Snakemake pipeline to reproduce the results from the paper:
Associations of ABO and Rhesus D Blood Groups with Phenome-Wide Disease Incidence: A 41-year Retrospective Cohort Study of 482,914 Patients.
Developed by: Peter Bruun-Rasmussen.
Please consider citing the paper if you use the code: https://elifesciences.org/articles/83116
Peter Bruun-Rasmussen, Morten Hanefeld Dziegiel, Karina Banasik, Pär Ingemar Johansson, Søren Brunak (2023) Associations of ABO and rhesus d blood groups with phenome-wide disease incidence: a 41-year retrospective cohort study of 482,914 patients eLife 12:e83116 https://doi.org/10.7554/eLife.83116
@article {10.7554/eLife.83116, article_type = {journal}, title = {Associations of ABO and rhesus d blood groups with phenome-wide disease incidence: a 41-year retrospective cohort study of 482,914 patients}, author = {Bruun-Rasmussen, Peter and Hanefeld Dziegiel, Morten and Banasik, Karina and Johansson, Pär Ingemar and Brunak, Søren}, editor = {Boonstra, Philip}, volume = 12, year = 2023, month = {mar}, pub_date = {2023-03-09}, pages = {e83116}, citation = {eLife 2023;12:e83116}, doi = {10.7554/eLife.83116}, url = {https://doi.org/10.7554/eLife.83116}, abstract = {\textbf{Background:} Whether natural selection may have attributed to the observed blood group frequency differences between populations remains debatable. The ABO system has been associated with several diseases and recently also with susceptibility to COVID-19 infection. Associative studies of the RhD system and diseases are sparser. A large disease-wide risk analysis may further elucidate the relationship between the ABO/RhD blood groups and disease incidence. \textbf{Methods:} We performed a systematic log-linear quasi-Poisson regression analysis of the ABO/RhD blood groups across 1,312 phecode diagnoses. Unlike prior studies, we determined the incidence rate ratio foreach individual ABO blood group relative to all other ABO blood groups as opposed to using blood group O as the reference. Moreover, we used up to 41-years of nationwide Danish follow-up data, and a disease categorization scheme specifically developed for diagnosis-wide analysis. Further, we determined associations between the ABO/RhD blood groups and the age at the first diagnosis. Estimates were adjusted for multiple testing. \textbf{Results:} The retrospective cohort included 482,914 Danish patients (60.4% females). The incidence rate ratios (IRRs) of 101 phecodes were found statistically significant between the ABO blood groups, while the IRRs of 28 phecodes were found statistically significant for the RhD blood group. The associations included cancers and musculoskeletal-, genitourinary-, endocrinal-, infectious-, cardiovascular-, and gastrointestinal diseases. \textbf{Conclusions:} We found associations of disease-wide susceptibility differences between the blood groups of the ABO and RhD systems, including cancer of the tongue, monocytic leukemia, cervical cancer, osteoarthrosis, asthma, and HIV- and hepatitis B infection.. We found marginal evidence of associations between the blood groups and the age at first diagnosis. \textbf{Funding:}; Novo Nordisk Foundation and the Innovation Fund Denmark.}, journal = {eLife}, issn = {2050-084X}, publisher = {eLife Sciences Publications, Ltd}, }