Abstract：
Beclin 1 protein encoded by the BECN1 gene plays a critical role in the autophagy pathway which is utilized by the Hepatitis B virus (HBV) for its replication. HBV is known for the subversion of the host\'s autophagy process for its multiplication. The aim of this study was to determine the role of BECN1 intronic variants in HBV susceptibility. Intronic region variant rs9890617 was analyzed using Human splicing finder v3.1 and was found to alter splicing signals. A total of 712 individuals (494 HBV infected and 218 healthy controls) were recruited in the study and genotyped by applying Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP). Statistical analysis revealed that the mutant allele T of rs9890617 was significantly associated with the overall disease risk in the allelic model (OR 1.41; 95%CI 1.00-1.99, p = 0.04). On stratifying the data based on the different stages of HBV infection, the mutant genotype showed a significant association with the chronic group in allelic (OR 1.62; 95%CI 1.11-2.39, p = 0.01), dominant (OR 1.64; 95%CI 1.07-2.52, p = 0.02), and co-dominant (OR 1.55; 95%CI 1.00-2.40, p = 0.04) models. Overall, this is the first study regarding beclin 1 variant rs9890617 and we found a significant association of the mutant T allele with the genetic predisposition to HBV infection.
摘要：
BECN1基因编码的Beclin1蛋白在乙型肝炎病毒（HBV）用于其复制的自噬途径中起着关键作用。HBV以其增殖的宿主自噬过程的颠覆而闻名。这项研究的目的是确定BECN1内含子变异在HBV易感性中的作用。使用人类剪接器v3.1分析了内区域变体rs9890617,发现其改变剪接信号。在研究中招募了总共712名个体（494名HBV感染和218名健康对照），并通过应用聚合酶链反应限制性片段长度多态性（PCR-RFLP）进行了基因分型。统计分析表明，rs9890617的突变等位基因T与等位基因模型中的总体疾病风险显着相关（OR1.41;95CI1.00-1.99，p=0.04）。关于根据HBV感染的不同阶段对数据进行分层，突变基因型与等位基因慢性组显著相关(OR1.62;95CI1.11-2.39,p=0.01),显性(OR1.64；95CI1.07-2.52，p=0.02)，和共显性(OR1.55；95CI1.00-2.40，p=0.04)模型。总的来说,这是第一项关于beclin1变异rs9890617的研究,我们发现突变T等位基因与HBV感染的遗传易感性显著相关.
