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The hypoxic ventilatory response and the
angiotensin converting enzyme (ACE) gene polymorphism in Peruvian Quechua
Kiyamu M.1, Brutsaert, T.1, Bigham A. 2,
Shriver M.D, 2, Parra E. 3, Leon-Velarde F. 4, Rivera M. 4, Chirinos E. 4,
Palacios A. 4.
1 Dept. of Anthropology, University at
Albany, USA; 2 Dept of Anthropology, Pennsylvania State University, USA; 3 Dept
of Anthropology, University of Toronto at Mississauga, Canada; 4 Dept. de
Ciencias Biologicas y Fisiologicas, Universidad Peruana Cayetano Heredia, Lima,
Peru.
mk7246@albany.edu
The ACE gene polymorphism has been
associated with the high altitude (HA) phenotype and the physical ‘performance’
gene in athletes. The I/I allele of the ACE polymorphism have shown to be over
expressed in elite mountaineers and its association with the hypoxic
ventilatory response (HVR) in high altitude natives has also been suggested.
Taken together, studies suggest that the insertion allele of the ACE genotype
could confer an advantage under hypoxic conditions. In order to investigate
whether the ACE genotype is related to the acute hypoxic ventilatory response
(HVR), 141 subjects with both Spanish and Quechua ancestry (n=70 males, n= 71
females) were studied in Peru at sea level and high altitude: in Lima (500m)
and Cerro de Pasco (4,338m), respectively. ACE genotype distribution was: II=
72, ID= 52, DD=13 and HVR was measured for high altitude and sea-level groups.
Ancestry was assessed using 22 informative molecular markers. The total sample
was divided in the I/I allele group and the I/D+D/D group. The latter was
analyzed together due to small number of individuals with D/D genotype (n= 13).
After controlling for confounding factors in the analysis, we found no
significant association between the ACE genotype and the HVR in these samples.
(I/I=0.86±0.059 l/min-1.%SaO2; I/D+D/D =0.72±0.06 l/min-1.%SaO2; p=0.468). In
conclusion, our study found that the ACE gene polymorphism is not associated
with the HVR in high altitude-born or sea-level-born subjects.
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