Variants of the Low Oxygen Sensors EGLN1 and HIF-1AN Associated with Acute Mountain SicknessReportar como inadecuado




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Institute of Cardiovascular Diseases of Peoples Liberation Army, Department of Cardiology, Xinqiao Hospital, Third Military Medical University, Chongqing 400037, China





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Abstract Two low oxygen sensors, Egl nine homolog 1 EGLN1 and hypoxia-inducible factor 1-α inhibitor HIF-1AN, play pivotal roles in the regulation of HIF-1α, and high altitude adaption may be involved in the pathology of acute mountain sickness AMS. Here, we aimed to analyze single nucleotide polymorphisms SNPs in the untranslated regions of the EGLN1 and HIF-1AN genes and SNPs chosen from a genome-wide adaptation study of the Han Chinese population. To assess the association between EGLN1 and HIF-1AN SNPs and AMS in a Han Chinese population, a case–control study was performed including 190 patients and 190 controls. In total, thirteen SNPs were genotyped using the MassARRAY® MALDI-TOF system. Multiple genetic models were tested; The Akaike’s information criterion AIC and Bayesian information criterion BIC values indicated that the dominant model may serve as the best-fit model for rs12406290 and rs2153364 of significant difference. However, these data were not significant after Bonferroni correction. No significant association was noted between AMS and rs12757362, rs1339894, rs1361384, rs2009873, rs2739513 or rs2486729 before and after Bonferroni correction. Further haplotype analyses indicated the presence of two blocks in EGLN1; one block consists of rs12406290-rs2153364, located upstream of the EGLN1 gene. Carriers of the -GG- haplotype of rs12406290-rs2153364 exhibited an increased risk of AMS after adjustments for age and smoking status. However, no significant association was observed among HIF-1AN 3-untranslated region 3-UTR polymorphisms, haplotype and AMS. Our study indicates that variants in the EGLN1 5-UTR influence the susceptibility to AMS in a Han Chinese population. View Full-Text

Keywords: acute mountain sickness; Egl nine homolog 1 EGLN1; hypoxia-inducible factor 1-α inhibitor HIF-1AN; single nucleotide polymorphism; haplotype acute mountain sickness; Egl nine homolog 1 EGLN1; hypoxia-inducible factor 1-α inhibitor HIF-1AN; single nucleotide polymorphism; haplotype





Autor: Enhao Zhang, Jihang Zhang, Jun Jin, Jun Qin, Huijie Li and Lan Huang *

Fuente: http://mdpi.com/



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