Correlation between single nucleotide polymorphisms in hypoxia-related genes and susceptibility to acute high-altitude pulmonary edema

Autor: Li Zq, Wu Al, Wu Lj, Liu Yg, Xiong Ys, Quan Q
Rok vydání: 2015
Předmět:
Aldosterone synthase
Vascular Endothelial Growth Factor A
Heterozygote
DNA Mutational Analysis
Molecular Sequence Data
Single-nucleotide polymorphism
Pulmonary Edema
Peptidyl-Dipeptidase A
Polymorphism
Single Nucleotide
Prolyl Hydroxylases
Gene Frequency
Genotype
High-altitude pulmonary edema
Plasminogen Activator Inhibitor 1
Genetics
medicine
SNP
Humans
Genetic Predisposition to Disease
HSP70 Heat-Shock Proteins
Hypoxia
Promoter Regions
Genetic
Molecular Biology
Allele frequency
Alleles
Tumor Necrosis Factor alpha-Induced Protein 3
biology
Base Sequence
Pulmonary Surfactant-Associated Protein A
Altitude
Homozygote
Intracellular Signaling Peptides and Proteins
NF-kappa B
Nuclear Proteins
General Medicine
medicine.disease
Molecular biology
Genotype frequency
DNA-Binding Proteins
Genetic Loci
Acute Disease
biology.protein
Nitric Oxide Synthase
EGLN1
Zdroj: Genetics and molecular research : GMR. 14(3)
ISSN: 1676-5680
Popis: This study aimed to explore the relationship between genetic changes and high-altitude pulmonary edema (HAPE) susceptibility, and to screen for the key single nucleotide polymorphism (SNP) loci in the HAPE-susceptibility gene, by investigating the SNPs occurring in hypoxia-related genes in HAPE-susceptible and control (non-susceptible) populations. This research was conducted on Han recruits, who travelled to the Lhasa plateau (altitude, 3658 m). Ten loci located on ten genes extracted from the HAPE and healthy populations were amplified by polymerase chain reaction, and subsequently sequenced. The investigated genes included those coding for aldosterone synthase 2 (CYP11B2), angiotensin-converting enzyme (ACE), heat-shock protein 70 (HSP70), nuclear factor kappa B (NF-κB), surfactant protein A2 (SP-A2), plasminogen activator inhibitor-1 (PAI-1), nitric oxide synthetase (NOS), vascular endothelial growth factor (VEGF), prolyl hydroxylase (EGLN1), and zinc finger protein A20. The gene distribution of each SNP loci and its correlation with HAPE was analyzed. Statistical analyses of the genotype frequencies of the SNPs revealed significant differences in the ACE (rs4309), EGLN1 (rs480902), SP-A2 (rs1965708), HSP70 (rs1008438), PAI-1 (rs1799889), and NOS (rs199983) expressions between the HAPE and healthy control groups (P < 0.05); therefore, these SNP loci were believed to indicate HAPE susceptibility. HAPE is correlated with multiple- SNP loci. A correlation analysis between genetic polymorphism and HAPE susceptibility revealed that 6 hypoxia-related genes were key sites accounting for HAPE. These findings could help assess the risk of HAPE in populations expressing different genotypes, in order to reduce the occurrence of HAPE.
Databáze: OpenAIRE
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