Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.
Genet Med. 2013 Feb;15(2):153-6. doi: 10.1038/gim.2012.165. Epub 2013 Jan 3.
MTHFR polymorphism testing is frequently ordered by physicians as part of the clinical evaluation for thrombophilia. It was previously hypothesized that reduced enzyme activity of MTHFR led to mild hyperhomocysteinemia which led to an increased risk for venous thromboembolism, coronary heart disease, and recurrent pregnancy loss. Recent meta-analyses have disproven an association between hyperhomocysteinemia and risk for coronary heart disease and between MTHFR polymorphism status and risk for venous t-hromboembolism. There is growing evidence that MTHFR polymorphism testing has minimal clinical utility and, therefore should not be ordered as a part of a routine evaluation for thrombophilia.
亚甲基四氢叶酸还原酶（MTHFR）多态性检测常被医生作为血栓形成倾向临床评估的一部分。先前假设 MTHFR 酶活性降低导致轻度高同型半胱氨酸血症，从而增加静脉血栓栓塞、冠心病和复发性妊娠丢失的风险。最近的荟萃分析证明高同型半胱氨酸血症与冠心病风险之间以及 MTHFR 多态性状态与静脉血栓栓塞风险之间没有关联。越来越多的证据表明，MTHFR 多态性检测的临床实用性很小，因此不应该作为血栓形成倾向常规评估的一部分进行检测。
