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耐力与血管紧张素转换酶I/D多态性

Endurance and the ACE I/D polymorphism.

作者信息

Woods D R, Brull D, Montgomery H E

机构信息

Department Cardiovascular Genetics, University College London, 3rd floor, Rayne Institute, 5, University Street, London WC1E 6JJ.

出版信息

Sci Prog. 2000;83(Pt 4):317-36.

PMID:11233367
Abstract

A variant of the angiotensin-converting enzyme (ACE) gene, which we all carry, is known as the insertion, or I allele, due to the presence of a 287 base pair DNA fragment. This variant, or polymorphism, is associated with reduced levels of serum and tissue ACE. This intriguing polymorphism has been associated with various physiological and pathological states from diabetic renal disease to coronary heart disease. There have been conflicting reports regarding its association with some aspects of enhanced endurance performance in elite athletes. This review aims to examine the evidence for and against an association of the I allele with endurance and highlight some of the possible mechanism that might be involved. It is concluded that an association seems likely and that it is probably due to a local muscle effect rather than a central cardiorespiratory mechanism.

摘要

我们所有人都携带的血管紧张素转换酶(ACE)基因的一种变体,由于存在一个287个碱基对的DNA片段,被称为插入型,即I等位基因。这种变体,或多态性,与血清和组织ACE水平降低有关。这种有趣的多态性与从糖尿病肾病到冠心病的各种生理和病理状态有关。关于它与精英运动员耐力增强的某些方面的关联,一直存在相互矛盾的报道。这篇综述旨在研究支持和反对I等位基因与耐力相关联的证据,并强调一些可能涉及的机制。结论是这种关联似乎很可能存在,而且可能是由于局部肌肉效应而非中枢心肺机制。

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