Characterization of the phenotypic consequences of the Duffy-null genotype.

ABSTRACT:

Abstract

A wealth of research focused on African American populations has connected rs2814778-CC ("Duffy-null") to decreased neutrophil (neutropenia) and leukocyte counts (leukopenia). Although it has been proposed that this variant is benign, prior studies have shown that the misinterpretation of Duffy-null-associated neutropenia and leukopenia can lead to unnecessary bone marrow biopsies, inequities in cytotoxic and chemotherapeutic treatment courses, underenrollment in clinical trials, and other disparities. To investigate the phenotypic correlates of Duffy-null status, we conducted a phenome-wide association study across >1400 clinical conditions in All of Us, the Vanderbilt University Medical Center's Biobank, and the Million Veteran Program. This reveals that Duffy-null statu

SUBMITTER: Hysong MR 

PROVIDER: S-EPMC11960523 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature