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Endothelial Nitric Oxide Synthase Haplotypes Are Associated with Preeclampsia in Maya Mestizo Women

机译:内皮一氧化氮合酶单倍型与玛雅混血儿先兆子痫相关。

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摘要

Preeclampsia is a specific disease of pregnancy and believed to have a genetic component. The aim of this study was to investigate if three polymorphisms in eNOS or their haplotypes are associated with preeclampsia in Maya mestizo women.A case-control study was performed where 127 preeclamptic patients and 263 controls were included. Genotyped and haplotypes for the -768T→C, intron 4 variants, Glu298Asp of eNOS were determined by PCR and real-time PCR allelic discrimination. Logistic regression analysis with adjustment for age and body mass index (BMI) was used to test for associations between genotype and preeclampsia under recessive, codominant and dominant models. Pairwise linkage disequilibrium between single nucleotide polymorphisms was calculated by direct correlation r2, and haplotype analysis was conducted.Women homozygous for the Asp298 allele showed an association of preeclampsia. In addition, analysis of the haplotype frequencies revealed that the -786C-4b-Asp298 haplotype was significantly more frequent in preeclamptic patients than in controls (0.143 vs. 0.041, respectively; OR = 3.01; 95% CI = 1.74–5.23; P = 2.9 × 10−4).Despite the Asp298 genotype in a recessive model associated with the presence of preeclampsia in Maya mestizo women, we believe that in this population the -786C-4b-Asp298 haplotype is a better genetic marker.
机译:子痫前症是一种特定的妊娠疾病,据信具有遗传成分。这项研究的目的是研究eNOS的三种多态性或其单倍型是否与Maya mestizo妇女的先兆子痫有关。进行了病例对照研究,其中包括127名先兆子痫患者和263名对照。通过PCR和实时PCR等位基因鉴别确定-768T→C,内含子4变体,eNOS的Glu298Asp的基因型和单倍型。使用隐性,显性和显性模型,对年龄和体重指数(BMI)进行调整的逻辑回归分析用于检验基因型与先兆子痫之间的关联。通过直接相关r 2 计算单核苷酸多态性之间的成对连锁不平衡,并进行单倍型分析。Asp298等位基因纯合子的妇女表现为先兆子痫。此外,对单倍型频率的分析表明,先兆子痫患者中-786C-4b-Asp298单倍型的频率明显高于对照组(分别为0.143和0.041; OR = 3.01; 95%CI = 1.74-5.23; P = 2.9×10 −4 )。尽管在玛雅混血儿女性中存在先兆子痫的隐性模型中有Asp298基因型,但我们认为在该人群中-786C-4b-Asp298单倍型是更好的基因标记。

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