OBJECTIVETo investigate the relationship between heat stress proteins 70 (HSPs70) gene polymorphism and the risk of acute mountain sickness.

METHODSFifty-six soldiers with acute mountain sickness and 173 soldiers without that were chosen as cases and controls. HSP70-1, HSP70-2 genotypes were analyzed by using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique.

RESULTSThe HSP70-1 polymorphism was similar in two groups. The genotype frequency of HSP70-2 B/B in acute mountain sickness group (23.2%) was significantly higher than that in the control (6.9%, P < 0.05, OR = 4.02).

CONCLUSIONThere is a significantly increased association of HSP70-2 B/B genotype with the risk of acute mountain sickness. Individuals with HSP70-2 B/B genotype may have weaker adaptive ability than those without this genotype under altitude stress. The results contribute to provide scientific bases for finding these individuals in specified occupational people, ensuring their health and enhancing work efficiency.

Acute Disease ; Adolescent ; Adult ; Altitude ; Altitude Sickness ; epidemiology ; genetics ; Genotype ; HSP70 Heat-Shock Proteins ; genetics ; Humans ; Male ; Polymorphism, Genetic ; Young Adult

OBJECTIVETo study the selection effect of endothelial PAS domain protein 1 (EPAS1) gene induced by high altitude hypoxia environment.

METHODSFourteen single nucleotide polymorphism sites (SNPs) of the EPAS1 gene were genotyped using PCR-restriction fragment length polymorphism (PCR-RFLP) in three Tibetan groups (58 samples from Tibetan living in an altitude of about 3700 meters above sea level, 47 from Qinghai province, about 3100 meters above sea level, 43 from Yunnan province, about 2500 meters above sea level), and Han of Shandong (47 samples, about 50 meters above sea level).

RESULTSThere were significant differences of most SNP allelic, genotypic and haplotypic frequencies when comparing Han of Shandong, Tibetan of Yunnan with Tibetan of Tibetan and Qinghai. But no difference between Han of Shandong and Tibetan of Yunnan was found.

CONCLUSIONThe EPAS1 gene might be under hypoxic selection induced by high altitude.

Alleles ; Altitude Sickness ; genetics ; Basic Helix-Loop-Helix Transcription Factors ; genetics ; China ; Gene Frequency ; Haplotypes ; Humans ; Hypoxia ; genetics ; Linkage Disequilibrium ; Polymorphism, Single Nucleotide ; genetics

OBJECTIVEHigh altitue pulmonary edema (HAPE) impacts seriously people's health at high altitude. Screening of susceptibility genes for HAPE will be used for the evaluation and protection of susceptible people.

METHODSWe performed a genome-wide association study (GWAS) using Affymetrix SNP array 6.0 in 23 HAPE patients and 17 healthy controls. GO and Pathway analysis softwares were used to analyze and draw gene network.

RESULTSThirty-nine SNPs were found to be significantly different between case and control groups (P < 10(-4)). GO and Pathway analysis of 27 genes around the 39 SNPs indicated that these genes mainly participate in the regulating of cell proliferation, regulation of nitrogen compound metabolic process and G-protein coupled receptor protein signaling pathway and so on.

CONCLUSIONIt suggests that these SNPs and genes found in this study may be associated with the susceptibility of HAPE.

Adult ; Altitude Sickness ; genetics ; Asian Continental Ancestry Group ; genetics ; Case-Control Studies ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Hypertension, Pulmonary ; genetics ; Polymorphism, Single Nucleotide ; Young Adult

