Institute of Genomics and Integrative Biology, Delhi, India.
Biomarkers. 2010 May;15(3):283-7. doi: 10.3109/13547501003658106.
Cystathionine beta-synthase (CBS) is a key enzyme that plays a critical role in homocysteine metabolism and intracellular redox balance. We have analysed the association of the CBS 844Ins68 polymorphism alone and in combination with methylenetetrahydrofolate reductase (MTHFR C677T) and choline dehydrogenase (CHDH A119C) polymorphisms (the two polymorphisms recently shown to be associated with levels of homocysteine) with homocysteine, cysteine, folate and vitamin B(12) in 817 individuals (397 patients with coronary artery disease and 420 controls). The CBS 844Ins68 polymorphism alone or in combination with MTHFR C677T and CHDH A119C polymorphisms was not significantly associated with any of the biochemical variables studied.
胱硫醚β合酶（CBS）是一种关键酶，在同型半胱氨酸代谢和细胞内氧化还原平衡中发挥着重要作用。我们分析了 CBS 844Ins68 单核苷酸多态性以及与亚甲基四氢叶酸还原酶（MTHFR C677T）和胆碱脱氢酶（CHDH A119C）多态性（最近被证明与同型半胱氨酸水平相关的两种多态性）的联合作用，共分析了 817 个人（397 例冠心病患者和 420 例对照者）的同型半胱氨酸、半胱氨酸、叶酸和维生素 B12。CBS 844Ins68 单核苷酸多态性或与 MTHFR C677T 和 CHDH A119C 多态性联合作用，与所研究的任何生化变量均无显著相关性。
