Genetics of allergic diseases.

Genetics of allergic diseases.
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DOI:
10.1016/j.iac.2014.09.014
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发表时间:
2015-02
影响因子:
2.6
通讯作者:
Barnes, Kathleen C.
Barnes, Kathleen C.
中科院分区:
医学3区
文献类型:
--
作者:
Ortiz, Romina A.;Barnes, Kathleen C.

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过敏性疾病是复杂的表型,其强大的遗传基础已经牢固建立。全基因组关联研究(GWAS)已被广泛应用于过敏性疾病领域,迄今为止,除了AD、AR和IgE水平的多个基因/位点外,已发表了近100个哮喘基因/位点的显著关联,其中绝大多数候选基因是新颖的,并对先天性和适应性免疫应答基因在过敏性疾病中的作用给予了新的评价。GWAS在过敏性疾病中的一个主要成果是形成了国家和国际合作,导致了联盟荟萃分析,以及对过敏性疾病亚表型遗传关联特异性的认识。分子遗传学经历了一场技术革命,导致下一代测序(NGS)策略越来越多地用于研究与过敏性疾病相关的致病变异。该领域未满足的需求包括纳入族裔和种族多样化的群体,以及管理“大数据”的战略,这是测序等技术进步的结果。
The allergic diseases are complex phenotypes for which a strong genetic basis has been firmly established. Genome-wide association studies (GWAS) has been widely employed in the field of allergic disease, and to date significant associations have been published for nearly 100 asthma genes/loci, in addition to multiple genes/loci for AD, AR and IgE levels, for which the overwhelming number of candidates are novel and have given a new appreciation for the role of innate as well as adaptive immune-response genes in allergic disease. A major outcome of GWAS in allergic disease has been the formation of national and international collaborations leading to consortia meta-analyses, and an appreciation for the specificity of genetic associations to sub-phenotypes of allergic disease. Molecular genetics has undergone a technological revolution, leading to next generation sequencing (NGS) strategies that are increasingly employed to hone in on the causal variants associated with allergic diseases. Unmet needs in the field include the inclusion of ethnically and racially diverse cohorts, and strategies for managing ‘big data’ that is an outcome of technological advances such as sequencing.
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