新疆伊犁地区食管鳞癌与儿茶酚-O-甲基转移酶基因Val158Met多态性的关联分析  

The association analysis of catechol-O-methyltransferase gene Val158Met polymorphisms with esophageal squamous cell carcinoma in Yili Prefecture of Xinjiang

作　　者：黄丛改[1] 刘涛[1] 吕国栋[1] 刘清[1] 冯军国[1] 郑树涛[1] 伊力亚尔·夏合丁 卢晓梅[1] 

机构地区：[1]新疆医科大学第一附属医院医学研究中心,乌鲁木齐830054 [2]新疆维吾尔自治区食管癌研究所

出　　处：《中华消化杂志》2011年第1期6-10,共5页Chinese Journal of Digestion

基　　金：国家自然科学基金资助项目（30760223、30860097）

摘　　要：目的探讨儿茶酚-O-甲基转移酶（COMT）基因缬氨酸（Val）158甲硫氨酸（Met）（G—A转换）多态性在新疆伊犁地区人群中的分布及与食管鳞癌（ESCC）的关系。方法采用以医院为基础的病例对照研究方法，研究对象共622名，包括214例ESCC患者，408名年龄、性别、民族相匹配的正常对照。以聚合酶链反应-限制性片段长度多态性方法分析COMT基因G／A多态性。结果622名受试者COMT基因型频率分布依次为GG型占47．3％，GA型占42．3％，AA型占10．4%；等位基因G为68．4％，A为31．6％。食管癌组与正常对照组COMT基因型及等位基因频率分布差异无统计学意义（P〉0．05）。分层分析显示．年龄≤60岁的食管癌组与正常对照组之间COMT基因型（x^2=6．101）和等位基因频率（x^2=4．493）差异有统计学意义（P值均〈0．05）；哈萨克族、维吾尔族、汉族ESCC组间等位基因频率比较差异有统计学意义（x^2=6．671，P〈0．05）；三个民族正常对照组间COMT基因型（x^2=13．567）及等位基因频率（x^2=11．321）分布比较差异均有统计学意义（P值均〈0．05）。将年龄及性别校正后，新疆伊犁地区食管癌组与正常对照组COMTVai158Met多态性在哈萨克族、维吾尔族、汉族之间差异均无统计学意义。结论COMT基因Vai158Met单核苷酸多态可能不是新疆伊犁地区食管鳞癌危险性的遗传标志。Objective To explore the relationship between polymorphism of catechol O- methyltransferase （COMT） gene valine （Val） 158 methionine （Met） （G to A transition）and the distribution in population and esophageal squamous cell carcinoma （ESCC） in Yili prefecture of Xiniiang. Methods A hospi：aL Based ease-control study was adopted, a total of B22 suhSeets, which including 214 ESCC patients and 408 age, gender and ethnicity-matched normal control individuals. The polymorphism of COMT gene G to A transition was analyzed with PCR-restriction fragment length polymorphism approaches. Results The COMT genotype frequencies in 622 subjects in Yili prefecture were GG genotype accounted for 47.3%, GA type for 42.3%and AA type for 10.4%, G allele was 68.4% and A allele was 31.6%. There was no statistical difference in the COMT genotype and frequencies of allele distribution between ESCC group and control group. Furthermore, stratified analysis indicated that there was statistical difference between ESCC group and control group in subjects less than 60 years old. There was statistical difference in the allele distribution among Kazak, Uygur and Han ESCC groups. The COMT genotype and frequency of allele distribution among normal control groups of the three ethnic groups were statistically different. After corrected age and gender, there was no statistical difference in COMT Val158Met polymorphisms among Kazakh, Uygur and Han ethnic groups in both ESCC and control groups in Yili Prefecture of Xinjiang. Conclusion COMT gene Val158Met single nucleotide polymorphism may not be the genetic markers of ESCC risk in Yili Prefecture of Xinjiang.

关 键 词：食管肿瘤 肿瘤 鳞状细胞 儿茶酚-O-甲基转移酶 基因型 多态现象 遗传 新疆 [维吾尔自治区] 

分 类 号：R735.1[医药卫生—肿瘤]