许秀雯,李莹,童绍勇,姚宇峰,俞建昆,史荔,孙明波
XU Xiuwen,LI Ying,TONG Shaoyong,YAO Yufeng,YU Jiankun,SHI Li,SUN Mingbo

• 1:中国医学科学院北京协和医学院医学生物学研究所云南省重大传染病疫苗研发重点实验室

摘要(Abstract)：

目的:探讨白细胞介素2(IL-2)以及肿瘤坏死因子-α(TNF-α)基因启动子SNP位点与丙型肝炎病毒(HCV)慢性感染的相关性。方法:选择云南地区汉族人群HCV慢性感染患者380例,健康体检人群367例,采用Taq Man探针基因分型方法对IL-2基因启动子SNPrs2069762、rs2069763和rs4833248,以及TNF-α基因启动子SNPrs1800629、rs3093668和rs3093726进行基因分型,并构建单倍型,统计IL-2和TNF-α多态性位点的等位基因频率与基因型频率、单倍型频率,分析SNPs及单倍型与HCV慢性感染的相关性。结果:IL-2基因启动子中,病例组和对照组相比,SNPrs2069762基因型差异有统计学意义(P<0.05,OR=0.864,95%CI为0.700~1.066),病例组CC基因型频率高于对照组(P<0.05),rs2069763等位基因差异具有统计学意义(P<0.05,OR=1.234,95%CI为1.007~1.513),病例组等位基因G频率高于对照组(P<0.05),rs4833248基因型和等位基因频率差异无统计学意义(P>0.05),rs2069762/rs2069763/rs4833248单倍型ATG差异有统计学意义(P<0.05,OR=0.812,95%CI为0.662~0.996),病例组单倍型ATG频率低于对照组(P<0.05);TNF-α基因启动子SNPrs1800629、rs3093668和rs3093726基因型、等位基因型和单倍型频率,在病例组和对照组中差异无统计学意义(P>0.05)。结论:在云南汉族群体中,IL-2基因启动子SNPrs2069762 CC基因型和rs2069763 G等位基因可能是HCV慢性感染的易感因素,rs2069762/rs2069763/rs4833248单倍型ATG可能是HCV慢性感染的保护性因素;TNF-α基因启动子SNPrs1800629、rs3093668和rs3093726与HCV慢性感染没有相关性。
Objective: To investigate the correlation among HCV chronic infection and SNPs in IL-2and TNF-α gene promoter. Method: A total of 380 patients with HCV chronic infection and 367 Healthy controls of Yunnan Han people were selected. Taq Man probe genotyping was applied to detect the IL-2 gene promoter SNP rs2069762,rs2069763 and rs4833248,coupled with TNF-α gene promoter SNP rs1800629,rs3093668,rs3093726,then constructing haplotype. Estimating allele frequency and genotype frequency,and haplotype frequency of IL-2 and TNF-αSNP. Then analyzing correlation between SNPs and haplotype AGT and HCV chronic infection. Results: Concerning IL-2 gene promoter of infection group and control group,SNP rs2069762 genotypic variation showed significant difference( P < 0. 05,OR = 0. 864,95% CI: 0. 700 ~ 1. 066),and allele frequency of genotype CC in HCV chronic infection patients was higher than that of control group( P < 0. 05); the rs2069763 allele showed a significant difference( P < 0. 05,OR = 1. 234,95% CI1. 007 ~ 1. 513) and the allele G frequency of infection group was higher than that of control group( P < 0. 05); the genotype and allele frequency of rs4833248 displayed no significant difference( P > 0. 05); rs2069762 / rs2069763 /rs4833248 haplotype ATG showed significant difference( P < 0. 05,OR = 0. 812,95% CI: 0. 662 ~0. 996) and haplotype ATG frequency of infection group was lower than control group( P < 0. 05).Genotype,allele and haplotype frequency of rs1800629,rs3093668,rs3093726 in TNF-α had no statistical significance in both groups( P > 0. 05). Conclusions: For Han people in Yunnan province,the rs2069762 genotype CC and rs2069763 allele G in IL-2 are potential predisposing factors of HCV chronic infection. rs2069762 / rs2069763 / rs4833248 haplotype ATG might play a protective role in HCV chronic infection. SNP rs1800629,rs3093668,rs3093726 in TNF-α gene promoter show no correlation with HCV chronic infection.

关键词(KeyWords)： 云南;肝炎病毒,丙型;感染;单核苷酸多态性;白细胞介素2;肿瘤坏死因子α
Yunnan;hepatitis C virus;infection;single nucleotide polymorphism;interlukin-2;tumor necrosis factor-α

Abstract:

Keywords:

基金项目(Foundation): 国家自然科学基金资助项目(81160197);; 吴阶平医学基金项目(300.6750.13395)

作者(Author): 许秀雯,李莹,童绍勇,姚宇峰,俞建昆,史荔,孙明波
XU Xiuwen,LI Ying,TONG Shaoyong,YAO Yufeng,YU Jiankun,SHI Li,SUN Mingbo

DOI: 10.19367/j.cnki.1000-2707.2015.06.006

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