大规模跨性状遗传分析凸显了自身免疫性疾病的共同遗传背景。

IF 2.7 Q3 IMMUNOLOGY
Yuji Yamamoto, Yuya Shirai, Ryuya Edahiro, Atsushi Kumanogoh, Yukinori Okada
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引用次数: 0

摘要

与免疫系统相关的疾病会给多个器官带来负担,尽管这些疾病存在共同的生物学特性。基于家族的前期研究显示,免疫疾病在不同程度上具有遗传性,这为免疫基因组学提供了基础。近年来,遗传分析成本的降低极大地促进了生物库规模研究和统计遗传学框架的发展。包括全基因组关联研究(GWAS)和单细胞分辨率的 RNA 测序在内的多层次 omics 数据不断积累,使我们能够剖析免疫相关疾病的遗传背景。虽然自身免疫性疾病和过敏性疾病通常被归为不同的疾病类别,但流行病学研究显示,自身免疫性疾病和过敏性疾病并发症的发病率很高,这表明这两类疾病之间存在共同的遗传学和生物学特性。生物库资源和联盟涵盖了多种免疫相关疾病,积累了全表型的遗传变异关联,增强了研究人员分析共同和异质遗传背景的能力。新出现的后 GWAS 和综合多组学分析为多类疾病关联提供了遗传学和生物学方面的见解。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Large-scale cross-trait genetic analysis highlights shared genetic backgrounds of autoimmune diseases.

Disorders associated with the immune system burden multiple organs, although the shared biology exists across the diseases. Preceding family-based studies reveal that immune diseases are heritable to varying degrees, providing the basis for immunogenomics. The recent cost reduction in genetic analysis intensively promotes biobank-scale studies and the development of frameworks for statistical genetics. The accumulating multi-layer omics data, including genome-wide association studies (GWAS) and RNA-sequencing at single-cell resolution, enable us to dissect the genetic backgrounds of immune-related disorders. Although autoimmune and allergic diseases are generally categorized into different disease categories, epidemiological studies reveal the high incidence of autoimmune and allergic disease complications, suggesting the shared genetics and biology between the disease categories. Biobank resources and consortia cover multiple immune-related disorders to accumulate phenome-wide associations of genetic variants and enhance researchers to analyze the shared and heterogeneous genetic backgrounds. The emerging post-GWAS and integrative multi-omics analyses provide genetic and biological insights into the multicategorical disease associations.

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来源期刊
Immunological Medicine
Immunological Medicine Medicine-Immunology and Allergy
CiteScore
7.10
自引率
2.30%
发文量
19
审稿时长
19 weeks
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