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[结节病中血管紧张素转换酶(ACE)多态性与血清ACE活性]

[Angiotensin-converting enzyme (ACE) polymorphism and serum ACE activities in sarcoidosis].

作者信息

Furuya K, Yamaguchi E, Kawakami Y

机构信息

First Department of Medicine, Hokkaido University School of Medicine.

出版信息

Nihon Rinsho. 1994 Jun;52(6):1561-6.

PMID:8046841
Abstract

Recently, a genetic control of serum ACE (SACE) levels has been suggested by the identification of an insertion/deletion (I/D) polymorphism of the ACE gene by Rigat et al. We have also confirmed significant association between ACE gene polymorphism and SACE activities both in controls and sarcoidosis and established the new reference intervals of SACE activities for each genotype. The new reference intervals improved discrimination between normal and abnormal SACE activities. The frequencies of two alleles (I/D) in Japanese were quite different from those in whites and the insertion allele was dominant in Japanese. This genetic variation may affect the pathogenesis and prognosis of various diseases such as sarcoidosis and ischemic heart diseases.

摘要

最近,Rigat等人通过鉴定ACE基因的插入/缺失(I/D)多态性,提示了血清ACE(SACE)水平存在遗传控制。我们也证实了ACE基因多态性与对照组及结节病患者的SACE活性之间存在显著关联,并建立了每种基因型SACE活性的新参考区间。新的参考区间改善了正常与异常SACE活性之间的区分。日本人中两个等位基因(I/D)的频率与白人有很大差异,插入等位基因在日本人中占主导地位。这种遗传变异可能影响结节病和缺血性心脏病等各种疾病的发病机制和预后。

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