Akgöllü Ersin
Department of Gastroenterology, Çukurova University School of Medicine, Adana, Turkey.
Turk J Gastroenterol. 2019 Jul;30(7):616-623. doi: 10.5152/tjg.2019.18480.
BACKGROUND/AIMS: About 400 million people worldwide have been exposed to Hepatitis B (HBV) infection. A range of 10%-15% of chronic HBV carriers may present with various liver diseases including cirrhosis and hepatic cancer. The chronicity or clearance of HBV infection is dependent on viral and genetic variables. Genome-wide association studies (GWAS) have reported that the variants of human leukocyte antigen (HLA), rs3128917 and rs9380343, are significantly related to persistent HBV infection. HLA molecules are responsible for introducing various antigens into the immune system. These variants might affect antigen presentation by influencing HLA mRNA expression, therefore, antigen presentation may not be performed properly. This study aims to assess the relationship of HLA gene variants to chronic HBV infection.
HLA variants were explored in 238 chronic HBV patients and in 238 individuals with spontaneous clearance of HBV using PCR-RFLP assay.
The allele and genotype of rs9380343 polymorphism were associated with persistent HBV infection risk (allele: p=0.038, genotype: p=0.029), but rs3128917 polymorphism was not significant. Additionally, rs9380343 polymorphism was also related to increased risk of HBV infection in males (p<0.05).
The current study is the first report demonstrating the HLA rs9380343 polymorphism as a genetic risk factor for chronicity of HBV infection. Further independent studies are required to confirm the current findings using a larger sample size in different populations.
背景/目的:全球约有4亿人曾接触过乙肝病毒(HBV)感染。10%-15%的慢性HBV携带者可能会出现包括肝硬化和肝癌在内的各种肝脏疾病。HBV感染的慢性化或清除取决于病毒和基因变量。全基因组关联研究(GWAS)报告称,人类白细胞抗原(HLA)的rs3128917和rs9380343变体与持续性HBV感染显著相关。HLA分子负责将各种抗原引入免疫系统。这些变体可能通过影响HLA mRNA表达来影响抗原呈递,因此,抗原呈递可能无法正常进行。本研究旨在评估HLA基因变体与慢性HBV感染的关系。
采用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)检测238例慢性HBV患者和238例自发清除HBV的个体中的HLA变体。
rs9380343多态性的等位基因和基因型与持续性HBV感染风险相关(等位基因:p=0.038,基因型:p=0.029),但rs3128917多态性不显著。此外,rs9380343多态性也与男性HBV感染风险增加有关(p<0.05)。
本研究首次报道HLA rs9380343多态性是HBV感染慢性化的遗传危险因素。需要进一步的独立研究,在不同人群中使用更大样本量来证实当前的研究结果。