Asal Honarpour, Ahmad Majd, Hossein Sadeghi, Sayedhamid Jamaldini, Maryam Rahimi, Paniz Kazemzadeh, Reza Mirfakhraie
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引用次数: 0
Abstract
Background: The activin A receptor type 2A gene (ACVR2A) plays an important role in normal gestation, particularly in decidualization, trophoblastic invasion, and placentation. Although several studies have investigated the association between ACVR2A maternal variants and preeclampsia (PE) susceptibility; however, controversial results were obtained. Moreover, in none of the previous studies, the role of ACVR2A fetal variants was explored. The aim of the present study was to investigate the role of ACVR2A rs1424954 and rs1424941 polymorphisms in PE susceptibility considering the impact of both fetal and maternal genotypes.
Methods: For genotyping of ACVR2A rs1424954 and rs1424941, we performed TP-ARMS-PCR on 600 samples, including 400 peripheral blood samples from preeclamptic and normal women and 200 umbilical cord blood samples from each group of pregnant women.
Results: Regarding rs1424954, only the fetal genotypes were associated with an increased risk of PE in both dominant and recessive inheritance models (OR = 2.88, 95% CI: 1.58-5.25, p = 0.0005; and OR = 2.43, 95% CI: 1.21-4.87, p = 0.012; respectively). For ACVR2A rs1424941variant, both maternal and fetal heterozygote genotypes were associated with PE susceptibility (OR = 1.57, 95% CI: 1.02-2.04, p = 0.04; and OR = 1.90, 95% CI: 1.02-3.54, p = 0.04; respectively).
Conclusion: The present study confirmed the role of fetal ACVR2A polymorphisms in PE pathogenesis for the first time. However, replicated studies in diverse ethnicities are necessary to confirm the role of fetal genotype on susceptibility to PE.
期刊介绍：
Molecular Genetics & Genomic Medicine is a peer-reviewed journal for rapid dissemination of quality research related to the dynamically developing areas of human, molecular and medical genetics. The journal publishes original research articles covering findings in phenotypic, molecular, biological, and genomic aspects of genomic variation, inherited disorders and birth defects. The broad publishing spectrum of Molecular Genetics & Genomic Medicine includes rare and common disorders from diagnosis to treatment. Examples of appropriate articles include reports of novel disease genes, functional studies of genetic variants, in-depth genotype-phenotype studies, genomic analysis of inherited disorders, molecular diagnostic methods, medical bioinformatics, ethical, legal, and social implications (ELSI), and approaches to clinical diagnosis. Molecular Genetics & Genomic Medicine provides a scientific home for next generation sequencing studies of rare and common disorders, which will make research in this fascinating area easily and rapidly accessible to the scientific community. This will serve as the basis for translating next generation sequencing studies into individualized diagnostics and therapeutics, for day-to-day medical care.
Molecular Genetics & Genomic Medicine publishes original research articles, reviews, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented.
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