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全基因组关联研究在肝病中的应用

Advances inGenome-wide Association Studies of Liver Diseases
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摘要 大多数肝病是复杂性疾病，机体遗传因素和环境因素的相互作用是肝病发生的重要原因，遗传因素研究是肝病致病机制研究的重要组成部分。全基因组关联研究策略的发展为探索肝病的遗传因素提供了重要的研究工具。采用该策略已鉴定了许多肝病的易感基因或区域，包括：ABCG8（胆结石）；HLA、IL12A和IL12RB2（原发性胆汁性肝硬化）；HLA、MST1、BCL2L11和TCF4（原发性硬化性胆管炎）；PNPLA3（非酒精性脂肪肝）；HLA和STAT4（药物性肝病）；HLA（慢性乙型肝炎）；1L28B（慢性丙型肝炎的抗病毒疗效）；ITPA和DDRGK1（治疗慢性丙型肝炎时的溶血性贫血）；1p36．22、8p12、HIJA、GRIK1和STAT4（HBV相关肝癌）；以及DEPDC5和MICA（HCV相关肝癌）。 Most liver diseases are complex diseases, and determined by a combination of multiple genetic and environmental factors and their high order interactions. The identification of genetic factors is one of the main focuses of studies on pathogenesis of complex liver diseases. Genome-wide association studies have emerged as a useful tool and they have been used to identify many genes or genetic loci affecting susceptibility to liver diseases, including ABCG8 （cholelithiasis） ; IL12A and IL12RB2 （primary biliary cirrhosis）; HLA, MST1, BCL2Lll and TCF4 （primary sclerosing cholangitis） ; PNPLA3 （ nonalcoholic fatty liver disease） ; HLA and STAT4 （ drug-induced liver injury） ; HLA （chronic hepatitis B） ; IL28B （curative effect of antiviral treatment for chronic hepatitis C） ; ITPA and DDRGK1 （ribavirin-induced haemolytie anaemia） ; lp36. 22, 8p12, HLA, GRIK1 and STAT4 （hepatitis B virus-related hepatocellular carcinoma） ; and DEPDC5 and MICA （hepatitis C virus-related hepatocellular carcinoma） .
作者 谢波波 张红星 周钢桥
机构地区 中南大学生物科学与技术学院 军事医学科学院放射与辐射医学研究所 蛋白质药物国家工程研究中心 国家蛋白质科学中心
出处 《医学分子生物学杂志》 CAS 2013年第2期119-124,共6页 Journal of Medical Molecular Biology
基金 国家自然科学基金杰出青年科学基金（No.81125017）,国家自然科学基金面上项目（No.81222027,30901707,30901231）,北京市科技新星计划（No.20108006）
关键词 肝病 全基因组关联研究 易感基因 单核苷酸多态性 complex liver disease genome wide association study susceptibility gene single nucleotide polymorphism
分类号 Q3 [生物学—遗传学]
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参考文献45

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医学分子生物学杂志
2013年 第2期

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