Endothelial nitric oxide synthase gene polymorphisms associated with susceptibility to high altitude pulmonary edema in Chinese railway construction workers at Qinghai-Tibet over 4 500 meters above sea level / 中国医学科学杂志(英文版)
Sun YU-JING; Fang MING-WU; Niu WEN-QUAN; Li GUANG-PING; Liu JING-LIANG; Ding SHOU-QUAN; Xu YING; Yu GUO-SHU; Dong JIAN-QUN; Pan YUN-JUN; Dong WEI-YA; Wang TIAN; Cao JING-WEN; Li XIAO-BO; Wang ZHONG-XIANG; Yu GUANG-XUE; Sun HUI-CHENG; Jia ZHONG-HOU; Liu JUN; Wang XIAO-MING; Si QIN; Wu QI-XIA; Zhou WEN-YU; Zhu TONG-CHUN; Qiu CHANG-CHUN.
Chinese Medical Sciences Journal
; (4): 215-221, 2010.
Artículo
en Inglés
| WPRIM | ID: wpr-299428
<p><b>OBJECTIVE</b>To examine whether the polymorphisms of endothelial nitric oxide synthase (eNOS) gene are associated with the susceptibility to high altitude pulmonary edema (HAPE) in Chinese railway construction workers at Qinghai-Tibet where the altitude is over 4 500 m above sea level.</p><p><b>METHODS</b>A case-control study was conducted including 149 HAPE patients in the construction workers and 160 healthy controls randomly recruited from their co-workers, matching the patients in ethnicity, age, sex, lifestyle, and working conditions. Three polymorphisms of eNOS gene, T-786C in promoter, 894G/T in exon 7, and 27bp variable number tandem repeat (VNTR) in intron 4, were genotyped using polymerase chain reaction (PCR) and confirmed with DNA sequencing.</p><p><b>RESULTS</b>The frequencies of 894T allele and heterozygous G/T of the 894G/T variant were significantly higher in HAPE patients group than in the control group (P=0.0028 and P=0.0047, respectively). However, the frequencies of the T-786C in promoter and the 27bp VNTR in intron 4 were not significantly different between the two groups. Haplotypic analysis revealed that the frequencies of two haplotypes (H3,T-T-b, b indicates 5 repeats of 27 bp VNTR; H6, C-G-a, a indicates 4 repeats of 27 bp VNTR) were significantly higher in HAPE patients (both Pü0.0001). On the contrary, the frequencies of H1 (T-G-b) and H2 (T-G-a) were lower in HAPE patients than in healthy controls (both Pü0.001).</p><p><b>CONCLUSIONS</b>Two haplotypes (T-T-b and C-G-a) may be strongly associated with susceptibility to HAPE. Compared with the individual alleles of eNOS gene, the interaction of multiple genetic markers within a haplotype may be a major determinant for the susceptibility to HAPE.</p>
Biblioteca responsable:
WPRO
Texto completo
Documentos relacionados