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P. R. Buckland, “The Importance and Identification of Regulatory Polymorphisms and Their Mechanisms of Action,” Biochimica et Biophysica Acta (BBA)—Molecular Basis of Disease, Vol. 1762, No. 1, 2006, pp. 17-28. doi:10.1016/j.bbadis.2005.10.004

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• TITLE: SNPs and TFBS Associated with High Altitude Sickness*

  AUTHORS: Norman E. Buroker, Xuehan Ning, Zhaonian Zhou, Kui Li, Weijun Cen, Xiufeng Wu, Weizhong Zhu, C. Ronald Scott, Shihan Chen

  KEYWORDS: High Altitude Sickness; rSNPs; TFBS

  JOURNAL NAME: Open Journal of Blood Diseases, Vol.3 No.3, September 16, 2013

  ABSTRACT: The rSNPs for the genes AKT3 (rs4590656), EGLN1 (rs480902), eNOS3 (rs1007311), and VEGFA (rs699947, rs13207311, rs1570360, rs2010963) have been significantly associated with the physiological parameters in high altitude sickness Han or Tibetan Chinese patients at the Qinghai-Tibetan plateau. The alleles of each rSNP have been found to create unique transcriptional factor binding sites for transcription factors that affect the process of hypoxia gene expression in this high altitude hypoxia environment.