationship between the deletion polymorphism of UGT2B17 gene and the pathogenesis of nasopharyngeal carcinoma. 【Method】 The deletion polymorphism of UGT2B17 gene in different populations was identified by gene-specific primer amplification. The study included 170 cases of nasopharyngeal carcinoma patients (96 blood samples and 74 tissue samples from Guangdong) ) And 96 healthy controls (blood samples), 96 healthy controls (blood samples) of Henan and Shanxi in the low incidence area of nasopharyngeal carcinoma, and to observe the deletion polymorphism of UGT2B17 gene in high incidence area and low incidence area of Chinese nasopharyngeal carcinoma Population differences, and through case-control studies in Guangdong in the high incidence area of nasopharyngeal carcinoma, the use of binary logistic regression analysis UGT2B17 gene deletion polymorphisms and nasopharyngeal cancer risk. 【Results】 ① The homozygous deletion type of delt2B17 gene was found in different regions of China (67.5% in Guangdong, 62.9% in Guangdong, 58.2% in Henan) ; Shanxi healthy population, 66.3%), and there was no significant difference between them (P> 0.05), but it is much higher than that in Africa and Caucasians (about 10%). ②The genotypes of UGT2B17 and the risk analysis of nasopharyngeal carcinoma showed that the genotypes of UGT2B17 did not increase the risk of NPC (del / ins: OR = 1.693, 95% CI = 0.636-4.503 ; del / del: OR = 1.132, 95% CI = 0.490-2.616; del / del + del / ins: OR = 1.253, 95% CI = 0.551-2.847). 【Conclusion】 (1) The deletion polymorphism of UGT2B17 gene may be closely related to race. (2) The deletion polymorphism of UGT2B17 gene is not significantly associated with the incidence of NPC.