南方汉族肝癌患者KIR/HLA等位基因的分布特征  

Distribution of KIR/HLA alleles among ethnic Han Chinese patients with hepatocellular carcinoma from southern China

作　　者：高素青[1] 焦佰海 洪文旭[1] 蔡闯闯 钟艳平[1] 全湛柔 陈浩 徐筠娉[1] Gao Suqing;Jiao Baihai;Hong Wenxu;Cai Chuangchuang;Zhong Yanping;Quan Zhanrou;Chen Hao;Xu Yunping(Institute of Blood Transfusion Medicine,Shenzhen Blood Center,Shenzhen,Guangdong 518035,China)

机构地区：[1]深圳市血液中心输血医学研究所,广东518035

出　　处：《中华医学遗传学杂志》2019年第5期439-442,共4页Chinese Journal of Medical Genetics

基　　金：深圳市科技计划项目(JCYJ20160425100217087,JCYJ20160427172335974,JCYJ20170412150719814).

摘　　要：目的 探讨南方汉族肝癌(hepato cellular carcinoma,HCC)合并乙肝病毒(hepatitis B virus,HBV)感染患者的杀伤细胞免疫球蛋白受体(killer cell immunoglobulin-like receptor,KIR)和人类白细胞抗原(human leukocyte antigen,HLA) HLA-C等位基因多态性分布特征.方法 用基于Illumina平台GenDx NGSgo分型方法对95例南方汉族HCC患者(病例组)和1 71名南方汉族正常个体(对照组)进行HLA-C基因分型,KIR基因分型用聚合酶链反应探针法(polymerase chain reaction sequence-specific oligonucleotides,PCR-SSO),对HLA-C位点的等位基因和KIR基因及组合基因型进行统计学分析.结果 两组均检出16个KIR基因2DL2、2DS2、2DS3、2DS5、3DS1、2DS1、2DL5、2DS4、3DL1、3DP1、2DL3、2DP1、3DL3、2DL1、3DL2、2DL4,其中病例组KIR2DL3及KIR2DL3/HLA-C1C2组合基因型基因频率低于对照组,差异有统计学意义(0.9368 vs.0.9883,x2>3.84,P<0.05,RR=0.1;0.0112 vs.0.2663,x2>3.84,P<0.05,RR=0.03).病例组HLA-C2C2基因频率低于对照组,差异有统计学意义(0.0316 vs.0.2690,P<0.05,RR=0.09).病例组HLA-C1C2基因频率高于对照组,差异有统计学意义(0.2316 vs.0.0058,P<0.05,RR=51.23).结论 KIR2DL3等位基因可能与携带HBV阳性患者HCC呈负相关性.携带不同KIR/HLA组合基因型HBV阳性的人群在发展为HCC患者可能存在个体差异.Objective To assess the association of KIR/HLA alleles with hepatocellular carcinoma(HCC)and hepatitis B virus(HBV)infection among ethnic Han Chinese patients from southern China.Methods For 95 patients with HCC and 171 healthy controls,the genotype of HLA-C alleles was determined with a PCR sequence-specific oligonucleotides typing method on an Illumina GenDx NGSgo platform.Genotypes comprised of HLA-C and KIR gene alleles were also subjected to statistical analysis.Results In total 16 K IR genes(2DL2,2DS2,2DS3,2DS5,3DS1,2DS1,2DL5,2DS4,3DL1,3DP1,2DL3,2DP1,3DL3,2DL1,3DL2 and 2DL4)were discovered in the two groups.The frequencies of KIR2DL3 alleles and combinational genotypes of KIR2DL3/HLA-C1C2 were significantly lower in the patient group compared with the controls(0.9368 vs.0.9883,x2>3.84;P<0.05,OR=0.1;0.0112 vs.0.2663,x2>3.84;P<0.05,RR=0.03).The frequency of HLA-C2C2 genotype of the patient group was significantly lower than that of the controls(0.0316 vs.0.2690,P<0.05,RR=0.09),while the frequency of HLA-C1C2 genotype was significantly higher than that of the controls(0.2316 vs.0.0058,P<0.05,RR=51.23).Conclusion Above results suggested that the KIR2DL3 allele is associated with lower risk for HCC.There may be individual difference in patients with HCC and HBV infection but various combinations of KIR/HLA alleles.

关 键 词：人类白细胞抗原 杀伤细胞免疫球蛋白受体 肝癌 乙肝病毒 二代测序 

分 类 号：R73[医药卫生—肿瘤]