The Korean Journal of Medicine

The Korean Association of Internal Medicine (대한내과학회)
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Genetic susceptibility factors of rheumatoid arthritis

류마티스관절염의 유전적 요인

Lee, Hye-Soon
이혜순

  • Published : 2008.11.01
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Abstract

Rheumatoid arthritis (RA) is a chronic autoimmune disease that mainly involves the joints. Although the full etiology remains unclear, both genetic and environmental factors contribute to disease. Recently, genetic studies of RA, which include whole-genome linkage study, candidate gene association study, and especially genome-wide association study, made much progress through the advances in technology and large collection of case-controls. These various approaches provided new susceptible genes such as PTPN22, PADI4, STAT4, TNFAIP3, TRAF1-C5, CD40 gene in addition to HLA-DRB1. This review will cover an update in recent progress in RA genetics, focusing mainly on the several novel loci. (Korean J Med 75:515-524, 2008)

최근 1～2년 사이에 유전과학기술의 발전에 힘입어 수십 년간 유일한 위험유전자로 알려져 있던 HLA-DRB1 이외에도 다수의 유력한 후보유전자들이 밝혀지고 있다. 그러나 류마티스관절염의 병인을 밝히고 새로운 진단법 또는 바이오마커의 개발, 그리고 궁극적 목표인 새로운 치료제 개발 등의 임상적 실효성을 거두기 위해서는 표 3에서 보여주는 바와 같이 단계별로 많은 연구가 필요할 것이다. 이와 더불어 류마티스관절염 환자군을 유전자형에 따라 새롭게 분류하고, 질병의 경과를 미리 예상하거나 ,치료제에 대한 반응을 예측하는 등의 미래 맞춤의학 도입에 유전학의 발전이 기여할 수 있을 것으로 기대하는 바이다.

Keywords

References

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