与未受影响的兄弟姐妹相比,口唇裂和先天性心脏缺陷患儿叶酸和蛋氨酸循环基因中常见多态性的发生率更高。

IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY
Nataša Karas Kuželički, Alenka Šmid, Maša Vidmar Golja, Tina Kek, Andreja Eberlinc, Borut Geršak, Uroš Mazič, Irena Mlinarič-Raščan, Ksenija Geršak
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引用次数: 0

摘要

背景:不间断的叶酸代谢在胚胎发育过程中起着至关重要的作用,它确保了重要过程所需的一碳活化叶酸辅助因子的供应。叶酸缺乏与口唇裂(OFC)和先天性心脏病(CHD)的发生有关。虽然这两种畸形已被广泛研究以替代叶酸缺乏,但由于母体和胎儿基因组在胎儿发育过程中控制叶酸代谢的相互作用,相应的研究结果并不明确:我们采用了创新性的研究设计,将来自同一母亲的受影响和未受影响的兄弟姐妹进行比较,从而将母体基因组的影响降至最低。因此,我们有可能找出只与孩子有关的先天性畸形遗传标记。本研究比较了受 OFC 或 CHD 影响的妊娠与未受影响的妊娠之间的人口和环境因素,以及受 OFC 或 CHD 影响的兄弟姐妹与未受影响的兄弟姐妹之间叶酸代谢基因的多态性:结果:只有孕妇在怀孕头三个月发烧才是导致OFC的风险因素,而孕妇高龄、服用药物和FPGS基因的常见多态性则会增加CHD形成的风险。OFC和CHD的形成都与叶酸-蛋氨酸循环基因中较多的变异位点有关:结论:OFC和CHD的形成都与叶酸-蛋氨酸循环基因中较多的变异位点有关,这表明是多基因遗传,也可能是多因素遗传。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Higher Incidence of Common Polymorphisms in the Genes of Folate and Methionine Cycles in Children With Orofacial Clefs and Congenital Heart Defects Compared to their Unaffected Siblings

Higher Incidence of Common Polymorphisms in the Genes of Folate and Methionine Cycles in Children With Orofacial Clefs and Congenital Heart Defects Compared to their Unaffected Siblings

Background

Uninterrupted folate metabolism plays a vital role in embryonic development, ensuring a supply of one-carbon-activated folate cofactors for essential processes. Folate deficiency has been implicated in the development of orofacial clefts (OFC) and congenital heart disease (CHD). Although both malformations have been extensively studied in lieu of folate deficiency, the results of corresponding studies are ambiguous due to the interplay of maternal and fetal genomes controlling folate metabolism in the developing fetus.

Methods

We used the innovative study design to compare affected and unaffected siblings from the same mother, thus minimizing the effect of the maternal genome. Thus, it might be possible to identify genetic markers of congenital malformations that pertain exclusively to the child. This study compared demographic and environmental factors between OFC or CHD-affected and unaffected pregnancies as well as the presence of polymorphisms in genes of folate metabolism between OFC or CHD-affected and unaffected siblings.

Results

Only the maternal fever in the first trimester was a risk factor for OFC, whereas the maternal advanced age, medication administration, and common polymorphism in the FPGS gene increased the risk of CHD formation. Both OFC and CHD formation were associated with a higher number of variant loci in genes of folate–methionine cycles.

Conclusions

Both OFC and CHD formation were associated with a higher number of mutated loci in genes of folate–methionine cycles, indicating polygenic and possibly multifactorial inheritance.

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来源期刊
Birth Defects Research
Birth Defects Research Medicine-Embryology
CiteScore
3.60
自引率
9.50%
发文量
153
期刊介绍: The journal Birth Defects Research publishes original research and reviews in areas related to the etiology of adverse developmental and reproductive outcome. In particular the journal is devoted to the publication of original scientific research that contributes to the understanding of the biology of embryonic development and the prenatal causative factors and mechanisms leading to adverse pregnancy outcomes, namely structural and functional birth defects, pregnancy loss, postnatal functional defects in the human population, and to the identification of prenatal factors and biological mechanisms that reduce these risks. Adverse reproductive and developmental outcomes may have genetic, environmental, nutritional or epigenetic causes. Accordingly, the journal Birth Defects Research takes an integrated, multidisciplinary approach in its organization and publication strategy. The journal Birth Defects Research contains separate sections for clinical and molecular teratology, developmental and reproductive toxicology, and reviews in developmental biology to acknowledge and accommodate the integrative nature of research in this field. Each section has a dedicated editor who is a leader in his/her field and who has full editorial authority in his/her area.
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