Interaction of CARD14, SENP1 and VEGFA polymorphisms on susceptibility to high altitude polycythemia in the Han Chinese population at the Qinghai–Tibetan Plateau

Jiang, Chunhua; Luo, Yi; Liu, Fuyu; Gao, Yuqi

doi:10.1016/j.bcmd.2015.11.005

Cited by 10 publications

(10 citation statements)

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“…It was reported that over 140 million people worldwide permanently live at altitudes >2500 m above sea level. Low ambient temperature and hypobaric hypoxia are two challenges to life at high altitude (HA) [1,2], with an increased risk of thrombotic diseases following prolonged stay at HA [3][4][5][6]. The environmental conditions in HA affect the morphology and phenotype of blood cells [3].…”

Section: Introductionmentioning

confidence: 99%

Correlation between RBC changes and coagulation parameters in high altitude population

Zhang

Yu²,

Shen³

et al. 2019

Hematology

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Objective: To explore the correlations between RBCs indexes and the basic coagulation parameters, and provide data for further studies on high altitude-induced thrombotic disease. Methods: A total of eligible 433 volunteers were divided into different groups according to HGB concentration and HCT, respectively. PT, APTT, TT and Fbg were measured by clotting assays. HGB content, HCT and PLT count were assessed by automated hematology analyzer. Results: APTT and PT were significantly higher in group 4 (high HGB or HCT groups) (p < 0.05 for all comparison) and PLT count was significantly lower in group 4 than in other groups (p < 0.01 for all comparison). APTT and PT showed negative correlations with HGB concentration (r = −0.168 and −0.165 resp.; both p < 0.01), whereas positive correlations were found between APTT and HCT, PT and HCT (r = 0.225 and 0.258, resp.; both p < 0.01). PLT, TT and Fbg showed no correlation with HGB and HCT. Conclusions: HGB and HCT may not correlate with basic coagulation parameters in high altitude population, their predictive value for high altitude-induced thrombotic disease may relatively independent and this remain to be determined in further studies.

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Section: Introductionmentioning

confidence: 99%

Correlation between RBC changes and coagulation parameters in high altitude population

Zhang

Yu²,

Shen³

et al. 2019

Hematology

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“…The common polymorphism of the AGT gene is 235M, which encodes threonine instead of methionine at position 235 in exon 2. Gao et al [ 22 ] reported AGT M235T (rs699) allele was associated with HAPC susceptibility in Chinese Tibetans, the specific genetic mechanism and biological functions has not been reported. However, we did not find this result in both Han and Tibetan populations.…”

Section: Discussionmentioning

confidence: 99%

“…Furthermore, Huynh-Do et al [ 10 ] reported the effect of local renal hypoxia on EPHA2 and EPO regulation, they found EPHA2 increases modulates EPO expression after renal hypoxia injury. Gao et al [ 9 ] identified the rs699 polymorphism in the AGT gene was associated with HAPC susceptibility in Tibetans. Sequenom Mass ARRAY Assay Design 3.0 software was used to design multiplexed SNP Mass EXTEND assay, and SNP genotyping was performed utilizing the Sequenom Mass ARRAY RS1000 recommended by the manufacturer [ 13 ].…”

Section: Methodsmentioning

confidence: 99%

“…Although early studies have reported the genetic basis of HAPC, only some of these genetic factors have been reported, and most studies have focused on high-altitude populations and genes involved in the hypoxia-inducible factor pathway. Growing evidence suggests that the positive directional selection of genes such as EPAS1 , EGLN1 , CARD14 , SENP1 , and VEGFA plays an important role in the adaptation of permanent high altitude natives and migrants [ 7 – 9 ]. Furthermore, we also found several genes and loci which were located chromosome 1.…”

Section: Introductionmentioning

confidence: 99%

“…The AGT (rs699) genotyping of the M235T polymorphism was associated with chronic mountain sickness (CMS) in Tibetan populations living between 3600 and 4400 m, it was significantly associated with oxygen saturation in CMS patients [ 11 ]. Gao et al [ 9 ] reported that AGT 235M allele showed a significant association with risk of HAPC development in Tibetans. Here, we conducted a case-control study to investigate the association of these genes variants with HAPC in Chinese Han and Tibetan populations.…”

Section: Introductionmentioning

confidence: 99%

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Associations of high altitude polycythemia with polymorphisms in EPHA2 and AGT in Chinese Han and Tibetan populations

Liu

Zhang

et al. 2017

Oncotarget

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High altitude polycythemia (HAPC) refers to the long-term living in the plateau of the hypoxia environment is not accustomed to cause red blood cell hyperplasia. The pathological changes are mainly the various organs and tissue congestion, blood stasis and hypoxia damage. Although chronic hypoxia is the main cause of HAPC, the related molecular mechanisms remain largely unclear. This study aims to explore the genetic basis of HAPC in the Chinese Han and Tibetan populations. We enrolled 100 patients (70 Han, 30 Tibetan) with HAPC and 100 healthy control subjects (30 Han, 70 Tibetan). To explore the hereditary basis of HAPC and investigate the association between EPHA2 with AGT and HAPC in Chinese Han and Tibetan populations. Using the Chi-squared test and analyses of genetic models, rs2291804, rs2291805, rs3768294, rs3754334, rs6603856, rs6669624, rs11260742, rs13375644 and rs10907223 in EPHA2, and rs699, rs4762 and rs5051 in AGT showed associations with reduced HAPC susceptibility in Han populations. Additionally, in Tibetan populations, rs2478523 in AGT showed an increased the risk of HAPC. Our study suggest that polymorphisms in the EPHA2 and AGT correlate with susceptibility to HAPC in Chinese Han and Tibetan populations.

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High-altitude adaptation in humans: from genomics to integrative physiology

et al. 2017

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About 1.2 to 33% of high-altitude populations suffer from Monge's disease or chronic mountain sickness (CMS). Number of factors such as age, sex, and population of origin (older, male, Andean) contribute to the percentage reported from a variety of samples. It is estimated that there are around 83 million people who live at altitudes > 2500 m worldwide and are at risk for CMS. In this review, we focus on a human "experiment in nature" in various high-altitude locations in the world-namely, Andean, Tibetan, and Ethiopian populations that have lived under chronic hypoxia conditions for thousands of years. We discuss the adaptive as well as mal-adaptive changes at the genomic and physiological levels. Although different genes seem to be involved in adaptation in the three populations, we can observe convergence at genetic and signaling, as well as physiological levels. What is important is that we and others have shown that lessons learned from the genes mined at high altitude can be helpful in better understanding and treating diseases that occur at sea level. We discuss two such examples: EDNRB and SENP1 and their role in cardiac tolerance and in the polycythemic response, respectively.

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Interaction of CARD14, SENP1 and VEGFA polymorphisms on susceptibility to high altitude polycythemia in the Han Chinese population at the Qinghai–Tibetan Plateau

Cited by 10 publications

References 49 publications

Correlation between RBC changes and coagulation parameters in high altitude population

Correlation between RBC changes and coagulation parameters in high altitude population

Associations of high altitude polycythemia with polymorphisms in EPHA2 and AGT in Chinese Han and Tibetan populations

High-altitude adaptation in humans: from genomics to integrative physiology

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