Polymorphisms of Hypoxia-Related Genes in Subjects Susceptible to Acute Mountain Sickness
Background: The occurrence of acute mountain sickness (AMS), which develops in some individuals who ascend to altitudes above 2,500 m, may be associated with 4 hypoxia-related genes (HIF-1, VEGFA, HSP-70 and eNOS). Objectives: The aim of our study was to investigate the potential role of the 4 hypox...
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| Veröffentlicht in: | Respiration 2011-02, Vol.81 (3), p.236-241 |
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| creator | Ding, Hui Liu, Qiuling Hua, Minglei Ding, Mengjiang Du, Haike Zhang, Weilong Li, Zengde Zhang, Jianpeng |
| description | Background: The occurrence of acute mountain sickness (AMS), which develops in some individuals who ascend to altitudes above 2,500 m, may be associated with 4 hypoxia-related genes (HIF-1, VEGFA, HSP-70 and eNOS). Objectives: The aim of our study was to investigate the potential role of the 4 hypoxia-related genes in AMS pathogenesis. We therefore evaluated single-nucleotide polymorphisms (SNPs) of the genes in an association study using a case-control design. Methods: At an altitude of 4,600 m, 64 male Chinese patients with AMS, defined according to the Lake Louise consensus criteria, were compared to 64 Chinese men free of symptoms of AMS. Clinical data, such as age, history of diseases, oxygen saturation (SpO 2 ) and heart rate, were obtained. Genotypes of selected SNPs of these genes in patients were compared with those in controls. Results: The mean SpO 2 and heart rate of the AMS and control groups were similar before ascent to high altitude (p = 0.79, p = 0.62) but, 24 h after ascent, the mean SpO 2 of the AMS group was significantly lower than that of the control group (p = 0.001), and the mean heart rate of the AMS group was significantly higher than that of the control group (p = 0.001). Twenty-eight of the 48 SNPs investigated were successfully genotyped, and SNP allele frequencies were obtained. The rs3025039 SNP and the haplotype (rs1413711, rs833070 and rs3025000) in the VEGFA gene were significantly associated with AMS (p = 0.0435 and 0.024, respectively). Conclusions: Our study demonstrates a possible association between the VEGFA gene and AMS. We conclude that VEGFA may have an important role in the AMS process. |
| doi_str_mv | 10.1159/000322850 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmed_primary_21242666</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2291357631</sourcerecordid><originalsourceid>FETCH-LOGICAL-c430t-bf61d063abfb416d5d61fc0ebeabbd0cd7ebeee75c91857415a71bee8be10c513</originalsourceid><addsrcrecordid>eNp90U1v1DAQBmALgehSOHBHKEJCbQ-BGTt2nGNV0RapCMTHgVNkOxPINolTO5HYf49Xu10kDj15ZD1-betl7CXCO0RZvQcAwbmW8IitsOAiByHVY7YC4DIvK4FH7FmMawCUWvOn7IgjL7hSasV-fvH9ZvBh-t3FIWa-za43k__Tmfwr9WamJruikWLWjdm3xa7JzTEN0dE0d7anbPbZuVtmyj75ZZzNlnXuNp2Iz9mT1vSRXuzXY_bj8sP3i-v85vPVx4vzm9wVAubctgobUMLY1haoGtkobB2QJWNtA64p00hUSlehlmWB0pSYdrQlBCdRHLOTXe4U_N1Cca6HLr2v781Ifom1loVUpeCQ5OmDEgHLSpdCykTf_EfXfglj-kfKUxoQK53Q2Q654GMM1NZT6AYTNimp3hZTH4pJ9vU-cLEDNQd530QCb_fARGf6NpjRdfGfExXoArbu1c7dmvCLwgHs7_kLKvCeEA</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>856801198</pqid></control><display><type>article</type><title>Polymorphisms of Hypoxia-Related Genes in Subjects Susceptible to Acute Mountain Sickness</title><source>MEDLINE</source><source>Karger Journals</source><source>Alma/SFX Local Collection</source><creator>Ding, Hui ; Liu, Qiuling ; Hua, Minglei ; Ding, Mengjiang ; Du, Haike ; Zhang, Weilong ; Li, Zengde ; Zhang, Jianpeng</creator><creatorcontrib>Ding, Hui ; Liu, Qiuling ; Hua, Minglei ; Ding, Mengjiang ; Du, Haike ; Zhang, Weilong ; Li, Zengde ; Zhang, Jianpeng</creatorcontrib><description>Background: The occurrence of acute mountain sickness (AMS), which develops in some individuals who ascend to altitudes above 2,500 m, may be associated with 4 hypoxia-related genes (HIF-1, VEGFA, HSP-70 and eNOS). Objectives: The aim of our study was to investigate the potential role of the 4 hypoxia-related genes in AMS pathogenesis. We therefore evaluated single-nucleotide polymorphisms (SNPs) of the genes in an association study using a case-control design. Methods: At an altitude of 4,600 m, 64 male Chinese patients with AMS, defined according to the Lake Louise consensus criteria, were compared