High frequency of vitamin B12 deficiency in asymptomatic individuals homozygous to MTHFR C677T mutation is associated with endothelial dysfunction and homocysteinemia.
High frequency of vitamin B12 deficiency in asymptomatic individuals homozygous to MTHFR C677T mutation is associated with endothelial dysfunction and homocysteinemia.
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MTHFR C677T 突变纯合子无症状个体中维生素 B12 缺乏的频率较高，与内皮功能障碍和同型半胱氨酸血症相关。
DOI：
10.1152/ajpheart.01189.2006
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发表时间：
2007
期刊：
影响因子：
--
通讯作者：
M. Flugelman
中科院分区：
文献类型：
--
作者：
E. Zittan;M. Preis;I. Asmir;A. Cassel;N. Lindenfeld;S. Alroy;D. Halon;B. Lewis;A. Shiran;J. Schliamser;M. Flugelman
本研究的目的是检查360例无症状个体的亚甲基四氢叶酸还原酶（MTHFR）C677 T突变和维生素B12缺乏症的纯合性的相关性，并调查C677 T纯合型的前臂内皮功能。在研究参与者中测量MTHFR C677 T突变和维生素B12，叶酸和同型半胱氨酸水平。C677 T突变的纯合性频率为67/360（18.6%）。与杂合子受试者或无突变受试者相比，纯合子受试者的同型半胱氨酸水平升高（20.6 +/- 18.8 vs. 9.4 +/- 3.2 mumol/l; P < 0.0001）。纯合子中维生素B12缺乏（<150 pmol/l）的受试者数量显著高于杂合子受试者或无突变的受试者[20/67（29.8%）vs. 27/293（9.2%）; P < 0.0001]。纯合子受试者缺乏B12的可能性高出4.2倍（95%置信区间= 2.1-8.3）。前臂内皮功能进行了评估，在33纯合子和12名对照组。在纯合子受试者中观察到异常内皮功能，并且在维生素B12缺乏的纯合子受试者中更差。B12和叶酸治疗后，内皮功能正常化。我们发现C677 T突变的纯合性与B12缺乏密切相关。C677 T突变和B12缺乏的纯合性共存与内皮功能障碍有关，可以通过维生素B12和叶酸治疗来纠正。
The aim of this study was to examine the association of homozygosity for the methylenetetrahydrofolate reductase (MTHFR) C677T mutation and vitamin B12 deficiency in 360 asymptomatic individuals and to investigate forearm endothelial function in C677T homozygotes. MTHFR C677T mutation and levels of vitamin B12, folic acid, and homocysteine were measured in study participants. Frequency of homozygosity for the C677T mutation was 67/360 (18.6%). Homocysteine levels were elevated in homozygous compared with heterozygous subjects or those without the mutation (20.6 +/- 18.8 vs. 9.4 +/- 3.2 mumol/l; P < 0.0001). The number of subjects with vitamin B12 deficiency (<150 pmol/l) was significantly higher among the homozygote than the heterozygote subjects or subjects without mutation [20/67 (29.8%) vs. 27/293 (9.2%); P < 0.0001]. Homozygote subjects had 4.2 times higher probability of having B12 deficiency (95% confidence interval = 2.1-8.3). Forearm endothelial function was assessed in 33 homozygote and 12 control subjects. Abnormal endothelial function was observed in homozygous subjects and was worse in homozygote subjects with vitamin B12 deficiency. Endothelial function was normalized after B12 and folic acid treatment. We found that homozygosity for the C677T mutation is strongly associated with B12 deficiency. Coexistence of homozygosity for the C677T mutation and B12 deficiency is associated with endothelial dysfunction and can be corrected with vitamin B12 and folic acid treatment.
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影响因子：
37.8
作者：
Folsom, AR;Nieto, FJ;Davis, CE
通讯作者：
Davis, CE
影响因子：
15.9
作者：
STAMLER, JS;OSBORNE, JA;LOSCALZO, J
通讯作者：
LOSCALZO, J
影响因子：
20.3
作者：
Devlin, AM;Arning, E;Lentz, SR
通讯作者：
Lentz, SR
影响因子：
9.8
作者：
Soo-Sang Kang;Jeimin Zhou;P. Wong;J. Kowalisyn;G. Strokosch
通讯作者：
Soo-Sang Kang;Jeimin Zhou;P. Wong;J. Kowalisyn;G. Strokosch
DOI：
10.1161/01.atv.17.10.2074
发表时间：
1997-10-01
影响因子：
8.7
作者：
Majors, A;Ehrhart, LA;Pezacka, EH
通讯作者：
Pezacka, EH