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 水平的测量在结节病的诊断或评估其疾病活动性方面发挥着重要作用。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者的结节病易感性以及血清 ACE 水平的遗传调控。人们认识到，患者和对照组的 ACE 基因多态性与血清 ACE 水平之间存在显着相关性。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 的患者相比，基因型 DD 的患者的疾病活动时间延长了约五倍。我们当前研究的目的是在不同人群中验证我们的上述发现除日本外，因为各国结节病的发病率、临床特征和预后差异很大。迄今为止，我们在这项研究中纳入了来自瑞典（卡罗林斯卡医院）的 80 名患者和 65 名对照以及来自芬兰（Mjobolsta 医院）的 59 名患者和 70 名对照，并确定了两种等位基因 (I/D) 和 ACE 基因型 (II/ID/DD)，和血清 ACE 水平。两个等位基因的频率在这两个国家的患者和对照之间没有显着差异，但我们再次确认了日本受试者中患者和对照的 ACE 基因多态性与血清 ACE 水平之间的显着相关性。由于我们认为 ACE 基因多态性作为一个重要的预后因素而不是危险因素，因此我们正在处理有关两国患者的临床信息。