SNPs and TFBS Associated with High Altitude Sickness

• 作者: C. Ronald Scott Kui Li Norman E. Buroker Shihan Chen Weijun Cen Weizhong Zhu Xiufeng Wu Xuehan Ning Zhaonian Zhou
• 来源期刊: 血液病期刊(英文)
• 学科: 医学
• 关键词: HIGH ALTITUDE SICKNESS rSNPs TFBS
• 年，卷（期）: 2013,（3）
• 页码范围: 85-93
• 页数: 9页
• 分类号: R5

摘要

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.