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同型半胱氨酸是蛋氨酸代谢过程中形成的一种含硫氨基酸。研究认为它与多种疾病相关。高同型半胱氨酸血症的具体发病机制还不清楚。近年来的研究发现参与它代谢的酶的基因多态性在其发生中起重要作用。本文将就同型半胱氨酸的代谢和参与它代谢过程的酶基因多态性的研究进展作一综述。
Homocysteine is a sulfur-containing amino acid formed during methionine metabolism. Research suggests that it is associated with a variety of diseases. The exact pathogenesis of hyperhomocysteinemia remains unclear. Recent studies have found that genetic polymorphisms of enzymes involved in its metabolism play an important role in its occurrence. This article reviews the progress of homocysteine metabolism and enzyme gene polymorphisms involved in its metabolism.