Genomics & Informatics

Korea Genome Organization (한국유전체학회)
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Association Analysis of Reactive Oxygen Species-Hypertension Genes Discovered by Literature Mining

  • Lim, Ji Eun (Department of Biomedical Engineering, Kyung Hee University School of Medicine) ;
  • Hong, Kyung-Won (Division of Epidemiology and Health Index, Center for Genome Science, Korea National Institute of Health, Korea Centers for Disease Control and Prevention) ;
  • Jin, Hyun-Seok (Department of Medical Genetics, Ajou University School of Medicine) ;
  • Oh, Bermseok (Department of Biomedical Engineering, Kyung Hee University School of Medicine)
  • Received : 2012.11.02
  • Accepted : 2012.11.15
  • Published : 2012.12.31
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Abstract

Oxidative stress, which results in an excessive product of reactive oxygen species (ROS), is one of the fundamental mechanisms of the development of hypertension. In the vascular system, ROS have physical and pathophysiological roles in vascular remodeling and endothelial dysfunction. In this study, ROS-hypertension-related genes were collected by the biological literature-mining tools, such as SciMiner and gene2pubmed, in order to identify the genes that would cause hypertension through ROS. Further, single nucleotide polymorphisms (SNPs) located within these gene regions were examined statistically for their association with hypertension in 6,419 Korean individuals, and pathway enrichment analysis using the associated genes was performed. The 2,945 SNPs of 237 ROS-hypertension genes were analyzed, and 68 genes were significantly associated with hypertension (p < 0.05). The most significant SNP was rs2889611 within MAPK8 (p = $2.70{\times}10^{-5}$; odds ratio, 0.82; confidence interval, 0.75 to 0.90). This study demonstrates that a text mining approach combined with association analysis may be useful to identify the candidate genes that cause hypertension through ROS or oxidative stress.

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References

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