포르말린 고정 파라핀 포매된 유육종증 환자의 조직을 이용한 안지오텐신 전환 효소 유전자 다형성 검색

Abstract

Background : Sarcoidosis is a systemic disease characterized by nonnecrotizing granulomas involving the lung and hilar lymph nodes. Serum angiotensin converting enzyme (sACE) levels in patients with sarcoidosis have been implicated as an indicator of granuloma burden. Recently, it has been found that ACE gene insertion/deletion (ID) polymorphism affects sACE levels in healthy individuals. Moreover, reported sACE levels were highest in the deletion/deletion (DD) genotype. Previous studies to investigate the distribution of ACE genotypes according to ethnic groups have revealed various results and have caused controversy. Methods : Polymerase chain reactions were performed to determine the ACE genotypes in fifteen formalinfixed, paraffin-embedded tissues from patients with sarcoidosis. Results : The distribution of ACE gene (I/D) polymorphism in patients with sarcoidosis was significantly different from that in normal controls. The DD genotype was more frequent in patients with sarcoidosis than in the normal controls. The D allele frequency was also higher in patients with sarcoidosis than in the normal controls. The relative risk of sarcoidosis was higher in DD homozygotes. Conclusions : These results suggested the ACE gene I/D polymorphism may play an important role in the pathogenesis and progression of sarcoidosis.