The Korean journal of internal medicine

  • 제30권3호
  • /
  • Pages.294-304
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  • 2015
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  • 1226-3303(pISSN)
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  • 2005-6648(eISSN)
대한내과학회 (The Korean Association of Internal Medicine)
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DOI QR코드

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Clinical implications of copy number variations in autoimmune disorders

  • Yim, Seon-Hee (Department of Medical Education, College of Medicine, The Catholic University of Korea) ;
  • Jung, Seung-Hyun (Integrated Research Center for Genome Polymorphism, College of Medicine, The Catholic University of Korea) ;
  • Chung, Boram (Integrated Research Center for Genome Polymorphism, College of Medicine, The Catholic University of Korea) ;
  • Chung, Yeun-Jun (Integrated Research Center for Genome Polymorphism, College of Medicine, The Catholic University of Korea)
  • 투고 : 2015.03.25
  • 심사 : 2015.03.30
  • 발행 : 2015.05.01
⟨ 이전 논문 다음 논문 ⟩

초록

Human genetic variation is represented by the genetic differences both within and among populations, and most genetic variants do not cause overt diseases but contribute to disease susceptibility and influence drug response. During the last century, various genetic variants, such as copy number variations (CNVs), have been associated with diverse human disorders. Here, we review studies on the associations between CNVs and autoimmune diseases to gain some insight. First, some CNV loci are commonly implicated in various autoimmune diseases, such as $Fc{\gamma}$ receptors in patients with systemic lupus erythemoatosus or idiopathic thrombocytopenic purpura and ${\beta}-defensin$ genes in patients with psoriasis or Crohn's disease. This means that when a CNV locus is associated with a particular autoimmune disease, we should examine its potential associations with other diseases. Second, interpopulation or interethnic differences in the effects of CNVs on phenotypes exist, including disease susceptibility, and evidence suggests that CNVs are important to understand susceptibility to and pathogenesis of autoimmune diseases. However, many findings need to be replicated in independent populations and different ethnic groups. The validity and reliability of detecting CNVs will improve quickly as genotyping technology advances, which will support the required replication.

키워드

과제정보

연구 과제 주관 기관 : Ministry for Health and Welfare

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