Shivakumar Shriya, Wilken Madison B, Tsao Victor, Bitarello Bárbara D, Thom Christopher S
Division of Neonatology, Children's Hospital of Philadelphia, Philadelphia, PA.
Bryn Mawr College, Bryn Mawr, PA.
medRxiv. 2023 May 11:2023.05.01.23289329. doi: 10.1101/2023.05.01.23289329.
Genome wide association studies (GWAS) have associated thousands of loci with quantitative human blood trait variation. Blood trait associated loci and related genes may regulate blood cell-intrinsic biological processes, or alternatively impact blood cell development and function via systemic factors and disease processes. Clinical observations linking behaviors like tobacco or alcohol use with altered blood traits can be subject to bias, and these trait relationships have not been systematically explored at the genetic level. Using a Mendelian randomization (MR) framework, we confirmed causal effects of smoking and drinking that were largely confined to the erythroid lineage. Using multivariable MR and causal mediation analyses, we confirmed that an increased genetic predisposition to smoke tobacco was associated with increased alcohol intake, indirectly decreasing red blood cell count and related erythroid traits. These findings demonstrate a novel role for genetically influenced behaviors in determining human blood traits, revealing opportunities to dissect related pathways and mechanisms that influence hematopoiesis.
全基因组关联研究(GWAS)已将数千个基因座与人类血液性状的定量变异联系起来。与血液性状相关的基因座和相关基因可能调节血细胞内在的生物学过程,或者通过全身因素和疾病过程影响血细胞的发育和功能。将吸烟或饮酒等行为与血液性状改变联系起来的临床观察可能存在偏差,而且这些性状关系尚未在基因水平上进行系统探索。利用孟德尔随机化(MR)框架,我们证实了吸烟和饮酒的因果效应,这些效应主要局限于红系谱系。通过多变量MR和因果中介分析,我们证实,吸烟的遗传易感性增加与酒精摄入量增加有关,从而间接降低红细胞计数和相关的红系性状。这些发现证明了基因影响的行为在决定人类血液性状方面的新作用,揭示了剖析影响造血的相关途径和机制的机会。