Investigation of hypoxia-inducible factor-1alpha (HIF-1 alpha) gene polymorphisms in individuals with high levels of hemoglobin


TEPEBASI M. Y. , CALAPOGLU N. S. , CALAPOĞLU M.

TURKISH JOURNAL OF BIOCHEMISTRY-TURK BIYOKIMYA DERGISI, vol.41, no.5, pp.354-361, 2016 (SCI-Expanded) identifier identifier

Abstract

Objective: A classic physiologic response to systemic hypoxia is the increase in red blood cell production. Hypoxia-inducible factors (HIFs) orchestrate oxygen-sensing machinery and hypoxic cell metabolism. Recent works suggest that mutation of the HIF oxygen-sensing pathway plays a key role in the pathogenesis of the erythrocytosis. In the present study, the probable role of the polymorphic HIF-1 alpha variants, C1772T (P582S) (rs11549465) and G1790A (A588T) (rs115494657), which are known to enhance transcriptional activity, were evaluated in the etiology of the polycythemia.