Disparities in ABO blood type determination across diverse ancestries: a systematic review and validation in the All of Us Research Program.

ABSTRACT:

Objectives

ABO blood types have widespread clinical use and robust associations with disease. The purpose of this study is to evaluate the portability and suitability of tag single-nucleotide polymorphisms (tSNPs) used to determine ABO alleles and blood types across diverse populations in published literature.

Materials and methods

Bibliographic databases were searched for studies using tSNPs to determine ABO alleles. We calculated linkage between tSNPs and functional variants across inferred continental ancestry groups from 1000 Genomes. We compared r2 across ancestry and assessed real-world consequences by comparing tSNP-derived blood types to serology in a diverse population from the All of Us Research Program.

Results

Linkage between functional variants and O alle

SUBMITTER: Martinez KL 

PROVIDER: S-EPMC11631141 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature