Studied the association between SNPs around the EGLN1 genomic region possibly involved in high-altitude adaptation and physiological changes to hypobaric hypoxia exposure in a cohort of Japanese lowlanders.
Functionally active PHD2 SNP rs516651 [18] located in the key pathway for the hypoxic-inflammatory response is associated with increased 30-day mortality in Acute Respiratory Distress Syndrome (ARDS) patients. In contrast the PHD2 SNP rs480902 is not. Furthermore the HIF-2alpha SNP [ch2: 46441523(hg18)] GG-genotype was neither present in our ARDS patients of Caucasian heritage nor in healthy Caucasian blood donors.
We genotyped 347 Tibetan individuals from varying altitudes for both the Tibetan-specific EGLN1 haplotype and 10 candidate SNPs in the EPAS1 haplotype and correlated their association with hemoglobin levels.
a genetic link between EGLN1 and VWF in a constitution specific manner which could modulate thrombosis/bleeding susceptibility and outcomes of hypoxia is reported.
Data indicate that the Tibetan prolyl hydroxylase domain protein 2 (PHD2) haplotype (D4E/C127S) strikingly diminishes the interaction of PHD2 with heat shock protein 90 co-chaperone protein p23 (prostaglandin E synthase).
striking enrichment of high-altitude ancestry in the Tibetan genome indicating that migrants from low altitude acquired adaptive alleles from the highlanders
prevalence of the risk alleles in high altitude pulmonary edema and the protective alleles in healthy Lakakhi highland natives have provided us with allelic variants at the same locus that are involved in disease and adaptation
present study indicated that low expression of PHD2 in CRC predicts poor survival independent of HIF-1alpha specifically for patients who have early stage tumors
Heart rate and oxygen saturation level of hemoglobin were found to be significantly associated with the EGLN1 (rs480902) SNP in the Han patients with acute mountain sickness.
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