龚婷婷　吴继周　梁惠萍　卢庭婷　蒋莉　吴健林　胡蝶飞　宁秋悦　庞裕

【摘要】 目的：探讨HLA-DQB1等位基因与广西壮族人群肝癌家族聚集性的相关性，为寻找广西壮族人群肝癌的遗传易感基因或拮抗基因提供线索。方法：采取性别、年龄±5岁配对方法，在广西壮族肝癌高发区选取肝癌高发家族成员、无癌家族成员各48例作为研究对象，采集研究对象外周血并提取全血DNA，应用PCR-SSP方法对HLA-DQB1等位基因进行检测。结果：（1）HLA-DQB1*02/06/07等位基因在肝癌高发家族组和无癌家族组的基因频率分别是8.33%和33.33%、33.33%和8.33%、25.00%和50.00%，差异均有统计学意义（P<0.05）；HLA-DQB1*04/05/08/09分别是0和8.33%、50.00%和41.67%、25.00%和16.67%、8.33%和8.33%，差异均无统计学意义（P>0.05）；（2）HLA-DQB1*02/04/05/06/07/08/09等位基因在乙型肝炎病毒感染组（HBsAg阳性组）及非乙型肝炎病毒感染组（HBsAg阴性组）中的基因频率分别为15.79%和22.08%、0和5.19%、42.11%和46.75%、26.32%和19.48%、47.37%和35.06%、21.05%和20.78%、5.26%和9.09%，差异均无统计学意义（P>0.05）。（3）HLA-DQB1各等位基因与性别无明显相关（P>0.05）。结论：（1）HLA-DQB1*02/07等位基因可能是广西壮族人群肝癌发生的拮抗基因，而HLA-DQB1*06等位基因可能为其易感基因；（2）HLA-DQB1各等位基因可能与广西壮族肝癌高发区乙肝病毒的感染及性别无明显关联。

【关键词】 HLA-DQB1； 等位基因； 原发性肝癌； 家族聚集性

Relationship between HLA-DQB1 Allele and Familial Clustering of Hepatocellular Carcinoma in Guangxi Zhuang People/GONG Ting-ting，WU Ji-zhou，LIANG Hui-ping，et al.//Medical Innovation of China，2016，13（09）：001-004

【Abstract】 Objective：To investigate the relationship between HLA-DQB1 allele and familial clustering of hepatocellular carcinoma（HCC） to provide some evidence for the seeking susceptibility gene or resistant gene of HCC in Guangxi Zhuang people，China.Method：Using gender， age 5 year old matching method，from high incidence of hepatocellular carcinoma in Guangxi Zhuang，48 members whose families with two or more than two HCC patients were selected as the experimental group，and 48 members from families without any cancer were selected as the control group.Peripheral blood samples were collected to extract DNA for testing HLA-DQB1 alleles by PCR-SSP.Result：（1）The gene frequencies of alleles HLA-DQB1*02/06/07 in the experimental group and the control group were 8.33% and 33.33% （ 字2=9.095，P=0.003），33.33% and 8.33%（ 字2=9.095，P=0.003），25.00% and 50.00% （ 字2=6.400，P=0.011） respectively；HLA-DQB1*04/05/08/09 were 0 and 8.33%，50.00% and 41.67%，25.00% and 16.67%，8.33% and 8.33% respectively（P>0.05）.（2）The gene frequencies of alleles HLA-DQB1*02/04/05/06/07/08/09 in the HBsAg positive and the HBsAg negative group were 15.79% and 22.08%，0 and 5.19%，42.11% and 46.75%，26.32% and 19.48%，47.37% and 35.06%， 21.05% and 20.78%，5.26% and 9.09% respectively（P>0.05）.（3）There were no significant correlation between LA-DQB1 alleles and sex（P>0.05）.Conclusion：（1）HLA-DQB1*02/07 may to be the antagonist genes of hepatocellular carcinoma of Guangxi Zhuang，and HLA-DQB1*06 may be susceptibility gene for its；（2）HLA-DQB1 allele may have no significant association with hepatitis B virus infection and sex in the high incidence area of Guangxi Zhuang.

【Key words】 HLA-DQB1； Allele； Hepatocellular carcinoma； Familial clustering

First-authors address：The First Affiliated Hospital of Guangxi Medical University，Nanning 530021，China

doi：10.3969/j.issn.1674-4985.2016.09.001

原发性肝癌（hepatocellular carcinoma，HCC）的死亡率在各种恶性肿瘤中位居第三位，我国肝癌患者数量居世界首位，并有继续升高的趋势[1-3]。既往研究发现，广西是我国乙肝病毒型肝炎和肝癌的高发区，并且在肝癌高发区中存在明显的家族聚集现象[4-6]。肝癌的发病机制尚不明确，但近年来的研究表明，原发性肝癌的发病可能与环境因素、遗传因素及免疫功能等有一定的联系[7]。人类白细胞抗原（HLA）作为个体组织细胞的遗传标志之一，在抗原的递呈与识别、调节免疫应答的强弱等方面具有关键性的作用[8]。笔者前期的……