to 64 Chinese men free of symptoms of AMS. Clinical data, such as age, history of diseases, oxygen saturation (SpO 2 ) and heart rate, were obtained. Genotypes of selected SNPs of these genes in patients were compared with those in controls. Results: The mean SpO 2 and heart rate of the AMS and control groups were similar before ascent to high altitude (p = 0.79, p = 0.62) but, 24 h after ascent, the mean SpO 2 of the AMS group was significantly lower than that of the control group (p = 0.001), and the mean heart rate of the AMS group was significantly higher than that of the control group (p = 0.001). Twenty-eight of the 48 SNPs investigated were successfully genotyped, and SNP allele frequencies were obtained. The rs3025039 SNP and the haplotype (rs1413711, rs833070 and rs3025000) in the VEGFA gene were significantly associated with AMS (p = 0.0435 and 0.024, respectively). Conclusions: Our study demonstrates a possible association between the VEGFA gene and AMS. We conclude that VEGFA may have an important role in the AMS process.</description><identifier>ISSN: 0025-7931</identifier><identifier>EISSN: 1423-0356</identifier><identifier>DOI: 10.1159/000322850</identifier><identifier>PMID: 21242666</identifier><identifier>CODEN: RESPBD</identifier><language>eng</language><publisher>Basel, Switzerland: Karger</publisher><subject>Adolescent ; Age ; Altitude ; Altitude Sickness - genetics ; Asian Continental Ancestry Group ; Basic Science Investigations ; Biological and medical sciences ; Case-Control Studies ; China ; Data processing ; Gene frequency ; Gene polymorphism ; Genes ; Genetic Predisposition to Disease ; Haplotypes ; Heart rate ; HSP70 Heat-Shock Proteins - genetics ; Humans ; Hypoxia ; Hypoxia - genetics ; Hypoxia-Inducible Factor 1 - genetics ; Lakes ; Male ; Medical disorders ; Medical sciences ; Military Personnel ; Mountains ; Nitric Oxide Synthase Type III - genetics ; Oxygen ; Pathogenesis ; Pneumology ; Polymorphism, Single Nucleotide ; Respiration ; Single-nucleotide polymorphism ; Vascular Endothelial Growth Factor A - genetics ; Young Adult</subject><ispartof>Respiration, 2011-02, Vol.81 (3), p.236-241</ispartof><rights>2011 S. Karger AG, Basel</rights><rights>2015 INIST-CNRS</rights><rights>Copyright © 2011 S. Karger AG, Basel.</rights><rights>Copyright (c) 2011 S. Karger AG, Basel</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c430t-bf61d063abfb416d5d61fc0ebeabbd0cd7ebeee75c91857415a71bee8be10c513</citedby><cites>FETCH-LOGICAL-c430t-bf61d063abfb416d5d61fc0ebeabbd0cd7ebeee75c91857415a71bee8be10c513</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,2428,27923,27924</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=23908406$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21242666$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ding, Hui</creatorcontrib><creatorcontrib>Liu, Qiuling</creatorcontrib><creatorcontrib>Hua, Minglei</creatorcontrib><creatorcontrib>Ding, Mengjiang</creatorcontrib><creatorcontrib>Du, Haike</creatorcontrib><creatorcontrib>Zhang, Weilong</creatorcontrib><creatorcontrib>Li, Zengde</creatorcontrib><creatorcontrib>Zhang, Jianpeng</creatorcontrib><title>Polymorphisms of Hypoxia-Related Genes in Subjects Susceptible to Acute Mountain Sickness</title><title>Respiration</title><addtitle>Respiration</addtitle><description>Background: The occurrence of acute mountain sickness (AMS), which develops in some individuals who ascend to altitudes above 2,500 m, may be associated with 4 hypoxia-related genes (HIF-1, VEGFA, HSP-70 and eNOS). Objectives: The aim of our study was to investigate the potential role of the 4 hypoxia-related genes in AMS pathogenesis. We therefore evaluated single-nucleotide polymorphisms (SNPs) of the genes in an association study using a case-control design. Methods: At an altitude of 4,600 m, 64 male Chinese patients with AMS, defined according to the Lake Louise consensus criteria, were compared to 64 Chinese men free of symptoms of AMS. Clinical data, such as age, history of diseases, oxygen saturation (SpO 2 ) and heart rate, were obtained. Genotypes of selected SNPs of these genes in patients were compared with those in controls. Results: The mean SpO 2 and heart rate of the AMS and control groups were similar before ascent to high altitude (p = 0.79, p = 0.62) but, 24 h after ascent, the mean SpO 2 of the AMS group was significantly lower than that of the control group (p = 0.001), and the mean heart rate of the AMS group was significantly higher than that of the control group (p = 0.001). Twenty-eight of the 48 SNPs investigated were successfully genotyped, and SNP allele frequencies were obtained. The rs3025039 SNP and the haplotype (rs1413711, rs833070 and rs3025000) in the VEGFA gene were significantly associated with AMS (p = 0.0435 and 0.024, respectively). Conclusions: Our study demonstrates a possible association between the VEGFA gene and AMS. We conclude that VEGFA may have an important role in the AMS process.