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Updated: Jun 2, 2025

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Published on: June 2, 2021
Genetically predict the association between 91 human blood cell perturbation phenotypes and IBD: A Mendelian
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.
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