In the past 50 years there have been considerable efforts to identify the cellular receptor of hepatitis B virus（HBV）.Recently,in vitro evidence from several groups has shown that the sodium-taurocholate cotransport...
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In the past 50 years there have been considerable efforts to identify the cellular receptor of hepatitis B virus（HBV）.Recently,in vitro evidence from several groups has shown that the sodium-taurocholate cotransporting polypeptide（NTCP,which is encoded by SLC10A1 and transports bile acids into hepatic cells in enterohepatic recirculation）is a strong *** particular,in vitro the ***267Phe variation of SLC10A1 results in loss of HBV receptor *** tested the role of NTCP as a receptor for HBV in chronic hepatitis B patients using a genetic association *** selected SLC10A1 variants from 189 *** used Sanger sequencing to follow up the association of the various SLC10A1 variants in a Han Chinese cohort of 1899 chronic hepatitis B patients and 1828 healthy *** further investigated the potential impact of the ***267Phe variant on NTCP function using structural *** ***267Phe variant was associated with healthy status(P=5.7×10,odds ratio=0.36)irrespective of hepatitis B virus surface antibody status(P=6.2×10and 1.5×10,respectively,when the cases were compared with hepatitis B virus surface antibody-positive and-negative controls).The variation was also associated with a lower incidence of acuteon-chronic liver failure（P=0.007）.The estimated heritability explained by this single variation was.2%.The population prevented fraction was around 13.0%among the southern *** structural modeling showed that the ***267Phe variant might interfere with ligand binding,thereby preventing HBV from cellular ***:The ***267Phe NTCP variant is significantly associated with resistance to chronic hepatitis B and a lower incidence of acute-on-chronic liver *** results support that NTCP is a cellular receptor for HBV in human infection.
目的研究细胞毒性T淋巴细胞相关抗原-4(CTLA-4)基因CT60标记与系统性红斑狼疮(SLE)的相关性.方法利用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)对45例SLE患者和63名健康对照者进行CT60基因分型.采用荧光定量(FQ)-PCR法进行3′-非翻译区(3′-UTR)微卫星阵列(AT)n多态性基因分型,对CTLA-4基因3′-UTR微卫星阵列(AT)n与-1722T/C、-319C/T、+49A/G基因多态性进行分析,以求证CTLA-4单倍型与SLE的关系.结果在CT60A/G分型中,SLE患者AA基因型频率明显低于对照组(20.0% vs 25.4%) ,P=0.003,校正后P (Pcorr)=0.009,优势比(odds ratio,OR)=0.58, 95% CI 0.40～0.85.即病例组G基因表型频率高于对照组(80.0% vs 74.6%), P=0.009, Pcorr=0.006, OR=1.71, 95% CI 1.18～2.49.患者组与对照组的等位基因频率分布也明显不同(P=0.01),Pcorr=0.02, OR (等位基因G)=1.32,95% CI 1.06～1.65.结合不同基因多态性资料进行分析后,发现2个中性单倍型基因:+49A;(AT)7;CT60A和+49G;(AT)8～19;CT60G.此外,也发现易感性单倍型基因+49A;(AT)>19;CT60G.结论 CTLA-4基因3′-UTR为SLE易感性基因片段.
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