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Hematologic traits and primary biliary cholangitis: a Mendelian randomization study

Journal of Human Genetics volumeĀ 68,Ā pages 559ā€“563 (2023)Cite this article

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Abstract

Hematologic abnormalities was observationally associated with the susceptibility of primary biliary cholangitis (PBC). However, the conclusion is still controversial and whether there exists a causal association remains elusive. Here we aimed to explore the causative role of hematological traits in the risk of PBC. We conducted two-sample and multivariable Mendelian randomization analyses based on summary statistics from previous large genome-wide association studies. Totally twelve red blood cell and six white blood cell traits were analyzed. Genetically determined higher hemoglobin level was significantly associated with a reduced risk of PBC (OR: 0.62, 95% CI: 0.47ā€“0.81, P: 5.59Eāˆ’04). Meanwhile, higher hematocrit level was nominally associated with reduced risk of PBC (OR: 0.73, 95% CI: 0.57ā€“0.93, P: 0.01). These results could help better understand the role of hematological traits in the risk of PBC, and provide potential targets for the disease prevention and treatment.

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Fig. 1

Data availability

Summary statistics of PBC could be downloaded from the GWAS Catalog (https://www.ebi.ac.uk/gwas/home, ID: GCST90061440). Summary statistics of each blood cell trait could be found in the original publication.

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Acknowledgements

This research was supported by the funding of the National Key Research and Development Program of China (Grant No. 2021YFC2501200) and the Sichuan Science and Technology Program (Grant No. 2022ZDZX0023 and 2021YJ0415).

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Authors and Affiliations

  1. Department of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan, China

    Bin Ke,Ā Chunyu LiĀ &Ā Huifang Shang

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  1. Bin Ke
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  2. Chunyu Li
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  3. Huifang Shang
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Contributions

(1) Research project: A. Conception, B. Organization, C. Execution; (2) Statistical Analysis: A. Design, B. Execution, C. Review and Critique; (3) paper: A. Writing of the First Draft, B. Review and Critique. BK: 1A, 1C, 2A, 2B, 3A; C.L.: 1B, 2C, 3B; H.S.: 1B, 2C, 3B.

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Correspondence to Chunyu Li or Huifang Shang.

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Ke, B., Li, C. & Shang, H. Hematologic traits and primary biliary cholangitis: a Mendelian randomization study. J Hum Genet 68, 559ā€“563 (2023). https://doi.org/10.1038/s10038-023-01146-0

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