Li Na, Zhang Pingping, Yang Cuiling, Zhu Qianqian, Li Zhu, Li Fang, Han Qunying, Wang Yawen, Lv Yi, Wei Ping, Liu Zhengwen
1 Department of Infectious Diseases, First Affiliated Hospital, School of Medicine, Xi'an Jiaotong University , Xi'an, Shaanxi, People's Republic of China .
Genet Test Mol Biomarkers. 2014 Jun;18(6):425-9. doi: 10.1089/gtmb.2013.0491. Epub 2014 Apr 15.
Sodium taurocholate cotransporting polypeptide (NTCP) plays an important role in the enterohepatic circulation of bile acids and hepatocyte function and was recently proposed to be a functional receptor for hepatitis B virus (HBV).
This study investigated the association of the functional polymorphism c.800C>T (p.S267F) (rs2296651) of the NTCP gene with HBV infection.
The study included 244 patients with chronic HBV infection, 76 HBV infection resolvers, and 113 healthy controls. The polymorphism was genotyped using the polymerase chain reaction-restriction fragment length polymorphism method.
The distribution of the genotype and allele frequency of rs2296651 polymorphism was significantly different among the HBV patients, HBV infection resolvers, and healthy controls (p=0.034 and p=0.039, respectively). The frequency of genotype CT in HBV patients was significantly higher than that in healthy controls (11.9% vs. 4.4%, p=0.026, odds ratios [OR]=2.913, 95% confidence intervals [95% CI]=1.097-7.738). The frequency of allele T in HBV patients was also significantly higher than that in healthy controls (5.9% vs. 2.2%, p=0.029, OR=2.793, 95% CI=1.067-7.312). The frequency of genotype CT and allele T in HBV patients was higher than that in HBV infection resolvers although the difference was not significant. The genotype and allele frequency between infection resolvers and healthy controls and between HBV patients with different clinical diseases had no significant difference.
These findings suggest that the rs2296651 polymorphism may predispose the susceptibility to and chronicity of HBV infection.
牛磺胆酸钠共转运多肽（NTCP）在胆汁酸的肠肝循环和肝细胞功能中起重要作用，最近被认为是乙型肝炎病毒（HBV）的功能性受体。
本研究调查NTCP基因功能性多态性c.800C>T（p.S267F）（rs2296651）与HBV感染的相关性。
研究纳入244例慢性HBV感染者、76例HBV感染康复者和113例健康对照。采用聚合酶链反应-限制性片段长度多态性方法对该多态性进行基因分型。
rs2296651多态性的基因型和等位基因频率分布在HBV患者、HBV感染康复者和健康对照之间存在显著差异（分别为p=0.034和p=0.039）。HBV患者中基因型CT的频率显著高于健康对照（11.9%对4.4%，p=0.026，比值比[OR]=2.913，95%置信区间[95%CI]=1.097-7.738）。HBV患者中等位基因T的频率也显著高于健康对照（5.9%对2.2%，p=0.029，OR=2.793，95%CI=1.067-7.312）。HBV患者中基因型CT和等位基因T的频率高于HBV感染康复者，尽管差异不显著。感染康复者与健康对照之间以及不同临床疾病的HBV患者之间的基因型和等位基因频率无显著差异。
这些发现表明，rs2296651多态性可能使个体易患HBV感染并导致慢性感染。
