A phenome-wide association study of ABO blood groups
- PDF / 1,918,188 Bytes
- 11 Pages / 595.276 x 790.866 pts Page_size
- 12 Downloads / 174 Views
RESEARCH ARTICLE
Open Access
A phenome-wide association study of ABO blood groups Shun Li1 and C. M. Schooling1,2*
Abstract Background: ABO blood group is associated with differences in lifespan, cardiovascular disease, and some cancers, for reasons which are incompletely understood. To gain sex-specific additional insight about potential mechanisms driving these common conditions for future interventions, we characterized associations of ABO blood group antigen across the phenotype sex-specifically. Methods: We performed a phenome-wide association study (PheWAS) assessing the association of tag single nucleotide polymorphisms (SNPs) for ABO blood group antigens (O, B, A1, and A2) with 3873 phenotypes. Results: The tag SNP for the O antigen was inversely associated with diseases of the circulatory system (particularly deep vein thrombosis (DVT)), total cholesterol, low-density lipoprotein cholesterol (LDL-C), and ovarian cancer, and positively associated with erythrocyte traits, leukocyte counts, diastolic blood pressure (DBP), and healthy body composition; the tag SNP for the A1 antigen tended to have associations in reverse to O. Stronger associations were more apparent for men than women for DVT, DBP, leukocyte traits, and some body composition traits, whereas larger effect sizes were found for women than men for some erythrocyte and lipid traits. Conclusion: Blood group has a complex association with cardiovascular diseases and its major risk factors, including blood pressure and lipids, as well as with blood cell traits and body composition, with some differences by sex. Lower LDL-C may underlie some of the benefits of blood group O, but the complexity of associations with blood group antigen suggests overlooked drivers of common chronic diseases. Keywords: ABO blood group, Phenome-wide association study, Cardiovascular disease, Sex-specific analysis
Background ABO blood group is associated with several diseases [1]. People with blood group O have a lower risk of cardiovascular disease (CVD) [2], including myocardial infarction (MI), peripheral vascular disease, cerebral ischemic events [3], and venous thromboembolism [4], as well as of digestive system neoplasms (gastric and pancreatic cancer) [5] and ovarian cancer [6, 7], than people with other blood groups. Reasons for these differences are * Correspondence: [email protected] 1 School of Public Health, Li Ka Shing Faculty of Medicine, The University of Hong Kong, 7 Sassoon Rd, Pokfulam, Hong Kong, Special Administrative Region, China 2 School of Public Health and Health Policy, The City University of New York, 55 W 125 St, New York, NY 10027, USA
not entirely clear, although lower von Willebrand factor (vWF) is thought to be one contributing factor [8]. However, the mechanisms behind these differences have not been entirely elucidated, although they could shed light on the causes of cardiovascular disease, which is increasingly realized to be incompletely understood [9, 10]. Physiologically, blood groups are manifest as many differences [11], including in r
Data Loading...
