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一项跨疾病研究,旨在确定21种消化系统疾病之间的因果关系、共享基因变异和相关基因。

A cross-disorder study to identify causal relationships, shared genetic variants, and genes across 21 digestive disorders.

作者信息

Jiang Yue, Zhang Yihong, Ju Can, Zhang Ruyang, Li Hui, Chen Feng, Zhu Yefei, Shen Sipeng, Wei Yongyue

机构信息

Clinical Stem Cell Center, The Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, China.

Laboratory Medicine Center, The Second Affiliated Hospital of Nanjing Medical University, Nanjing 210011, China.

出版信息

iScience. 2023 Oct 16;26(11):108238. doi: 10.1016/j.isci.2023.108238. eCollection 2023 Nov 17.

DOI:10.1016/j.isci.2023.108238
PMID:37965154
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10641500/
Abstract

Digestive disorders are a significant contributor to the global burden of disease and seriously affect human quality of life. Research has already confirmed the presence of pleiotropic genetic loci among digestive disorders, and studies have explored shared genetic factors among pan-cancers, including various malignant digestive disorders. However, most cross-phenotype studies within the digestive tract system have been limited to a few traits, with no systematic coverage of common benign and malignant digestive disorders. Here, we analyzed data from the UK Biobank to investigate 21 digestive disorders, exploring the genetic correlations and causal relationships between diseases, as well as the common genetic factors and potential biological pathways driving these relationships. Our findings confirmed the extensive genetic correlation and causal relationship between digestive disorders, providing important insights into the genetic etiology, causality, disease prevention, and clinical treatment of diseases.

摘要

消化系统疾病是全球疾病负担的重要组成部分,严重影响人类生活质量。研究已经证实消化系统疾病中存在多效性基因位点,并且已有研究探索了泛癌(包括各种恶性消化系统疾病)之间的共同遗传因素。然而,消化道系统内的大多数跨表型研究仅限于少数性状,没有对常见的良性和恶性消化系统疾病进行系统覆盖。在此,我们分析了英国生物银行的数据,以研究21种消化系统疾病,探索疾病之间的遗传相关性和因果关系,以及驱动这些关系的共同遗传因素和潜在生物学途径。我们的研究结果证实了消化系统疾病之间广泛的遗传相关性和因果关系,为疾病的遗传病因、因果关系、疾病预防和临床治疗提供了重要见解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2471/10641500/33789e91b185/gr6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2471/10641500/67dd9a1499cd/fx1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2471/10641500/6f391da6b30d/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2471/10641500/8d09ab5e2b0a/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2471/10641500/be0ca955bd78/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2471/10641500/c3d67e25cfc7/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2471/10641500/d38067637f85/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2471/10641500/33789e91b185/gr6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2471/10641500/67dd9a1499cd/fx1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2471/10641500/6f391da6b30d/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2471/10641500/8d09ab5e2b0a/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2471/10641500/be0ca955bd78/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2471/10641500/c3d67e25cfc7/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2471/10641500/d38067637f85/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2471/10641500/33789e91b185/gr6.jpg

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