INTERNATIONAL COLLABOLATIVE STUDY ON THE ACE GENE POLYMORPHISM AS A GENETIC RISK FACTOR FOR SARCOIDOSIS

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Measurement of serum ACE levels plays important roles in diagnosis of sarcoidosis or assessing its disease activity. We studied, from the standpoint of the ACE gene polymorphism, the predisposition to sarcoidosis, as well as the genetic regulation of serum ACE levels in sarcoid patients and in controls in Japan. A significant association between ACE gene polymorphism and serum ACE levels in patients as well as in controls was recognized. Further analysis showed that ACE gene polymorphism could be weak genetic risk factor for sarcoidosis. Another interesting point is that ACE gene polymorphism was a strong prognostic factor for sarcoidosis and patients with genotype DD had about five-times prolonged disease activity compared with patients with genotype II.Our purpose of this current study is to verify our findings above in different populations other than Japanese, because the incidence, clinical features and prognosis of sarcoidosis is very defferent from country to country. We included 80 patients and 65 controls from Sweden (Karolinska Hospital) and 59 patients and 70 controls from Finland (Mjobolsta Hospital) in this study so far and determined two alleles (I/D) and ACE genotypes (II/ID/DD), and serum ACE levels. The frequencies of two alleles were not significantly different between patients and controls in both countries, but we reconfirmed a significant association between ACE gene polymorphism and serum ACE levels in patients and in controls as in Japanese sujects. As we consider that ACE gene polymorphism is important as a prognostic factor rather than a risk factor, we are processing clinical information about the patients from the two country.