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

ACE 基因多态性作为结节病遗传危险因素的国际合作研究

基本信息

批准号：
06670598
负责人：
SUZUKI Junichi
金额：
$ 1.54万
依托单位：
HOKKAIDO UNIVERSITY
依托单位国家：
日本
项目类别：
Grant-in-Aid for General Scientific Research (C)
财政年份：
1994
资助国家：
日本
起止时间：
1994 至 1995
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-06670598/
关键词：
Sarcoidosis ACE ACE gene polymorphism Risk factor Prognostic factor ACE遺伝子

项目摘要

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.

血清ACE水平的测定在结节病的诊断或评估其疾病活动性方面具有重要作用。我们从ACE基因多态性的角度研究了日本结节病患者和对照组血清ACE水平的遗传调控，以及结节病易感性。在患者和对照组中，ACE基因多态性与血清ACE水平之间存在显著关联。进一步分析表明ACE基因多态性可能是结节病的弱遗传危险因素。另一个有趣的观点是，ACE基因多态性是结节病的一个强有力的预后因素，与基因型II患者相比，基因型DD患者的疾病活动性延长了约5倍。我们本次研究的目的是在日本以外的不同人群中验证我们的上述发现，因为结节病的发病率、临床特征和预后在各国之间存在很大差异。迄今为止，我们纳入了来自瑞典（卡罗林斯卡医院）的80例患者和65例对照，以及来自芬兰（Mjobolsta医院）的59例患者和70例对照，并确定了两个等位基因（I/D）和ACE基因型（II/ID/DD），以及血清ACE水平。两个等位基因的频率在两国的患者和对照组之间没有显著差异，但我们再次证实了ACE基因多态性与患者和对照组（如日本受试者）血清ACE水平之间的显著关联。由于我们认为ACE基因多态性是一个重要的预后因素，而不是一个危险因素，我们正在处理两国患者的临床信息。