CAJ | 학술논문

近十年,随着人类基因组计划的建立及不断完善、遗传学队列研究和基因分型技术的日趋成熟,复杂性疾病遗传背景的研究获得了突飞猛进的发展.迄今已发现数百个与复杂性疾病存在可靠关联的遗传变异,这为我们认识复杂性疾病发病机制提供了重要线索.该文将重点回顾近十年复杂性疾病遗传学研究的进展,主要包括:人类对基因组序列和结构认识的进步,复杂性疾病研究策略、队列的进步,基因分型技术的进展,最后简要概括这些进步对于复杂性疾病遗传学研究的新贡献.
근십년,수착인류기인조계화적건립급불단완선、유전학대렬연구화기인분형기술적일추성숙,복잡성질병유전배경적연구획득료돌비맹진적발전.흘금이발현수백개여복잡성질병존재가고관련적유전변이,저위아문인식복잡성질병발병궤제제공료중요선색.해문장중점회고근십년복잡성질병유전학연구적진전,주요포괄:인류대기인조서렬화결구인식적진보,복잡성질병연구책략、대렬적진보,기인분형기술적진전,최후간요개괄저사진보대우복잡성질병유전학연구적신공헌.
Making connections between genotypic and phenotypic variation has been a great challenge for geneticists engaged in the study of human complex disease for quite a long time.However,during the past ten years,as access to more detailed information for human genome in sequence and in structure,to enormous advances in genotyping technology,and to worldwide large cohorts with certain complex traits emerged as highly successful,closing the gap between genotype and phenotype proved to be promising.Hundreds of genetic variations including common variations as well as rare ones have been consistently associated with complex diseases,which provided important clues to genetic architectures and pathogenesis of complex diseases.Here we will briefly summarize advances in genetics of complex disease within these ten years,mainly focused on the issues of human genome,strategies in genetic study,collaborative disease cohorts,genotyping and sequencing technologies and at last,the significance of these advances made to complex diseases.