SLC10A1基因p．S267F位点单核苷酸多态性与HBV感染临床转归之间的相关性

Polymorphisms in p.S267F of SLC10A1 gene is associated with clinical outcomes of HBV infection

目的：探讨SLC10A1基因在p．S267F位点单核苷酸多态性与HBV感染临床转归之间的相关性。方法连续收集2014年7月至2015年2月在复旦大学附属公共卫生临床中心就诊的HBV感染者1268例。采用聚合酶链反应-限制性片段长度多态性（ PCR-RFLP）技术对所有HBV感染者的SLC10A1基因p．S267F位点进行测序分型，通过对临床资料的分析来探讨SLC10A1基因p．S267F位点突变与HBV感染临床转归之间相关性。结果1268例HBV感染患者中，基因CC型1226例，基因CT型42例，p．S267F位点突变发生率为3．31％（42／1268）。与未发生p．S267F位点突变的HBV感染者（基因CC型）相比，p．S267F位点突变（基因CT型）的HBV感染者中急性HBV感染率较高（13．6％ vs．28.6％，χ2＝19．819， P ＜0．05）、HBV 相关肝硬化或肝癌的比例较低（13．9％vs．4．8％，χ2＝18.945，P＜0．05）。结论 p．S267F位点单核苷酸多态性可能与HBV感染慢性化、重症化存在相关性。其中，基因CT型可能是HBV感染慢性化、重症化的保护因素。

Objective To investigate the association of restriction fragment length polymorphisms （RFLP） in p.S267F of SLC10A1 gene with clinical outcomes of hepatitis B virus （HBV） infection. Methods Clinical data of 1 268 patients with HBV infections admitted in Public Health Clinical Center Affiliated to Fudan University during July 2014 and February 2015 were collected.Polymerase chain reaction-restriction fragment length polymorphism （ PCR-RFLP） method was used to genotype the p .S267F of SLC10A1 gene in all patients, and the potential association between variants in p .S267F of SLC10A1 gene and the clinical outcomes of HBV infection was analyzed .Results Among 1 268 patients with HBV infections, 1 226 were of genotype CC, and 42 were of genotype CT, so the variation rate in p.S267F was 3.31%（42/1 268）.Compared with patients with genotype CC , patients with genotype CT had a higher incidence of acute HBV infections （13.6%vs.28.6%,χ2 =19.819, P〈0.05） and a lower incidence of HBV-related liver cirrhosis or hepatocellular carcinoma （13.9% vs.4.8%, χ2 =18.945, P 〈0.05）. Conclusion RFLP in p.S267F of SLC10A1 gene may be associated with chronicity and aggravation of HBV infection, and genotype CT is possibly a protective factor .