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Angiotensin converting enzyme insertion allele in relation to high altitude adaptation
Author(s) -
QADAR PASHA M. A.,
KHAN A. P.,
KUMAR R.,
GROVER S. K.,
RAM R. B.,
NORBOO T.,
SRIVASTAVA K. K.,
SELVAMURTHY W.,
BRAHMACHARI S. K.
Publication year - 2001
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1046/j.1469-1809.2001.6560531.x
Subject(s) - genotype , heterozygote advantage , allele , angiotensin converting enzyme , effects of high altitude on humans , polymorphism (computer science) , medicine , hypoxia (environmental) , endocrinology , altitude (triangle) , genetics , enzyme , biology , gene , chemistry , oxygen , biochemistry , geometry , mathematics , organic chemistry , anatomy , blood pressure
Angiotensin converting enzyme ( ACE ) gene I/D polymorphism has been associated with high altitude (HA) disorders as well as physical performance. We, however, envisage that the polymorphism may be associated with adaptation to the hypobaric hypoxia of altitude, thus facilitating physical performance. For this purpose, three unrelated adult male groups, namely (1) the Ladakhis (HLs), who reside at and above a height of 3600 m, (2) lowlanders, who migrated to Ladakh (MLLs), and (3) resident lowlanders (LLs), have been investigated. The HLs had significantly ( p < 0.001) greater numbers of the II homozygotes and the ID heterozygotes than the DD homozygotes, the genotype distribution being 0.46, 0.43 and 0.11 for II, ID and DD genotypes respectively. The MLLs comprised 60% II homozygotes, which was higher ( p < 0.001) than the HLs (46%). In the LLs, the heterozygotes were greater ( p < 0.001) in number than the II and DD homozygotes. The I allele frequency was 0.72 in the MLLs, 0.67 in the HLs and 0.55 in the LLs. Polymorphism study suggested that the II genotype could be associated with altitude adaptation, which might influence physical efficiency.