Polymorphisms of human vascular endothelial growth factor gene in high-altitude pulmonary oedema susceptible subjects.
OBJECTIVE
Based on the reported biological properties and function of vascular endothelial growth factor (VEGF) in hypoxic conditions, many investigations have studied the hypothesis that VEGF has an important role in the pathogenesis of high altitude sicknesses, including high-altitude pulmonary oedema (HAPE). Unfortunately, the results are inconsistent. Therefore, the association of VEGF gene single nucleotide polymorphisms (SNP) with being susceptible to HAPE was investigated.


METHODS
The study included 53 HAPE-susceptible subjects (HAPE-s) and 69 HAPE-resistant mountaineer controls (HAPE-r). Subjects were Japanese and the two groups were comparable in terms of age and gender. The SNP of the VEGF gene, namely C-2578A, G-1154A and T-460C in the promoter, G + 405C in the 5'-untranslated region and C936T in the 3'-untranslated region, were examined by allele discrimination experiments. In addition, arterial oxygen tension (PaO(2)) and pulmonary haemodynamic data were available for 21 of the HAPE-s subjects.


RESULTS
There were no statistically significant differences in the allele frequencies, genotype distributions or haplotype frequencies of VEGF SNP between the HAPE-s and HAPE-r groups. Furthermore, neither PaO(2) nor pulmonary haemodynamic parameters were associated with the VEGF SNP in the 21 HAPE-s subjects.


CONCLUSIONS
This genetic study did not provide evidence that functional SNP of the VEGF gene are associated with susceptibility to HAPE in a Japanese population.
Hanaoka
Masayuki
M
First Department of Medicine, Shinshu University School of Medicine, Matsumoto, Japan. masayuki@hsp.md.shinshu-u.ac.jp
Droma
Yunden
Y
Ota
Masao
M
Ito
Michiko
M
Katsuyama
Yoshihiko
Y
Kubo
Keishi
K
D000064:Acclimatization / Q000235:genetics; D000328:Adult; D000532:Altitude Sickness / Q000208:ethnology / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics; D006801:Humans; D007564:Japan; D008297:Male; D020641:Polymorphism, Single Nucleotide; D011654:Pulmonary Edema / Q000208:ethnology / Q000235:genetics*; D042461:Vascular Endothelial Growth Factor A / Q000235:genetics*
C467484:VEGFA protein, human; D042461:Vascular Endothelial Growth Factor A