Genetic variants of erythropoietin (EPO) and EPO receptor genes in familial erythrocytosis.

ABSTRACT:

Objectives

Erythrocytosis is characterized by the expansion of erythrocyte compartment including elevated red blood cell number, hematocrit, and hemoglobin content. Familial erythrocytosis (FE) is a congenital disorder with different genetic background. Type 1 FE is primary FE caused by mutation in erythropoietin receptor gene (EPOR). Type 2-5 FE are secondary FEs caused by mutations of genes involved in oxygen sensing pathway important for erythropoietin (EPO) regulation. In the present study, we summarized associations between EPOR and EPO gene variations with development of FE and searched for genetic variants located within regulatory regions.

Methods

Publications reporting EPOR and EPO sequence variants associated with FE or clinical features of erythrocytosis were retr

SUBMITTER: Vocanec D 

PROVIDER: S-EPMC7379665 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature