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Association of Cystathionine ?-Synthase Gene Polymorphisms With Preeclampsia.

ABSTRACT: 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 ?-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.

SUBMITTER: de Leon Bautista MP

PROVIDER: S-EPMC6714820 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature

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Association of Cystathionine β-Synthase Gene Polymorphisms With Preeclampsia.

de León Bautista Mercedes Piedad MP Romero-Valdovinos Mirza M Zavaleta-Villa Beatriz B Martínez-Flores Arony A Olivo-Díaz Angélica A

Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis 20181031 9_suppl

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 <i>CBS</i> gene, resulting i ...[more]

PMID: 30380942

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Project description:BackgroundPreeclampsia is a serious pregnancy-specific syndrome with incompletely understood pathogenesis. Previous study has demonstrated that the decreased CXCR2 in preeclamptic placentas may contribute to the development of preeclampsia. The role of single nucleotide polymorphisms (SNPs) of CXCR2 gene in the pathogenesis of preeclampsia remains largely unexplored. Thus, we aimed to investigate the association between polymorphisms of CXCR2 gene and preeclampsia in Han Chinese women.MethodsTotally 481 pregnant women, including 243 controls and 238 patients with preeclampsia were recruited. The rs1126579 and rs2230054 polymorphisms in CXCR2 gene were tested using polymerase chain reaction-restriction fragment length polymorphism method.ResultsSignificantly increased risk of preeclampsia was observed in the rs1126579 CC or TC/CC genotypes when compared with TT genotype (CC vs. TT: odss ratio [OR] = 2.11, 95% confidence interval [CI] = 1.18-3.76, p = 0.039; TC/CC vs. TT: OR = 1.89, 95% CI = 1.29-2.78, p = 0.001). Markedly higher risk of preeclampsia was found to be associated with rs1126579 TC genotype (TC vs. TT/CC: OR = 1.48, 95% CI = 1.04-2.12, p = 0.031). After stratification analysis, the different distribution of TC/CC genotypes was particularly significant in the severe preeclampsia group (OR = 2.15, 95% CI = 1.42-3.24, p < 0.01), the early-onset severe preeclampsia group (OR = 1.97, 95% CI = 1.14-3.42, p = 0.013), and the late-onset severe preeclampsia group (OR = 2.29, 95% CI = 1.39-3.78, p < 0.01). Besides, TC genotype carriers had a 1.55 fold increased risk of severe preeclampsia (95% CI = 1.06-2.27, p = 0.022) and a 1.80 fold increased risk of late onset severe preeclampsia (95% CI = 1.14-2.83, p = 0.01) than those of TT/CC genotype carriers.ConclusionsOur study suggests a genetic association between rs1126579 polymorphism in CXCR2 gene and increased risk of preeclampsia. These data provide a new clue for future investigation.

Project description:Preeclampsia is a complex genetic disorder and its pathogenesis remains to be investigated. Single nucleotide polymorphisms serve important roles in genetic predisposition. The present study aimed to explore the association between runt-related transcription factor 3 (RUNX3) gene polymorphisms in severe preeclampsia (SPE) and clinical features.A total of 417 participants were enrolled in the present study. The rs2236852, rs7528484 and rs760805 polymorphisms of the RUNX3 gene were tested using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Clinical information of patients and controls was collected. Relationship between clinical feature and different genotype was analyzed.Compared with rs2236852 GG genotype carriers, the odds ratios (OR) for the risk of SPE were 2.26 [95% confidence interval (CI), 1.24-4.12; P = .023] in AA genotype carriers. A significantly increased risk of SPE was associated with AG/AA genotypes compared with GG genotypes (OR, 1.74; 95% CI, 1.11-2.75; P = .015). AA homozygote carriers with SPE exhibited lower birth weight, shorter birth length and reduced incidence of hypoproteinemia compared with AG heterozygote carriers (P <.05). A significantly increased risk of SPE was determined to be associated with the rs7528484 CC genotype in codominant and recessive models (CC vs TT: OR, 3.70, 95% CI, 1.31-10.43, P = .01; CC vs TT/TC: OR, 3.98, 95% CI, 1.46-10.87, P = .003). Patients carrying C-allele (TC + CC) presented increased systolic pressure and an increased incidence of neonatal pneumonia compared with TT homozygote carriers (P <.05). Compared with rs760805 TT homozygote carriers, patients carrying AA homozygote exhibited significantly reduced 24 hours urinary protein levels, lower serum creatinine concentrations and a decreased incidence of neonatal asphyxia (P <.05).The present study suggested a genetic association between RUNX3 gene polymorphisms and SPE. The data provided a novel insight to guide future investigations.

Dataset Information

Association of Cystathionine ?-Synthase Gene Polymorphisms With Preeclampsia.

Publications

Association of Cystathionine β-Synthase Gene Polymorphisms With Preeclampsia.

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