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基因预测91种人类血细胞扰动表型与炎症性肠病之间的关联:一项孟德尔随机化研究。

Genetically predict the association between 91 human blood cell perturbation phenotypes and IBD: A Mendelian randomization study.

作者信息

Yao Xin, Wang Song, Li Xiao, Wen Jieying, Huang Yunsi, Lan Weixuan, Huang Xuyu, Li Hao, Sun Yunlong, Zhao Xiaoqian, Zhang Tao

机构信息

Guangxi University of Chinese Medicine, Nanning, Guangxi, China.

Department of Gastroenterology, Ruikang Hospital of Guangxi Traditional Chinese Medical University, Nanning, Guangxi, China.

出版信息

Medicine (Baltimore). 2024 Nov 22;103(47):e40647. doi: 10.1097/MD.0000000000040647.

Abstract

Inflammatory bowel disease (IBD), encompassing Crohn disease and ulcerative colitis, is a group of persistent and recurrent gastrointestinal disorders. Despite the prevalence of these conditions, no studies have been conducted to examine the connection between altered human blood cell phenotypes and the underlying mechanisms of IBD pathogenesis. By utilizing summary statistics from genome-wide association studies, we executed a systematic two-sample Mendelian randomization (MR) investigation on 91 genetically determined blood cell perturbation traits in relation to 3 separate IBD phenotypes. Our analysis sought to delineate the putative causal links between these blood cell perturbation phenotypes and IBD, thereby contributing to a more nuanced comprehension of the pathophysiological underpinnings and offering a foundation for the development of novel therapeutic approaches. The forward MR analysis identified 7 human blood cell perturbation phenotypes associated with various IBD outcomes, while the reverse MR analysis revealed that 9 human blood cell perturbation phenotypes were influenced by various IBD phenotypes. The study has uncovered human blood cell perturbation phenotypes associated with various IBD diseases, contributing to a deeper understanding of the pathogenesis of IBD. It also provides new insights for early clinical diagnosis, disease activity monitoring, immune surveillance, prognosis assessment, and personalized treatment.

摘要

炎症性肠病(IBD)包括克罗恩病和溃疡性结肠炎,是一组持续性和复发性胃肠道疾病。尽管这些病症普遍存在,但尚未有研究探讨人类血细胞表型改变与IBD发病机制之间的联系。通过利用全基因组关联研究的汇总统计数据,我们对91种基因决定的血细胞扰动性状与3种不同的IBD表型进行了系统的两样本孟德尔随机化(MR)研究。我们的分析旨在描绘这些血细胞扰动表型与IBD之间的假定因果联系,从而有助于更细致地理解病理生理基础,并为开发新的治疗方法提供基础。正向MR分析确定了7种与各种IBD结果相关的人类血细胞扰动表型,而反向MR分析表明9种人类血细胞扰动表型受各种IBD表型影响。该研究发现了与各种IBD疾病相关的人类血细胞扰动表型,有助于更深入地了解IBD的发病机制。它还为早期临床诊断、疾病活动监测、免疫监视、预后评估和个性化治疗提供了新的见解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/26f9/11596769/9e007a4a925b/medi-103-e40647-g001.jpg

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