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哮喘和过敏的遗传学和表观遗传学的最新发现。

Recent findings in the genetics and epigenetics of asthma and allergy.

机构信息

Department of Pediatric Pneumology and Allergy, St. Hedwig's Hospital of the order of St. John, University Children's Hospital Regensburg (KUNO), Steinmetzstr. 1-3, 93049, Regensburg, Germany.

Laboratory for Epigenetics and Environment, Centre National de Recherche en Génomique Humaine, CEA - Institut de Biologie François Jacob, 2 rue Gaston Crémieux, 91000, Evry, France.

出版信息

Semin Immunopathol. 2020 Feb;42(1):43-60. doi: 10.1007/s00281-019-00777-w. Epub 2020 Feb 14.

DOI:10.1007/s00281-019-00777-w
PMID:32060620
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7066293/
Abstract

In asthma and allergy genetics, a trend towards a few main topics developed over the last 2 years. First, a number of studies have been published recently which focus on overlapping and/or very specific phenotypes: within the allergy spectrum but also reaching beyond, looking for common genetic traits shared between different diseases or disease entities. Secondly, an urgently needed focus has been put on asthma and allergy genetics in populations genetically different from European ancestry. This acknowledges that the majority of new asthma patients today are not white and asthma is a truly worldwide disease. In epigenetics, recent years have seen several large-scale epigenome-wide association studies (EWAS) being published and a further focus was on the interaction between the environment and epigenetic signatures. And finally, the major trends in current asthma and allergy genetics and epigenetics comes from the field of pharmacogenetics, where it is necessary to understand the susceptibility for and mechanisms of current asthma and allergy therapies while at the same time, we need to have scientific answers to the recent availability of novel drugs that hold the promise for a more individualized therapy.

摘要

在哮喘和过敏遗传学领域,过去两年出现了一些主要趋势。首先,最近发表了许多研究,这些研究侧重于重叠和/或非常特定的表型:在过敏范围内,但也超越了范围,寻找不同疾病或疾病实体之间共有的遗传特征。其次,迫切需要关注遗传背景不同于欧洲血统的人群中的哮喘和过敏遗传学。这认识到,今天大多数新的哮喘患者不是白人,哮喘是一种真正的全球性疾病。在表观遗传学方面,近年来发表了几项大规模的全基因组关联研究(EWAS),进一步的重点是环境与表观遗传特征之间的相互作用。最后,当前哮喘和过敏遗传学和表观遗传学的主要趋势来自于药物遗传学领域,在理解当前哮喘和过敏治疗的易感性和机制的同时,我们也需要对最近出现的新型药物有科学的认识,这些药物有望实现更个体化的治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a34c/7066293/1d1be747cdc3/281_2019_777_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a34c/7066293/02a078036800/281_2019_777_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a34c/7066293/dc0dde2ae0b0/281_2019_777_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a34c/7066293/1d1be747cdc3/281_2019_777_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a34c/7066293/02a078036800/281_2019_777_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a34c/7066293/dc0dde2ae0b0/281_2019_777_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a34c/7066293/1d1be747cdc3/281_2019_777_Fig3_HTML.jpg

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Cell-Specific DNA Methylation Signatures in Asthma.哮喘中的细胞特异性 DNA 甲基化特征。
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Maternal Smoking During Pregnancy Induces Persistent Epigenetic Changes Into Adolescence, Independent of Postnatal Smoke Exposure and Is Associated With Cardiometabolic Risk.
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Whole-Genome Bisulfite Sequencing Protocol for the Analysis of Genome-Wide DNA Methylation and Hydroxymethylation Patterns at Single-Nucleotide Resolution.全基因组亚硫酸氢盐测序法分析全基因组 DNA 甲基化和羟甲基化模式的单核苷酸分辨率。
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Front Pediatr. 2024 Jun 18;12:1360420. doi: 10.3389/fped.2024.1360420. eCollection 2024.
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