</description><subject>Adolescent</subject><subject>Age</subject><subject>Altitude</subject><subject>Altitude Sickness - genetics</subject><subject>Asian Continental Ancestry Group</subject><subject>Basic Science Investigations</subject><subject>Biological and medical sciences</subject><subject>Case-Control Studies</subject><subject>China</subject><subject>Data processing</subject><subject>Gene frequency</subject><subject>Gene polymorphism</subject><subject>Genes</subject><subject>Genetic Predisposition to Disease</subject><subject>Haplotypes</subject><subject>Heart rate</subject><subject>HSP70 Heat-Shock Proteins - genetics</subject><subject>Humans</subject><subject>Hypoxia</subject><subject>Hypoxia - genetics</subject><subject>Hypoxia-Inducible Factor 1 - genetics</subject><subject>Lakes</subject><subject>Male</subject><subject>Medical disorders</subject><subject>Medical sciences</subject><subject>Military Personnel</subject><subject>Mountains</subject><subject>Nitric Oxide Synthase Type III - genetics</subject><subject>Oxygen</subject><subject>Pathogenesis</subject><subject>Pneumology</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Respiration</subject><subject>Single-nucleotide polymorphism</subject><subject>Vascular Endothelial Growth Factor A - genetics</subject><subject>Young Adult</subject><issn>0025-7931</issn><issn>1423-0356</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNp90U1v1DAQBmALgehSOHBHKEJCbQ-BGTt2nGNV0RapCMTHgVNkOxPINolTO5HYf49Xu10kDj15ZD1-betl7CXCO0RZvQcAwbmW8IitsOAiByHVY7YC4DIvK4FH7FmMawCUWvOn7IgjL7hSasV-fvH9ZvBh-t3FIWa-za43k__Tmfwr9WamJruikWLWjdm3xa7JzTEN0dE0d7anbPbZuVtmyj75ZZzNlnXuNp2Iz9mT1vSRXuzXY_bj8sP3i-v85vPVx4vzm9wVAubctgobUMLY1haoGtkobB2QJWNtA64p00hUSlehlmWB0pSYdrQlBCdRHLOTXe4U_N1Cca6HLr2v781Ifom1loVUpeCQ5OmDEgHLSpdCykTf_EfXfglj-kfKUxoQK53Q2Q654GMM1NZT6AYTNimp3hZTH4pJ9vU-cLEDNQd530QCb_fARGf6NpjRdfGfExXoArbu1c7dmvCLwgHs7_kLKvCeEA</recordid><startdate>201102</startdate><enddate>201102</enddate><creator>Ding, Hui</creator><creator>Liu, Qiuling</creator><creator>Hua, Minglei</creator><creator>Ding, Mengjiang</creator><creator>Du, Haike</creator><creator>Zhang, Weilong</creator><creator>Li, Zengde</creator><creator>Zhang, Jianpeng</creator><general>Karger</general><general>S. Karger AG</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7RQ</scope><scope>7RV</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>K9.</scope><scope>KB0</scope><scope>M0S</scope><scope>M1P</scope><scope>M2O</scope><scope>MBDVC</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>U9A</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>201102</creationdate><title>Polymorphisms of Hypoxia-Related Genes in Subjects Susceptible to Acute Mountain Sickness</title><author>Ding, Hui ; Liu, Qiuling ; Hua, Minglei ; Ding, Mengjiang ; Du, Haike ; Zhang, Weilong ; Li, Zengde ; Zhang, Jianpeng</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c430t-bf61d063abfb416d5d61fc0ebeabbd0cd7ebeee75c91857415a71bee8be10c513</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Adolescent</topic><topic>Age</topic><topic>Altitude</topic><topic>Altitude Sickness - genetics</topic><topic>Asian Continental Ancestry Group</topic><topic>Basic Science Investigations</topic><topic>Biological and medical sciences</topic><topic>Case-Control Studies</topic><topic>China</topic><topic>Data processing</topic><topic>Gene frequency</topic><topic>Gene polymorphism</topic><topic>Genes</topic><topic>Genetic Predisposition to Disease</topic><topic>Haplotypes</topic><topic>Heart rate</topic><topic>HSP70 Heat-Shock Proteins - genetics</topic><topic>Humans</topic><topic>Hypoxia</topic><topic>Hypoxia - genetics</topic><topic>Hypoxia-Inducible Factor 1 - genetics</topic><topic>Lakes</topic><topic>Male</topic><topic>Medical