本文關(guān)鍵詞：慢性乙型肝炎易感基因的全基因組關(guān)聯(lián)研究進展　出處：《現(xiàn)代免疫學(xué)》2017年01期 　論文類型：期刊論文

  更多相關(guān)文章： 乙型肝炎病毒 慢性乙型肝炎 單核苷酸多態(tài)性 全基因組關(guān)聯(lián)研究 易感基因

【摘要】：慢性乙型肝炎(chronic hepatitis B,CHB)是一種由遺傳、病毒與環(huán)境因素共同導(dǎo)致的復(fù)雜疾病,具有高度的遺傳異質(zhì)性。自2009年首個CHB全基因組關(guān)聯(lián)研究(genome-wide association studies,GWAS)報道以來,許多GWAS相繼開展。文章首先對目前發(fā)表的CHB易感基因的GWAS結(jié)果進行匯總,發(fā)現(xiàn)染色體6p21.32區(qū)域中CHB易感位點最多。然而目前GWAS主要基于"常見變異-常見疾病"原則設(shè)計,只涉及了頻率≥5%的單核苷酸多態(tài)性(single nucleotide polymorphism,SNP),沒有涵蓋人類基因組中重要的低頻變異。同時GWAS鑒定到的最顯著關(guān)聯(lián)的SNP大多位于內(nèi)含子、基因間區(qū)等非編碼區(qū)域內(nèi),導(dǎo)致功能學(xué)研究無法開展。乙型肝炎病毒(hepatitis B virus,HBV)功能性受體鈉離子-�；悄懰峁厕D(zhuǎn)運蛋白的發(fā)現(xiàn),加快了HBV感染的機制研究。同時第二代測序技術(shù)的發(fā)展為CHB易感基因的發(fā)現(xiàn)提供了契機。因此今后的研究應(yīng)將GWAS的發(fā)現(xiàn)與功能學(xué)研究相結(jié)合,以逐步揭示HBV感染的遺傳機制。
[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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