Objective: To investigate the gene expression characteristics of peripheral blood mononuclear cells from patients with high altitude pulmonary hypertension (HAPH) in Naxi residents living in Lijiang, Yunnan, and to explore the underlying pathogenesis and value for potential drug selection. Methods: This is a case-control study. Six patients with HPAH (HPAH group) and 4 normal subjects (control group) were selected from the Naxi residents who originally lived in Lijiang, Yunnan Province. The general clinical data of the two groups were collected, and the related indexes of pulmonary artery pressure were collected. Peripheral blood mononuclear cells of the subjects were collected for RNA sequencing. The differences on gene expression, regulatory network of transcription factors and drug similarity between the two groups were compared. The results were compared with the public data of idiopathic pulmonary arterial hypertension (IPAH). Biological processes and signal pathways were analyzed and compared between HPAH and IPAH patients. Results: The age of 6 patients with HAPH was (68.1±8.3) years old, and there were 2 males (2/6). The age of 4 subjects in the control group was (62.3±10.9) years old, and there were 2 males (2/4). Tricuspid regurgitation velocity, tricuspid pressure gradient and pulmonary systolic pressure in HAPH group were significantly higher than those in control group (all P<0.05). The results of RNA sequencing showed that compared with the control group, 174 genes were significantly upregulated and 169 genes were downregulated in peripheral blood mononuclear cells of HAPH group. These differentially expressed genes were associated with 220 biological processes, 52 molecular functions and 23 cell components. A total of 21 biological processes and 2 signal pathways differed between HPAH and IPAH groups, most of which were related to inflammation and immune response. ZNF384, SP1 and STAT3 were selected as highly correlated transcription factors by transcription factor prediction analysis. Trichostatin A and vorinostat were screened out as potential drugs for the treatment of HAPH by drug similarity analysis. Conclusions: There are significant differences in gene expression in peripheral blood monocytes between HAPH patients and normal population, and inflammation and immune dysfunction are the main pathogenic factors. Trichostatin A and Vorinostat are potential drugs for the treatment of HAPH.
Aged ; Altitude ; Altitude Sickness/genetics* ; Case-Control Studies ; China ; Familial Primary Pulmonary Hypertension/genetics* ; Humans ; Hydroxamic Acids/therapeutic use* ; Hypertension, Pulmonary/genetics* ; Inflammation ; Leukocytes, Mononuclear/pathology* ; Male ; Middle Aged ; Transcription Factors ; Transcriptome/genetics* ; Vorinostat/therapeutic use*

OBJECTIVETo explore the relationship between genetic polymorphisms of glutathione S-transferase (GST) M1, T1 and susceptibility to mountain sickness.

METHODSForty-three soldiers with acute mountain sickness and 80 healthy soldiers matching with sex/age and training under the same condition were divided into case group and control group. A multiple polymerase chain reaction method was used to detect GSTM1 and GSTT1 genes in genomic DNA isolated from peripheral blood cells from both cases and controls.

RESULTSThe frequency of the GSTT1 positive genotype was significantly higher in cases (69.8%) than in controls (42.5%) (P = 0.004, OR = 3.12, 95% CI 1.42 approximately 6.86). The frequency of GSTM1 negative genotype was also higher in cases (72.1%) than in controls (52.5%) (P = 0.03, OR = 2.34, 95% CI 1.05 approximately 5.02). Persons with both GSTM1 and GSTT1 negative genotypes had 5-fold more risk than those with GSTT1 negative and GSTM1 positive genotypes in developing mountain sickness (OR = 5.04, 95% CI: 1.00 approximately 25.3).

CONCLUSIONGenetic polymorphisms of glutathione S-transferase M1, T1 may be the risk factors in the development of mountain sickness.

Acute Disease ; Adult ; Altitude Sickness ; genetics ; Case-Control Studies ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Glutathione Transferase ; genetics ; Humans ; Male ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Risk Factors

Adult ; Altitude Sickness ; metabolism ; pathology ; Apoptosis ; BH3 Interacting Domain Death Agonist Protein ; metabolism ; Erythroblasts ; cytology ; pathology ; Humans ; Male ; Middle Aged ; RNA, Messenger ; genetics ; bcl-2-Associated X Protein ; metabolism ; bcl-X Protein ; metabolism