Skip to main content

Research Repository

Advanced Search

The lack of associations between alleles at the hypoxia-Inducible factor 1A C1772T loci and responses to acute hypoxia

Hennis, Philip J; Bussell, Christopher; Darlison, Mark G


Philip J Hennis

Christopher Bussell

Mark G Darlison



The aim of this study was to investigate the associations between alleles of the hypoxia-inducible factor 1A (HIF1A) C1772T polymorphism and several physiological responses to hypoxia, including the hypoxic ventilatory response (HVR), and serum erythropoietin (EPO), arterial oxygen saturation (Sao2), and acute mountain sickness (AMS) responses during 8 hours of exposure to normobaric hypoxia.

A total of 76 males participated in the study; 52 participants completed an 8-hour exposure to 12.7% oxygen, during which time Sao2, EPO concentrations, and AMS scores were measured, while 62 individuals took part in an HVR trial (in total 38 individuals completed both protocols). DNA was obtained from leukocytes, and a 346-bp fragment of the HIF1A gene containing the C1772T polymorphism was amplified using polymerase chain reaction. Fragments were sequenced to reveal individual genotypes, and the associations between HIF1A genotype and EPO, Sao2, AMS responses to hypoxia and HVR were examined.

The magnitude of the hypoxic responses was highly variable between individuals. The increase in participants' EPO responses ranged from 89% to 388% of baseline values following hypoxia, while Sao2 values during the exposure ranged from 71% to 89%. The HVR ranged from −0.04 to +2.18 L · min−1 · Sao2%−1 among participants. No significant differences in EPO, Sao2, AMS, or HVR results were observed between the HIF1A CC genotype and the combined CT/TT genotype group.

In this study, the HIF1A C1772T polymorphism does not appear to influence EPO, Sao2, or AMS responses during acute hypoxic exposure, or the magnitude of the HVR.


Hennis, P. J., Bussell, C., & Darlison, M. G. (2010). The lack of associations between alleles at the hypoxia-Inducible factor 1A C1772T loci and responses to acute hypoxia. Wilderness and Environmental Medicine, 21, 219-228.

Journal Article Type Article
Publication Date 2010
Deposit Date Mar 13, 2014
Print ISSN 1080-6032
Electronic ISSN 1545-1534
Publisher Elsevier
Peer Reviewed Peer Reviewed
Volume 21
Pages 219-228
Keywords arterial oxygen saturation; erythropoietin; genetics; hypoxia-inducible factor (HIF); hypoxic ventilatory response (HVR); polymorphism;
Public URL
Publisher URL