Association of Cystathionine β-Synthase Gene Polymorphisms With Preeclampsia.
Association of Cystathionine β-Synthase Gene Polymorphisms With Preeclampsia.
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DOI：
10.1177/1076029618808913
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发表时间：
2018-12
期刊：
影响因子：
--
通讯作者：
Olivo-Díaz A
中科院分区：
文献类型：
--
作者：
de León Bautista MP;Romero-Valdovinos M;Zavaleta-Villa B;Martínez-Flores A;Olivo-Díaz A
先兆子痫（PE）是一种妊娠期疾病，在全球范围内增加孕产妇和胎儿的发病率和死亡率。高血浆同型半胱氨酸（Hcy）水平是几种心血管疾病的危险因素。胱硫醚β-合酶（CBS）在同型半胱氨酸（Hcy）体内稳定中起重要作用，催化Hcy不可逆降解为胱硫醚，保护内皮细胞免受缺氧损伤。一些突变和多态性可能会改变CBS基因的表达，导致不同水平的Hcy。本研究的目的是调查CBS基因多态性与墨西哥妇女PE的关联。进行了一项病例对照研究，包括129例PE孕妇（37例重度和92例轻度）和173例无并发症妊娠妇女。对CBS基因的G797A、C785T、T833C、G919A、T959C、C1105T和844ins68碱基对等多态性进行基因分型。在仅有G797A-G等位基因的病例中，G797A多态性呈单态。C785T-T等位基因和C785T-C/T基因型与重度和轻度PE的易感性相关。等位基因G797A-G和T959C-T仅与重度PE的易感性相关。单倍型TGTWGTC对重度PE有易感性，对轻度PE有保护作用。单倍型CGTWGCC和CATWGTC似乎对重度PE有保护作用，但后者与轻度PE的易感性有关。结果表明，C785T，G797A和T959C突变在我们人群中以不同的方式在重度和轻度PE中起作用，并且可以被视为该疾病的另一个相关因素。
Preeclampsia (PE) is a pregnancy disorder that increases maternal and fetal morbidity and mortality worldwide. High plasma levels of homocysteine (Hcy) are a risk factor for several cardiovascular diseases. Cystathionine β-synthase (CBS) plays an important role in Hcy homeostasis catalyzing the irreversible degradation of Hcy to cystathionine, protecting the endothelium from injury caused by hypoxia. Several mutations and polymorphisms may alter the expression of the CBS gene, resulting in variable levels of Hcy. The purpose of this study was to investigate the association of CBS gene polymorphisms with PE in Mexican women. A case–control study consisting of 129 pregnant women with PE (37 severe and 92 mild) and 173 women with uncomplicated pregnancies was performed. Polymorphisms, such as G797A, C785T, T833C, G919A, T959C, C1105T, and 844ins68 base pair, in the CBS gene were genotyped. The polymorphism G797A was monomorphic in cases with the presence of only G797A-G allele. Allele C785T-T and genotype C785T-C/T were associated with susceptibility in severe and mild PE. Alleles G797A-G and T959C-T were associated with susceptibility only in severe PE. Haplotype TGTWGTC was of susceptibility for severe PE and of protection for mild PE. Haplotypes CGTWGCC and CATWGTC seem to be protective for severe PE, but the latter is related to susceptibility in mild PE. The results suggest that C785T, G797A, and T959C mutations are contributing in different ways in severe and mild PE in our population and could be count as another related factor for this disease.
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DOI：
10.1136/bmj.f6564
发表时间：
2013-11-07
期刊：
BMJ (Clinical research ed.)
影响因子：
--
作者：
Ananth CV;Keyes KM;Wapner RJ
通讯作者：
Wapner RJ
影响因子：
9.3
作者：
Holmes, VA;Wallace, JMW;McNulty, H
通讯作者：
McNulty, H
DOI：
10.1016/j.preghy.2015.12.001
发表时间：
2016-01-01
影响因子：
2.2
作者：
Holwerda, Kim M.;Weedon-Fekjaer, M. Susanne;Faas, Marijke M.
通讯作者：
Faas, Marijke M.
影响因子：
3.8
作者：
Li, J;Ji, L
通讯作者：
Ji, L
影响因子：
5.2
作者：
Lievers, KJA;Kluijtmans, LAJ;Blom, HJ
通讯作者：
Blom, HJ