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KMID : 0357920030370040225
Korean Journal of Pathology
2003 Volume.37 No. 4 p.225 ~ p.231
An Analysis for Angiotensin Converting Enzyme Gene Polymorphism in Formalin-fixed, Paraffin-embedded Tissues from Patients with Sarcoidosis
Kim Tae-Sook

Hong Hee-Yeon
Lee In-Chul
Abstract
Background: Sarcoidosis is a systemic disease characterized by nonnecrotizning granulomas involving the lung and hilar lymph nodes. Serum angiotensin convering 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 caued controversy.

Methods: Polymerase chain reactions were performed to determine the ACE genotypes in fifteen formalin-fixed, 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.

Conculstions: These results suggested the ACE gene I/D polymorphism may play an important role in the pathogenesis and progression of sarcoidosis.
KEYWORD
Sarcoidosis, Gene, Polymorphism, Angiotensin converting enzyme, Polymerase chain reaction
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