摘要
目的探讨胆固醇7α－羟化酶（CYP7A1）基因多态性与福建汉族人HBV感染后不同临床结局之间的相关性，为了解HBV相关疾病的发生发展机制奠定基础。方法病例对照研究。收集2015年5月至2016年6月在福建医科大附属第一医院肝病中心未经抗病毒治疗的HBV持续感染者586例，乙型肝炎康复者225例（年龄在35～55岁之间）。未经抗病毒治疗的HBV持续感染组包括慢性乙型肝炎患者亚组（246例）、乙型肝炎相关性肝硬化亚组（177例）和乙肝相关性肝癌亚组（163例）。采用改良的多重高温连接酶检测反应技术（iMLDR）对CYP7A1基因的rs3824260、rs4738687和rs8192871位点进行检测，在HBV持续感染组、乙型肝炎康复组以及慢性乙型肝炎亚组、肝硬化亚组和肝癌亚组之间进行两两比较，校正年龄性别因素运用二分类Logistic回归模型和卡方检验分析基因分型结果。结果rs3824260位点各基因型在各组间的分布差异无统计学意义（χ2＝1.565，P＝0.459），然而在性别分层后，男性分组中乙型肝炎康复组的C等位基因频率明显高于HBV持续感染组（χ2＝4.365，P＝0.037），女性分组中，相较于非肝癌组（慢乙肝亚组和肝硬化亚组），rs3824260 CC＋CT等位基因更多见于肝癌亚组患者（χ2＝5.768，P＝0.012；χ2＝10.130，P＝0.001）；相较于肝癌组，rs4738687的突变型GG基因型频率在非肝癌组中显著增高（χ2＝4.403，P＝0.041；χ2＝6.940，P＝0.009），性别分层结果显示男性分组的rs4738687的各基因型在HBV持续感染组间的分布差异有统计学意义（χ2＝10.697，P＝0.030），但在女性分组中该位点基因型分布差异无统计学意义（χ2＝4.627，P＝0.329）；rs8192871位点的各基因型频率及等位基因频率在各组间的分布差异均无统计学意义（χ2＝0.489，P＝0.792），性别分层后差异也无统计学意义（χ2＝1.282，P＝0.526；χ2＝1.565，
ObjectiveThe study aims to investigate the associationbetweencholesterol 7α-hydroxylase （CYP7A1） gene polymorphism and different clinical outcomes after Hepatitis B virus （HBV） infection in Fujian Han population and lay a foundation for understanding the mechanisms of genesis and development of HBV-related diseases.MethodsCase-control study was conducted.586 patients of HBV persistent infection without antiviral therapy and 225 HBV rehabilitation patients（35-55 years old） were collected from May 2015 to June 2016 in the Liverish Center of First Clinical College of Fujian Medical University.The group of HBV persistent infection without antiviral therapy included 246 patients with chronic hepatitis B, 177 patients with hepatitis B-related cirrhosis, and 163 patients with hepatitis B-related liver cancer.The rs3824260, rs4738687and rs8192871 loci of CYP7A1 gene were detected by improved multiple ligase detection reaction （iMLDR）. Logistic regression analysis and chi-square test were used to analyze the genotyping results.ResultsThree SNPs （single nucleotide polymorphisms） of CYP7A1 gene were selected and compared between HBV persistent infection group and HBV rehabilitation group and between chronic hepatitis B subgroup, liver cirrhosis subgroup and liver cancer subgroup. After adjustment for factors including age andgender, there was no significant difference in the distribution of rs3824260 genotype among the groups（χ2=1.565, P=0.459）, however, the frequency of allele C in HBV rehabilitation group was significantly higher than in HBV persistent in fectiongroup for men（χ2=4.365, P=0.037）, whereas the frequency of rs3824260 CC and CT was more likely to be observed in liver cancer group than in non-liver cancer group （chronic hepatitis B subgroup and liver cirrhosis subgroup） for women （χ2=5.768, P=0.012; χ2=10.130, P=0.001）. The frequency of rs4738687 GG genotype was more likely to be observed in non-liver cancer group than in liver cancer group （χ2=4.403, P=0.041; χ2=6.9
出处
《中华检验医学杂志》
CAS
CSCD
北大核心
2018年第2期155-164,共10页
Chinese Journal of Laboratory Medicine
基金
国家自然科学基金资助项目（81572067、81672101）
福建省卫生计生委青年科研课题（2015-1-50,2016-1-58）
