Also-Rallo Eva, Lopez-Quesada Eva, Urreizti Roser, Vilaseca M Antònia, Lailla Josep M, Balcells Susana, Grinberg Daniel
Department of Genetics of the University of Barcelona, Spain.
Eur J Obstet Gynecol Reprod Biol. 2005 May 1;120(1):45-52. doi: 10.1016/j.ejogrb.2004.08.008.
To evaluate the possible relationship between preeclampsia and polymorphisms in the main genes involved in folate-homocysteine metabolism.
Case-control study: 43 patients with preeclampsia and 122 controls without pregnancy complications. Laboratory studies: tHcy and other amino acids, folate and vitamin B(12) and polymorphisms: 677C > T and 1298A > C (MTHFR); 699C > T, 844ins68 and 1080C > T (CBS); 2756A > G (MTR); and 66G > A, IVS1+766G > A and IVS1+754A > C (MTRR).
Plasma tHcy and folate values were significantly higher (P = 0.004 and P = 0.019), while Met/tHcy ratios were lower (P < 0.001) in the patients compared with controls. No association was observed between polymorphisms tested and preeclampsia. In the control group, four such associations were found: the 1298A > C polymorphism (MTHFR) with the ratio Met/tHcy (P = 0.014); the 699C > T polymorphism (CBS) with the ratio tHcy/SigmaAA (P = 0.013); the 2756A > G polymorphism (MTR) with tHcy (P = 0.034); and the IVS1+766G > A polymorphism (MTRR) with hyperhomocysteinemia (P = 0.012).
An association between the polymorphisms analysed and preeclampsia could not be demonstrated.
评估子痫前期与叶酸-同型半胱氨酸代谢相关主要基因多态性之间的可能关系。
病例对照研究:43例子痫前期患者和122例无妊娠并发症的对照者。实验室检查:总同型半胱氨酸(tHcy)及其他氨基酸、叶酸和维生素B12,以及多态性:677C>T和1298A>C(亚甲基四氢叶酸还原酶,MTHFR);699C>T、844ins68和1080C>T(胱硫醚β合成酶,CBS);2756A>G(甲硫氨酸合成酶,MTR);以及66G>A、内含子1+766G>A和内含子1+754A>C(甲硫氨酸合成酶还原酶,MTRR)。
与对照组相比,患者血浆tHcy和叶酸值显著更高(P=0.004和P=0.019),而蛋氨酸/tHcy比值更低(P<0.001)。所检测的多态性与子痫前期之间未观察到关联。在对照组中,发现了四项此类关联:1298A>C多态性(MTHFR)与蛋氨酸/tHcy比值相关(P=0.014);699C>T多态性(CBS)与tHcy/总氨基酸比值相关(P=0.013);2756A>G多态性(MTR)与tHcy相关(P=0.034);以及内含子1+766G>A多态性(MTRR)与高同型半胱氨酸血症相关(P=0.012)。
未证实所分析的多态性与子痫前期之间存在关联。