naa a22 4500 510805698 CHVBK 20180411083417.0 cr unu---uuuuu 180411e20130501xx s 000 0 eng 10.1007/s12576-013-0257-8 doi (NATIONALLICENCE)springer-10.1007/s12576-013-0257-8 VEGFA SNPs and transcriptional factor binding sites associated with high altitude sickness in Han and Tibetan Chinese at the Qinghai-Tibetan Plateau [Elektronische Daten] [Norman Buroker, Xue-Han Ning, Zhao-Nian Zhou, Kui Li, Wei-Jun Cen, Xiu-Feng Wu, Wei-Zhong Zhu, C. Scott, Shi-Han Chen] Mountain sickness (MS) occurs among humans visiting or inhabiting high altitude environments. We conducted genetic analyses of seven single nucleotide polymorphisms (SNPs) in the promoter region of VEGFA gene for lowland (Han) and highland (Tibetan) Chinese. The seven SNPs were evaluated in Han and Tibetan patients with acute (A) and chronic (C) MS. We compared 64 patients with AMS with 64 Han unaffected with MS, as well as 48 CMS patients with 32 unaffected Tibetans. The SNPs studied are rs699947, rs34357231, rs79469752, rs13207351, rs28357093, rs1570360, and rs2010963 which are found in the promoter ranging from −2,578 to −634bp from the transcriptional start site (TSS), respectively. Direct sequencing was used to identify individual genotypes for these SNPs. Arterial oxygen saturation of hemoglobin (SaO2) was found to be significantly associated with the rs699947, rs34357231, rs13207351, and rs1570360 SNPs in Han patients with AMS, while the rs2010963 SNP was found to approach significance in the AMS study group, but found to be significantly associated in the normal Tibetan study group. The Han and Tibetan control groups were found to diverge significantly for the rs28357093 and rs2010963 SNPs, as measured by genetic distances of 0.073 and 0.054, respectively. All the SNPs are found in transcriptional factor binding sites (TFBS), and their possible role in gene regulation was evaluated with regard to MS. MS was found to be significantly associated with these SNPs compared with their Han and Tibetan control groups, indicating that these nucleotide substitutions result in TFBS changes which apparently have a physiological effect on the development of high altitude sickness. The Physiological Society of Japan and Springer Japan, 2013 High altitude sickness nationallicence VEGFA promoter nationallicence SNPs nationallicence Transcriptional factor binding sites nationallicence Buroker Norman Department of Pediatrics, University of Washington, 98195, Seattle, WA, USA aut Ning Xue-Han Division of Cardiology, Seattle Children's Hospital Institute Foundation, 98105, Seattle, WA, USA aut Zhou Zhao-Nian Laboratory of Hypoxia Physiology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, China aut Li Kui People's Hospital of the Tibet Autonomous Region, Lhasa, China aut Cen Wei-Jun People's Hospital of the Tibet Autonomous Region, Lhasa, China aut Wu Xiu-Feng Laboratory of Hypoxia Physiology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, China aut Zhu Wei-Zhong Laboratory of Hypoxia Physiology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, China aut Scott C. Department of Pediatrics, University of Washington, 98195, Seattle, WA, USA aut Chen Shi-Han Department of Pediatrics, University of Washington, 98195, Seattle, WA, USA aut The Journal of Physiological Sciences Springer Japan 63/3(2013-05-01), 183-193 1880-6546 63:3<183 2013 63 12576 https://doi.org/10.1007/s12576-013-0257-8 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s12576-013-0257-8 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Buroker Norman Department of Pediatrics, University of Washington, 98195, Seattle, WA, USA aut NATIONALLICENCE 700 1- Ning Xue-Han Division of Cardiology, Seattle Children's Hospital Institute Foundation, 98105, Seattle, WA, USA aut NATIONALLICENCE 700 1- Zhou Zhao-Nian Laboratory of Hypoxia Physiology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, China aut NATIONALLICENCE 700 1- Li Kui People's Hospital of the Tibet Autonomous Region, Lhasa, China aut NATIONALLICENCE 700 1- Cen Wei-Jun People's Hospital of the Tibet Autonomous Region, Lhasa, China aut NATIONALLICENCE 700 1- Wu Xiu-Feng Laboratory of Hypoxia Physiology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, China aut NATIONALLICENCE 700 1- Zhu Wei-Zhong Laboratory of Hypoxia Physiology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, China aut NATIONALLICENCE 700 1- Scott C. Department of Pediatrics, University of Washington, 98195, Seattle, WA, USA aut NATIONALLICENCE 700 1- Chen Shi-Han Department of Pediatrics, University of Washington, 98195, Seattle, WA, USA aut NATIONALLICENCE 773 0- The Journal of Physiological Sciences Springer Japan 63/3(2013-05-01), 183-193 1880-6546 63:3<183 2013 63 12576 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer