从自身免疫性疾病的角度探讨炎症性肠病的遗传成分和多组学来源。

IF 2.9 3区 医学 Q2 RHEUMATOLOGY
Zhonghai Wang, Xin Chen, Quan-Bo Zhang, Han Wang
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引用次数: 0

摘要

背景:炎症性肠病(IBD)和自身免疫性疾病是免疫系统失调的结果。然而,他们之间的基因重叠仍然不清楚。我们的研究旨在从自身免疫性疾病的角度探讨IBD的遗传机制和结构。方法:性状间的遗传相关性(genetic correlation, rg)可以为揭示遗传机制提供有价值的信息。利用全基因组关联研究的汇总统计数据,我们深入研究了IBD (N = 34,652)与自身免疫性疾病(N = 1,755,610)的遗传相关性、共同遗传和潜在因果关系。我们在基因水平上进行转录组学,基因组注释的多标记分析,以及生物途径的富集分析,以突出共享和多样化的观点。结果:IBD与强直性脊柱炎(rg = 0.327)、类风湿关节炎(rg = 0.242)、1型糖尿病(rg = - 0.061)、银屑病(rg = 0.246)、强直性脊柱炎(rg = 0.308)具有显著的遗传相关性。在基因水平的一致研究后,我们确定了110个独特的区域(包括5p33.3, 10q25.3和22q13.31)。通过转录组学技术,我们发现了几种组织中潜在的共同生物学机制,包括血液、脾脏、甲状腺和胰腺,揭示了涉及lincRNA、蛋白质编码和假基因的潜在共同生物学机制。结论:我们的研究证实了假设的多效性基因组区域,为在多组学基础上深入研究IBD和自身免疫性疾病的遗传基础提供了重要线索。此外,我们已经确定了这些疾病之间的共同致病过程和潜在的共同治疗靶点。•这一发现在多组学平台上为炎性肠病和自身免疫性疾病的遗传基础提供了新的视角。•基于功能摘要的imputation和因果基因组的精细映射已经确定了假设的多效基因组区域。•已确定的基因和途径可能为预防免疫相关疾病提供创新目标。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Exploring the genetic components and multi-omics sources of inflammatory bowel disease from the perspective of autoimmune disorders.

Background: Inflammatory bowel disease (IBD) and autoimmune disorders result from immune system dysregulation. However, the genetic overlap between them remains unclear. Our study aimed to investigate the genetic mechanisms and structure of IBD from the perspective of autoimmune disorders.

Methods: The genetic correlation (rg) between traits can provide valuable information about the shared underlying biological mechanisms. Utilizing summary statistics from genome-wide association studies, we delved into the genetic correlation, shared inheritance, and potential causality of IBD (N = 34,652) with autoimmune disorders (N = 1,755,610). We performed transcriptomics at the gene level, multi-marker analyses of genome annotations, and enrichment analyses of biological pathways to highlight shared and diverse perspectives.

Results: There were significant genetic correlations between IBD and ankylosing spondylitis (rg = 0.327), rheumatoid arthritis (rg = 0.242), type 1 diabetes (rg = - 0.061), psoriasis (rg = 0.246), and ankylosing spondylitis (rg = 0.308). We identified 110 unique regions (including 5p33.3, 10q25.3, and 22q13.31) after a consistent study at the gene levels. By implementing transcriptomics techniques, we discovered potential common biological mechanisms in several tissues, including blood, spleen, thyroid, and pancreas, revealing potential common biological mechanisms involving lincRNA, protein-coding, and pseudogenes.

Conclusion: Our study demonstrated hypothesized pleiotropic genomic regions that provide important clues to delve into the genetic basis of IBD and autoimmune disorders on the basis of multi-omics. Moreover, we have identified shared pathogenic processes and potential common therapeutic targets among these diseases. Key Points • The finding provides a new perspective on the genetic basis of inflammatory bowel disease and autoimmune disease across multi-omics platforms. • Fine mapping of functional summary-based imputation and causal genomes has identified hypothesized pleiotropic genomic regions. • The identified genes and pathways may offer innovative targets for the prevention of immune-related diseases.

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来源期刊
Clinical Rheumatology
Clinical Rheumatology 医学-风湿病学
CiteScore
6.90
自引率
2.90%
发文量
441
审稿时长
3 months
期刊介绍: Clinical Rheumatology is an international English-language journal devoted to publishing original clinical investigation and research in the general field of rheumatology with accent on clinical aspects at postgraduate level. The journal succeeds Acta Rheumatologica Belgica, originally founded in 1945 as the official journal of the Belgian Rheumatology Society. Clinical Rheumatology aims to cover all modern trends in clinical and experimental research as well as the management and evaluation of diagnostic and treatment procedures connected with the inflammatory, immunologic, metabolic, genetic and degenerative soft and hard connective tissue diseases.
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