Genetic and lifestyle variables associated with homocysteine concentrations and the distribution of folate derivatives in healthy premenopausal women.
Genetic and lifestyle variables associated with homocysteine concentrations and the distribution of folate derivatives in healthy premenopausal women.
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DOI：
10.1002/bdra.20683
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发表时间：
2010-08
影响因子：
--
通讯作者：
Whitehead, Alexander S.
中科院分区：
文献类型：
--
作者：
Summers, Carolyn M.;Mitchell, Laura E.;Stanislawska-Sachadyn, Anna;Baido, Shirley F.;Blair, Ian A.;Von Feldt, Joan M.;Whitehead, Alexander S.
低叶酸和高同型半胱氨酸(Hcy)浓度与妊娠相关的疾病有关，如脊柱裂。叶酸/同型半胱氨酸代谢酶的多态可能与这种潜在的致病生化表型有关。这项研究包括26名高加索人和23名非洲裔绝经前女性。受试者提供空腹血样进行生化表型和基因分型。用稳定同位素稀释液相色谱、多反应监测、质谱法测定血浆和红细胞叶酸衍生物[即四氢叶酸(THF)、5-甲基四氢叶酸(5-MTHF)和5，10-亚甲基四氢叶酸(5，10-MTHF)]的总同型半胱氨酸(THcy)、血浆和红细胞(RBC)叶酸衍生物。对9个叶酸/同型半胱氨酸途径基因的11个多态性进行了基因分型。对遗传、生活方式和生化变量之间的关联性进行了测试。在非裔美国女性中，tHcy浓度与总RBC叶酸、RBC 5-MTHF、B12以及蛋氨酸合成酶(MTR)和胸苷合成酶(TYMS)的多态相关(p<；0.05)。在高加索女性中，tHcy浓度与总叶酸水平无关，但与RBC THF、RBC 5-MTHF/THF比值、5，10-亚甲基四氢叶酸还原酶(MTHFR)和MTR的多态性有关(p<；0.05)。在非裔美国人中，叶酸衍生水平与吸烟、B12、MTR、TYMS、蛋氨酸合成酶还原酶(MTRR)和还原型叶酸携带者1(RFc1)的多态有关。在高加索人中，叶酸衍生水平与维生素使用、B12以及MTHFR、TYMS和Rfc1基因的多态有关。叶酸/同型半胱氨酸途径的多态与tHcy和叶酸衍生物水平有关。在非裔美国人和高加索女性中，不同的因素与叶酸/同型半胱氨酸表型有关，并可能导致不同种族在一系列与怀孕有关的病理疾病的风险方面的差异。
Low folate and high homocysteine (Hcy) concentrations are associated with pregnancy-related pathologies such as spina bifida. Polymorphisms in folate/Hcy metabolic enzymes may contribute to this potentially pathogenic biochemical phenotype. The study comprised 26 Caucasian and 23 African-American premenopausal women. Subjects gave fasting blood samples for biochemical phenotyping and genotyping. Total Hcy (tHcy) and both plasma and red blood cell (RBC) folate derivatives [i.e. tetrahydrofolate (THF), 5-methylTHF (5-MTHF), and 5,10-methenylTHF (5,10-MTHF)] were measured using stable isotope dilution liquid chromatography, multiple reaction monitoring, mass spectrometry. Eleven polymorphisms from nine folate/Hcy pathway genes were genotyped. Tests of association between genetic, lifestyle, and biochemical variables were applied. In African American women, tHcy concentrations were associated (p<0.05) with total RBC folate, RBC 5-MTHF, B12, and polymorphisms in methionine synthase (MTR) and thymidylate synthase (TYMS). In Caucasian women, tHcy concentrations were not associated with total folate levels, but were associated (p<0.05) with RBC THF, ratios of RBC 5-MTHF: THF, and polymorphisms in 5,10-methylenetetrahydrofolate reductase (MTHFR) and MTR . In African Americans, folate derivative levels were associated with smoking, B12, and polymorphisms in MTR, TYMS, methionine synthase reductase (MTRR), and reduced folate carrier1 (RFC1). In Caucasians, folate derivative levels were associated with vitamin use, B12, and polymorphisms in MTHFR, TYMS, and RFC1. Polymorphisms in the folate/Hcy pathway are associated with tHcy and folate derivative levels. In African American and Caucasian women, different factors are associated with folate/Hcy phenotypes and may contribute to race-specific differences in the risks of a range of pregnancy-related pathologies.
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影响因子：
158.5
作者：
CZEIZEL, AE;DUDAS, I
通讯作者：
DUDAS, I
DOI：
10.1016/0140-6736(91)90133-a
发表时间：
1991-07-20
期刊：
Lancet (London, England)
影响因子：
--
作者：
通讯作者：
--
影响因子：
5.2
作者：
De Marco, P;Calevo, MG;Capra, V
通讯作者：
Capra, V
影响因子：
158.5
作者：
Berry, RJ;Li, Z;Correa, A
通讯作者：
Correa, A
影响因子：
120.7
作者：
Honein, MA;Paulozzi, LJ;Wong, LYC
通讯作者：
Wong, LYC