RESUMEN
Benign neutropenia, observed in different ethnic groups, is the most common form of neutropenia worldwide. A specific single nucleotide polymorphism, rs2814778, located at the promoter of the ACKR1 (previously termed DARC) gene, which disrupts a binding site for the GATA1 erythroid transcription factor, resulting in a ACKR1-null phenotype, was found to serve as a predictor of low white blood cell and neutrophil counts in African-Americans and Yemenite Jews. Individuals with benign neutropenia due to the ACKR1-null allele have been found to have an increased susceptibility to human immunodeficiency virus infection and, on the other hand, a protective effect against malaria. The associated protective effect may explain the spread of the ACKR1-null allele by natural selection. The reviewed relationships between ACKR1 polymorphism and various pathological states may have important clinical implications to individuals with and without benign neutropenia. Potential mechanisms for ACKR1 (previously termed DARC) modulation during neutrophil recruitment to inflammation, and chemokine bioavailability in the circulation and in local tissue are reviewed and discussed.
Asunto(s)
Sistema del Grupo Sanguíneo Duffy , Factor de Transcripción GATA1 , Neutropenia , Polimorfismo de Nucleótido Simple , Receptores de Superficie Celular , Elementos de Respuesta/inmunología , Sistema del Grupo Sanguíneo Duffy/genética , Sistema del Grupo Sanguíneo Duffy/inmunología , Factor de Transcripción GATA1/genética , Factor de Transcripción GATA1/inmunología , Predisposición Genética a la Enfermedad , Infecciones por VIH/genética , Infecciones por VIH/inmunología , Infecciones por VIH/patología , VIH-1/inmunología , Humanos , Malaria/genética , Malaria/inmunología , Malaria/patología , Neutropenia/genética , Neutropenia/inmunología , Neutropenia/patología , Neutrófilos/inmunología , Neutrófilos/patología , Receptores de Superficie Celular/genética , Receptores de Superficie Celular/inmunologíaRESUMEN
INTRODUCTION: Short text: Click here for article written by Naama Rappoport, Neta Gotlieb, Olga Feld, Avi Livneh HAREFUAH 2016: 155: November: 637-641.