Hypoxic response contributes to altered gene expression and precapillary pulmonary hypertension in patients with sickle cell disease.

ABSTRACT:

Background

We postulated that the hypoxic response in sickle cell disease (SCD) contributes to altered gene expression and pulmonary hypertension, a complication associated with early mortality.

Methods and results

To identify genes regulated by the hypoxic response and not other effects of chronic anemia, we compared expression variation in peripheral blood mononuclear cells from 13 subjects with SCD with hemoglobin SS genotype and 15 subjects with Chuvash polycythemia (VHL(R200W) homozygotes with constitutive upregulation of hypoxia-inducible factors in the absence of anemia or hypoxia). At a 5% false discovery rate, 1040 genes exhibited >1.15-fold change in both conditions; 297 were upregulated and 743 downregulated including MAPK8 encoding a mitogen-activated protein kin

SUBMITTER: Zhang X 

PROVIDER: S-EPMC4287376 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature