Genomics & Informatics

Korea Genome Organization (한국유전체학회)
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Association Analysis of TEC Polymorphisms with Aspirin-Exacerbated Respiratory Disease in a Korean Population

  • Lee, Jin Sol (Research Institute for Basic Science, Sogang University) ;
  • Bae, Joon Seol (Laboratory of Translational Genomics, Samsung Genome Institute, Samsung Medical Center) ;
  • Park, Byung-Lae (Department of Genetic Epidemiology, SNP Genetics, Inc.) ;
  • Cheong, Hyun Sub (Department of Genetic Epidemiology, SNP Genetics, Inc.) ;
  • Kim, Jeong-Hyun (Research Institute for Basic Science, Sogang University) ;
  • Kim, Jason Yongha (Department of Life Science, Sogang University) ;
  • Namgoong, Suhg (Department of Life Science, Sogang University) ;
  • Kim, Ji-On (Department of Life Science, Sogang University) ;
  • Park, Choon-Sik (Division of Allergy and Respiratory Medicine, Soonchunhyang University Seoul Hospital) ;
  • Shin, Hyoung Doo (Department of Life Science, Sogang University)
  • Received : 2014.05.02
  • Accepted : 2014.05.26
  • Published : 2014.06.30
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Abstract

The tyrosine-protein kinase Tec (TEC) is a member of non-receptor tyrosine kinases and has critical roles in cell signaling transmission, calcium mobilization, gene expression, and transformation. TEC is also involved in various immune responses, such as mast cell activation. Therefore, we hypothesized that TEC polymorphisms might be involved in aspirin-exacerbated respiratory disease (AERD) pathogenesis. We genotyped 38 TEC single nucleotide polymorphisms in a total of 592 subjects, which comprised 163 AERD cases and 429 aspirin-tolerant asthma controls. Logistic regression analysis was performed to examine the associations between TEC polymorphisms and the risk of AERD in a Korean population. The results revealed that TEC polymorphisms and major haplotypes were not associated with the risk of AERD. In another regression analysis for the fall rate of forced expiratory volume in 1 second ($FEV_1$) by aspirin provocation, two variations (rs7664091 and rs12500534) and one haplotype (TEC_BL2_ht4) showed nominal associations with $FEV_1$ decline (p=0.03-0.04). However, the association signals were not retained after performing corrections for multiple testing. Despite TEC playing an important role in immune responses, the results from the present study suggest that TEC polymorphisms do not affect AERD susceptibility. Findings from the present study might contribute to the genetic etiology of AERD pathogenesis.

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References

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