Apo-1/Fas (CD95) Gene Polymorphism in Korean Knee Osteoarthritis Patients

한국인 무릎 골 관절염 환자들의 임상 양상과 Apo-1/Fas (CD95) 유전자 다형성과의 상관관계에 관한 연구

  • Hong, Seung-Jae (Department of Internal Medicine, College of Medicine, KyungHee University) ;
  • Yang, Hyung-In (Department of Internal Medicine, College of Medicine, KyungHee University) ;
  • Yim, Sung-Vin (Kohwang Medical Research Institute, KyungHee University) ;
  • Chung, Joo-Ho (Kohwang Medical Research Institute, KyungHee University) ;
  • Jung, Young-Ok (Department of Internal Medicine, College of Medicine, The Catholic University of Korea) ;
  • Kim, Ho-Youn (Department of Internal Medicine, College of Medicine, The Catholic University of Korea)
  • 홍승재 (경희대학교 의과대학 내과학교실) ;
  • 양형인 (경희대학교 의과대학 내과학교실) ;
  • 임성빈 (경희대학교 고황의학연구소) ;
  • 정주호 (경희대학교 고황의학연구소) ;
  • 정영옥 (가톨릭대학교 의과대학 내과학교실) ;
  • 김호연 (가톨릭대학교 의과대학 내과학교실)
  • Published : 2003.06.30

Abstract

Background: Apoptosis has been implicated in pathogenesis of various disease. Apo-1/Fas (CD95) is one of the main pathway of apoptosis. To examine the possible relationship between Apo-1/Fas (CD95) and primary knee osteoarthritis, MvaI restriction length polymorphism (RFLP) in human Apo-1/Fas (CD95) gene was assessed. Methods: Genotype and allele frequencies in promoter region in the Apo-1/Fas (CD95) gene were studied by PCR-RFLP in 226 Korean controls and 148 Korean patients with primary knee osteoarthritis. Results: No statistically significant difference in the genotypic distribution and allelic frequencies was found between the control and the knee oateoarthritis patients. But in the severe grade (grade 3, 4) Kellgren-Lawrence score patients, the frequency of $MvaI^*1$ (G) allele was significantly decreased (P=0.0392) and the of $MvaI^*2$ (A) allele frequency was significantly increased (P=0.0473) compared to the normal controls. Conclusion: Apo-1/Fas (CD95) gene polymorphism is a part a determinant factor of severity in knee osteoarthritis, the patients with $MvaI^*2$ (A) allele is more severe radiologic progression. Further substantiation studies are needed in larger patient samples and various other apoptosis related genes to elucidate the mechanism of osteoarthritis, including the Fas ligand gene analysis.

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