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使用全基因组关联研究策略发现变应性鼻炎和过敏症的易感基因。

Discovering susceptibility genes for allergic rhinitis and allergy using a genome-wide association study strategy.

作者信息

Li Jingyun, Zhang Yuan, Zhang Luo

机构信息

aDepartment of Otolaryngology Head and Neck Surgery, Beijing TongRen Hospital, Capital Medical University bBeijing Key Laboratory of Nasal Diseases, Beijing Institute of Otolaryngology cDepartment of Allergy, Beijing TongRen Hospital, Capital Medical University, Beijing, PR China *Jingyun Li and Yuan Zhang contributed equally to the writing of this article.

出版信息

Curr Opin Allergy Clin Immunol. 2015 Feb;15(1):33-40. doi: 10.1097/ACI.0000000000000124.

DOI:10.1097/ACI.0000000000000124
PMID:25304232
Abstract

PURPOSE OF REVIEW

Allergic rhinitis and allergy are complex conditions, in which both genetic and environmental factors contribute to the pathogenesis. Genome-wide association studies (GWASs) employing common single-nucleotide polymorphisms have accelerated the search for novel and interesting genes, and also confirmed the role of some previously described genes which may be involved in the cause of allergic rhinitis and allergy. The aim of this review is to provide an overview of the genetic basis of allergic rhinitis and the associated allergic phenotypes, with particular focus on GWASs.

RECENT FINDINGS

The last decade has been marked by the publication of more than 20 GWASs of allergic rhinitis and the associated allergic phenotypes. Allergic diseases and traits have been shown to share a large number of genetic susceptibility loci, of which IL33/IL1RL1, IL-13-RAD50 and C11orf30/LRRC32 appear to be important for more than two allergic phenotypes. GWASs have further reflected the genetic heterogeneity underlying allergic phenotypes.

SUMMARY

Large-scale genome-wide association strategies are underway to discover new susceptibility variants for allergic rhinitis and allergic phenotypes. Characterization of the underlying genetics provides us with an insight into the potential targets for future studies and the corresponding interventions.

摘要

综述目的

变应性鼻炎和过敏是复杂的病症,其中遗传和环境因素均对发病机制有影响。采用常见单核苷酸多态性的全基因组关联研究(GWAS)加速了对新的和有趣基因的寻找,同时也证实了一些先前描述的可能与变应性鼻炎和过敏病因有关的基因的作用。本综述旨在概述变应性鼻炎及相关过敏表型的遗传基础,尤其侧重于全基因组关联研究。

最新发现

在过去十年中,发表了20多项关于变应性鼻炎及相关过敏表型的全基因组关联研究。变应性疾病和性状已被证明共享大量遗传易感基因座,其中IL33/IL1RL1、IL-13-RAD50和C11orf30/LRRC32似乎对两种以上的过敏表型很重要。全基因组关联研究进一步反映了过敏表型背后的遗传异质性。

总结

正在开展大规模全基因组关联策略,以发现变应性鼻炎和过敏表型的新的易感变异。对潜在遗传学特征的描述为我们提供了对未来研究潜在靶点及相应干预措施的深入了解。

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