Anthony Vicenti
Project Personnel, University of Arizona
1 active project
Duplicate of ABO PheWAS
Scientific Questions Being Studied
Research questions:
1) Can our novel ABO blood typing algorithm using genetic data be used effectively to extensively type ABO subtypes from whole genome sequencing and array data in a diverse cohort?
2) Will a SNP approach for ABO blood typing be concordant with available serotype?
3) What disease association ABO blood types can be replicated using the AllofUs dataset?
4) What novel disease associations, if any, with ABO blood types can be identified in a diverse cohort?
Relevance: Genomic variation in RBC and antigens is associated with a myriad of conditions. The ABO locus alone is associated with many conditions including venous thromboembolism (VTE), pancreatic cancer, malaria, and COVID-19. Furthermore, it is not common practice to extensively type beyond the traditional ABO blood groups, and the studies that do so are primarily done in individuals of European ancestry. Thus, we seek to do the first PheWAS on extensively typed RBC antigens and to do so in a diverse cohort.
Project Purpose(s)
- Disease Focused Research (red blood cell (RBC) antigen-associated diseases)
Scientific Approaches
We plan to employ a blood typing algorithm to extensively type RBC antigens from 1) whole genome sequencing and 2) array data in the AllofUs cohort, and compare the two outcomes. Then, we plan to employ the phenome-wide association study (PheWAS) approach to identify associations between RBC antigen types and other clinical phenotypes. PheWAS will be carried out using multivariable linear regression and logistic regressions with ABO blood groups with our novel ABO blood type. For example, in the case of the ABO blood group, ABO blood subtypes (A101, A102, Aw01, B101, etc.) will act as the independent variable and phenotypes, derived from participant provided information (PPI) electronic health records (EHR), as the dependent variable. Initial models will include adjustments for age, gender, and race/ethnicity. Differential associations by race/ethnicity, gender, and sex will also be evaluated.
Anticipated Findings
This proposed project aims to test our novel ABO blood typing algorithm on WGS and array data in the diverse AllofUs cohort. We also aim to replicate known RBC-disease associations as well as identify any novels ones that may be identified within a diverse cohort.
Demographic Categories of Interest
This study will not center on underrepresented populations.
Data Set Used
Controlled Tier
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