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血清血管紧张素转换酶的基因型校正参考值

Genotype-corrected reference values for serum angiotensin-converting enzyme.

作者信息

Biller H, Zissel G, Ruprecht B, Nauck M, Busse Grawitz A, Müller-Quernheim J

机构信息

Department of Pneumology, Medical Center, University of Freiburg, Killianstr. 5, D-79104 Freiburg, Germany.

出版信息

Eur Respir J. 2006 Dec;28(6):1085-90. doi: 10.1183/09031936.00050106.

Abstract

The deletion (D)/insertion (I) polymorphism in intron 16 of the angiotensin-converting enzyme (ACE) gene has the greatest impact on serum ACE level in Caucasians of any factor yet discovered. The aim of the present study was to establish new ACE genotype-corrected normal ranges for serum ACE level in a population of central European origin. After a medical examination, 159 healthy Caucasians volunteered to donate blood for the study. ACE genotypes were assessed by PCR and serum ACE levels were determined using two different kinetic tests. The distribution of the D/I polymorphism of the ACE gene was in accordance with the Hardy-Weinberg equilibrium. Serum ACE levels and ACE genotypes correlated significantly, with the highest serum ACE levels in subjects with ACE genotype D/D, and the lowest serum ACE levels in subjects with genotype I/I (mean+/-sd, assay 1: D/D 59.3+/-15.1 U x L(-1), D/I 45.5+/-15.2 U x L(-1), I/I 34.8+/-13.7 U x L(-1); assay 2: D/D 43.7+/-14.1 U x L(-1), D/I 33.7+/-12.1 U x L(-1), I/I 25.4+/-9.5 U x L(-1)). Although they gave different absolute values of serum ACE levels, the results of the two test kits correlated significantly. In conclusion, the present authors recommend the use of new, genotype-specific reference values for serum angiotensin-converting enzyme levels, especially to improve the sensitivity and specificity of tests for angiotensin-converting enzyme in the follow-up of sarcoidosis.

摘要

血管紧张素转换酶(ACE)基因第16内含子的缺失(D)/插入(I)多态性对血清ACE水平的影响,在迄今发现的所有因素中,对高加索人影响最大。本研究的目的是为中欧裔人群建立经ACE基因型校正的血清ACE水平正常范围。经过医学检查,159名健康的高加索人自愿献血用于本研究。通过聚合酶链反应(PCR)评估ACE基因型,并用两种不同的动力学试验测定血清ACE水平。ACE基因的D/I多态性分布符合哈迪-温伯格平衡。血清ACE水平与ACE基因型显著相关,ACE基因型为D/D的受试者血清ACE水平最高,基因型为I/I的受试者血清ACE水平最低(平均值±标准差,检测1:D/D 59.3±15.1 U×L⁻¹,D/I 45.5±15.2 U×L⁻¹,I/I 34.8±13.7 U×L⁻¹;检测2:D/D 43.7±14.1 U×L⁻¹,D/I 33.7±12.1 U×L⁻¹,I/I 25.4±9.5 U×L⁻¹)。虽然两种检测试剂盒给出的血清ACE水平绝对值不同,但结果显著相关。总之,作者建议使用新的、特定基因型的血清血管紧张素转换酶水平参考值,特别是在结节病随访中提高血管紧张素转换酶检测的敏感性和特异性。

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