Journal of Clinical & Medical Genomics

Kui Li

Publications

• Research Article
  SNPs, Linkage Disequilibrium and Transcriptional Factor Binding Sites Associated with Acute Mountain Sickness among Han Chinese at the Qinghai-Tibetan Plateau
  Author(s): Norman E Buroker, Xue-Han Ning, Kui Li, Zhao-Nian Zhou, Wei-Jun Cen, Xiu-Feng Wu, Wei-Zhong Zhu, C Ronald Scott and Shi-Han ChenNorman E Buroker, Xue-Han Ning, Kui Li, Zhao-Nian Zhou, Wei-Jun Cen, Xiu-Feng Wu, Wei-Zhong Zhu, C Ronald Scott and Shi-Han Chen
  
  Acute mountain sickness (AMS) occurs in up to 50% of individuals ascending to high altitudes greater than 2600 meters. An AMS Han Chinese and a normal Han group were compared for 17 simple nucleotide polymorphisms (SNPs) within 9 genes that have been associated with AMS. The SNPs were analyzed with respect to linkage disequilibrium (LD) between intra- and intergenic SNP alleles and alterations in transcriptional factor binding sites (TFBS). Included in the study was the angiotensin-converting enzyme (ACE) (rs4340), the angiotensinogen (AGT) (rs699) and the angotensin II type 1 receptor (AGTR1) (rs5186) SNPs from the renin-angiotension system (RAS) as well as the GNB3 (rs2071057) SNP from G-protein signaling and a LDL apolipoprotein B (APOB) (rs693) SNP. The endothetal Per-Arnt-Sim (PAS) domain protein 1 (EPAS1) SNP and two egl nine homolog 1 (EGLN1) SNPS (rs480902 and rs516651) from t.. Read More»
  DOI: 10.4172/2472-128X.1000120

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