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首页> 外文期刊>Cancer and Clinical Oncology >Non-Association of Methylenetetrahydrofolate Reductase (MTHFR) Polymorphisms with Homocysteine Levels, Venous or Arterial Thromboses in 1,141 North-Central Appalachian Patients
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Non-Association of Methylenetetrahydrofolate Reductase (MTHFR) Polymorphisms with Homocysteine Levels, Venous or Arterial Thromboses in 1,141 North-Central Appalachian Patients

机译：亚甲基四氢叶酸还原酶（MTHFR）多态性与同型半胱氨酸水平，静脉或动脉血栓形成在1,141中北部阿巴拉契亚患者中的非关联。

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Objectives: MTHFR polymorphism testing has been used by clinicians for thrombophilia risk assessment. We questioned the utility of such testing.Methods: 1,141 patients age 18 and above had MTHFR testing for both C677T and A1298C polymorphisms, 2006 through 2012. Available plasma homocysteine levels were obtained and ICD-9 billing codes were grouped to identify venous or arterial clots in these patients.Results: 901 women and 240 men were tested; median age in women was 33 years (range 18-86); median age in men was 47 years (range 18-83). County of residence mapping confirmed that this MTHFR tested population was from north-central Appalachia. Only 144 (13%) of the 1,141 patients had no polymorphism at either the C677T or the A1298C locus; only 4 patients (0.4%) had 3 or more polymorphisms; 993 patients (87%) had either one or two polymorphisms. We found polymorphism frequency pattern similar in both sexes. Although men had higher homocysteine levels, MTHFR polymorphisms did not associate with homocysteine levels in either sex. In 901 women tested, the ICD-9 coded incidence of arterial clots was 20%, and of venous clots was 21%; in 240 men tested, the incidence of arterial clots was 48% and of venous clots was 40%. MTHFR polymorphisms did not associate with arterial or venous clots in either sex. Based on CPT billing codes, a minimal cost estimate was $137,000 for performing these 1,141 MTHFR tests.Conclusions: MTHFR testing was costly and did not add useful information during thrombophilia evaluation in this patient population.?.
机译：目的：MTHFR多态性测试已被临床医生用于血栓形成风险评估。方法：2006年至2012年，对1,141名18岁及以上的患者进行了C677T和A1298C多态性的MTHFR检测。获得了血浆同型半胱氨酸水平，并将ICD-9计费代码分组以识别静脉或动脉血块结果：901名女性和240名男性进行了检测。女性的平均年龄为33岁（范围18-86）;男性的平均年龄为47岁（范围18-83）。居住县的地图确定，该MTHFR测试人群来自阿巴拉契亚中北部。在1,141名患者中，只有144名（13％）在C677T或A1298C位点没有多态性。只有4名患者（0.4％）具有3个或更多的多态性; 993例患者（占87％）具有一或两个多态性。我们发现两性的多态性频率模式相似。尽管男性的同型半胱氨酸水平较高，但MTHFR多态性与男女同型半胱氨酸水平均不相关。在901名接受测试的妇女中，ICD-9编码的动脉血块发生率为20％，静脉血块发生率为21％。在接受测试的240名男性中，动脉血块的发生率为48％，静脉血块的发生率为40％。 MTHFR多态性与性别均不与动脉或静脉血块相关。根据CPT帐单代码，执行这1,141项MTHFR测试的最低成本估算为$ 137,000。结论：MTHFR测试成本高昂，并且在该患者人群的血友病评估期间未添加有用的信息。

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