Department of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
J Hum Genet. 2023 Aug;68(8):559-563. doi: 10.1038/s10038-023-01146-0. Epub 2023 Apr 3.
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: 0.47-0.81, P: 5.59E-04). Meanwhile, higher hematocrit level was nominally associated with reduced risk of PBC (OR: 0.73, 95% CI: 0.57-0.93, 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.
血液学异常与原发性胆汁性胆管炎（PBC）的易感性存在观察相关性。然而，这一结论仍存在争议，其是否存在因果关系仍难以捉摸。本研究旨在探讨血液学特征在 PBC 发病风险中的因果作用。我们基于先前大规模全基因组关联研究的汇总统计数据，进行了两样本和多变量孟德尔随机化分析。总共分析了 12 种红细胞和 6 种白细胞特征。遗传决定的较高血红蛋白水平与 PBC 风险降低显著相关（OR：0.62，95%CI：0.47-0.81，P：5.59E-04）。同时，较高的血细胞比容水平与 PBC 风险降低呈名义相关（OR：0.73，95%CI：0.57-0.93，P：0.01）。这些结果有助于更好地理解血液学特征在 PBC 发病风险中的作用，并为疾病的预防和治疗提供潜在靶点。
