MxA基因多态性与慢性乙肝患者IFNα应答情况关联研究
时韦美1，伍晓盼1，朱席琳1，李卓2，李辉3，刘英1
基金项目：高等学校博士学科点专项科研基金（20101106110021） 作者简介：时韦美（1990-），女，硕士，多基因疾病遗传易感性和药物遗传学研究 通信联系人：刘英（1961-），女，研究员，多基因疾病遗传易感性和药物遗传学研究；单基因疾病致病基因的定位克隆.

（1. 北京协和医学院基础学院生物化学与分子生物学系，北京 100005；2. 首都医科大学附属北京佑安医院，北京 100005； 3. 北京协和医学院基础学院流行病学系，北京 100005）
摘要：目的：探究MxA基因14个SNP位点（rs2838035，rs17000959，rs467639，rs7509964，rs13050928，rs458255，rs469073，rs469083，rs1050008，rs2075807，rs2238720，rs1557372，rs1557370，rs8133682）与慢性乙肝患者干扰素α个体疗效之间是否存在相关性。方法：收集北京佑安医院就诊接受IFNα治疗的254例（男性210例，女性44例）中国汉族原发性慢性乙肝患者的血样及临床资料，提取DNA，并进行基因分型。结果：MxA基因rs469083等位基因频率及基因型分布在干扰素α应答组与无应答组间有统计学意义（P分别为0.05和0.005，OR=1.50，95%CI=0.99-2.27）。 单倍型T-T-A-A-A-G-G-C-G-G-G-C-G-C单倍型在应答组高于无应答组（12.4% vs. 7.4%，P=0.07，OR=1.95，95%CI=0.93-4.08）。结论：MxA基因rs469083位点与慢性乙肝患者干扰素α个体疗效相关，携带单倍型T-T-A-A-A-G-G-C-G-G-G-C-G-C的个体可能更易获得干扰素α应答。
关键词：慢性乙肝；MxA；SNP；干扰素α
中图分类号：R394.3 20
MxA gene polymorphisms with response to IFNα in chronic hepatitis B patients
SHI Weimei1, WU Xiaopan1, ZHU Xilin1, LI Zhuo2, LI Hui3, LIU Ying1
(1. National Laboratory of Medical Molecular Biology,Institute of Basic Medical 25 Sciendes,Chinese Academy of Medical Sciences,School of Basic Medicine,Peking Union Medical College,Beijing 100005; 2. Department of Infectious Disease,Affiliated Youan University of Medical Science,Beijing 100005; 3. Department of Epidemiology,Institute of Basic Medical Sciendes,Chinese Academy of Medical 30 Sciences,School of Basic Medicine,Peking Union Medical College,Beijing 100005)
Abstract: Objective: We aimed to evaluate the correlation of 14 SNPs (rs2838035, rs17000959, rs467639, rs7509964, rs13050928, rs458255, rs469073, rs469083, rs1050008, rs2075807, rs2238720, rs1557372, rs1557370, rs8133682) in MxA gene with the individual efficacy of IFNα therapy in chronic hepatitis B patients. Methods: We collected the peripheral blood samples and clinical characteristics of 254 chronic hepatitis B patients received IFNα therapy(male 210,female 44). Then genomic DNA was extracted and the genotyping of MxA 14 SNPs was performed. Results: There was significant difference with the SNP rs469083 in MxA and the response state of IFNα, in both the single allele frequency and genotype distribution (p is respectively 0.05 and 0.005, OR=1.50, 95%CI=0.99-2.27). The frequency of the T-T-A-A-A-G-G-C-G-G-G-C-G-C haplotype in the response group was higher than that in the non-response group(12.4% vs. 7.4%, P=0.07, OR=1.95, 95%CI=0.93-4.08). Conclusions: The present nested case-control study indicated that the SNP rs469083 in MxA was significantly associated with the individual efficacy of IFNα therapy in chronic hepatitis B patients. The T-T-A-A-A-G-G-C-G-G-G-C-G-C haplotype carriers may be more easier to achieve IFNα response.

Key words: chronic hepatitis B; MxA; SNP; IFNα