disorders</topic><topic>Medical sciences</topic><topic>Military Personnel</topic><topic>Mountains</topic><topic>Nitric Oxide Synthase Type III - genetics</topic><topic>Oxygen</topic><topic>Pathogenesis</topic><topic>Pneumology</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Respiration</topic><topic>Single-nucleotide polymorphism</topic><topic>Vascular Endothelial Growth Factor A - genetics</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ding, Hui</creatorcontrib><creatorcontrib>Liu, Qiuling</creatorcontrib><creatorcontrib>Hua, Minglei</creatorcontrib><creatorcontrib>Ding, Mengjiang</creatorcontrib><creatorcontrib>Du, Haike</creatorcontrib><creatorcontrib>Zhang, Weilong</creatorcontrib><creatorcontrib>Li, Zengde</creatorcontrib><creatorcontrib>Zhang, Jianpeng</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Career & Technical Education Database</collection><collection>Nursing & Allied Health Database</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Research Library</collection><collection>Research Library (Corporate)</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Respiration</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ding, Hui</au><au>Liu, Qiuling</au><au>Hua, Minglei</au><au>Ding, Mengjiang</au><au>Du, Haike</au><au>Zhang, Weilong</au><au>Li, Zengde</au><au>Zhang, Jianpeng</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Polymorphisms of Hypoxia-Related Genes in Subjects Susceptible to Acute Mountain Sickness</atitle><jtitle>Respiration</jtitle><addtitle>Respiration</addtitle><date>2011-02</date><risdate>2011</risdate><volume>81</volume><issue>3</issue><spage>236</spage><epage>241</epage><pages>236-241</pages><issn>0025-7931</issn><eissn>1423-0356</eissn><coden>RESPBD</coden><abstract>Background: The occurrence of acute mountain sickness (AMS), which develops in some individuals who ascend to altitudes above 2,500 m, may be associated with 4 hypoxia-related genes (HIF-1, VEGFA, HSP-70 and eNOS). Objectives: The aim of our study was to investigate the potential role of the 4 hypoxia-related genes in AMS pathogenesis. We therefore evaluated single-nucleotide polymorphisms (SNPs) of the genes in an association study using a case-control design. Methods: At an altitude of 4,600 m, 64 male Chinese patients with AMS, defined according to the Lake Louise consensus criteria, were compared to 64 Chinese men free of symptoms of AMS. Clinical data, such as age, history of diseases, oxygen saturation (SpO 2 ) and heart rate, were obtained. Genotypes of selected SNPs of these genes in patients were compared with those in controls. Results: The mean SpO 2 and heart rate of the AMS and control groups were similar before ascent to high altitude (p = 0.79, p = 0.62) but, 24 h after ascent, the mean SpO 2 of the AMS group was significantly lower than that of the control group (p = 0.001), and the mean heart rate of the AMS group was significantly higher than that of the control group (p = 0.001). Twenty-eight of the 48 SNPs investigated were successfully genotyped, and SNP allele frequencies were obtained. The rs3025039 SNP and the haplotype (rs1413711, rs833070 and rs3025000) in the VEGFA gene were significantly associated with AMS (p = 0.0435 and 0.024, respectively). Conclusions: Our study demonstrates a possible association between the VEGFA gene and AMS. We conclude that VEGFA may have an important role in the AMS process.</abstract><cop>Basel, Switzerland</cop><pub>Karger</pub><pmid>21242666</pmid><doi>10.1159/000322850</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adolescent Age Altitude Altitude Sickness - genetics Asian Continental Ancestry Group Basic Science Investigations Biological and medical sciences Case-Control Studies China Data processing Gene frequency Gene polymorphism Genes Genetic Predisposition to Disease Haplotypes Heart rate HSP70 Heat-Shock Proteins - genetics Humans Hypoxia Hypoxia - genetics Hypoxia-Inducible Factor 1 - genetics Lakes Male Medical disorders Medical sciences Military Personnel Mountains Nitric Oxide Synthase Type III - genetics Oxygen Pathogenesis Pneumology Polymorphism, Single Nucleotide Respiration Single-nucleotide polymorphism Vascular Endothelial Growth Factor A - genetics Young Adult |
| title | Polymorphisms of Hypoxia-Related Genes in Subjects Susceptible to Acute Mountain Sickness |
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