慢性乙型肝炎易感基因的全基因组关联研究进展

发布时间：2017-12-31 11:18

  本文关键词：慢性乙型肝炎易感基因的全基因组关联研究进展　出处：《现代免疫学》2017年01期 　论文类型：期刊论文

  更多相关文章： 乙型肝炎病毒 慢性乙型肝炎 单核苷酸多态性 全基因组关联研究 易感基因

【摘要】：慢性乙型肝炎(chronic hepatitis B,CHB)是一种由遗传、病毒与环境因素共同导致的复杂疾病,具有高度的遗传异质性。自2009年首个CHB全基因组关联研究(genome-wide association studies,GWAS)报道以来,许多GWAS相继开展。文章首先对目前发表的CHB易感基因的GWAS结果进行汇总,发现染色体6p21.32区域中CHB易感位点最多。然而目前GWAS主要基于"常见变异-常见疾病"原则设计,只涉及了频率≥5%的单核苷酸多态性(single nucleotide polymorphism,SNP),没有涵盖人类基因组中重要的低频变异。同时GWAS鉴定到的最显著关联的SNP大多位于内含子、基因间区等非编码区域内,导致功能学研究无法开展。乙型肝炎病毒(hepatitis B virus,HBV)功能性受体钠离子-牛磺胆酸共转运蛋白的发现,加快了HBV感染的机制研究。同时第二代测序技术的发展为CHB易感基因的发现提供了契机。因此今后的研究应将GWAS的发现与功能学研究相结合,以逐步揭示HBV感染的遗传机制。
[Abstract]:Chronic hepatitis B (CHB) is a complex disease caused by heredity, virus and environmental factors. It has a high degree of genetic heterogeneity. Since 2009, the first CHB genome-wide association studies has been studied. Since the report of GWASS, many GWAS have been carried out one after another. Firstly, the GWAS results of CHB susceptibility genes published at present are summarized in this paper. It was found that there were the most susceptible CHB sites in chromosome 6p21.32. However, the current design of GWAS was mainly based on the principle of "common mutation-common diseases". Only single nucleotide polymorphisms (SNPs) with frequency 鈮，

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