Epigenomics in Endocrinology and Nutrition Group, Epigenomics Unit, Instituto de Investigacion Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago de Compostela (CHUS/SERGAS), 15706 Santiago de Compostela, Spain.
Endocrinology and Nutrition Division, Complejo Hospitalario Universitario de Santiago de Compostela (CHUS/SERGAS), 15706 Santiago de Compostela, Spain.
Nutrients. 2022 Jun 29;14(13):2702. doi: 10.3390/nu14132702.
Polymorphisms of genes involved in the metabolism and transport of folate and cobalamin could play relevant roles in pregnancy outcomes. This study assessed the prevalence of genetic polymorphisms of folate and cobalamin metabolism-related genes such as MTHFR, MTR, CUBN, and SLC19A1 in pregnant women of a homogeneous Spanish population according to conception, pregnancy, delivery, and newborns complications. This study was conducted on 149 nulliparous women with singleton pregnancies. Sociodemographic and obstetrics variables were recorded, and all patients were genotyped in the MTHFR, MTR, CUBN, and SLC10A1 polymorphisms. The distribution of genotypes detected in this cohort was similar to the population distribution reported in Europe, highlighting that more than 50% of women were carriers of risk alleles of the studied genes. In women with the MTHFR risk allele, there was a statistically significant higher frequency of assisted fertilisation and a higher frequency of preeclampsia and preterm birth. Moreover, CUBN (rs1801222) polymorphism carriers showed a statistically significantly lower frequency of complications during delivery. In conclusion, the prevalence of genetic variants related to folic acid and vitamin B12 metabolic genes in pregnant women is related to mother and neonatal outcomes. Knowing the prevalence of these polymorphisms may lead to a personalised prescription of vitamin intake.
参与叶酸和钴胺素代谢和转运的基因多态性可能在妊娠结局中发挥重要作用。本研究根据受孕、妊娠、分娩和新生儿并发症评估了同质西班牙人群中叶酸和钴胺素代谢相关基因（如 MTHFR、MTR、CUBN 和 SLC19A1）的遗传多态性的流行率。本研究纳入了 149 名初产妇的单胎妊娠。记录了社会人口统计学和产科变量，所有患者均在 MTHFR、MTR、CUBN 和 SLC10A1 多态性中进行了基因分型。在该队列中检测到的基因型分布与欧洲报道的人群分布相似，突出表明超过 50%的女性是研究基因风险等位基因的携带者。在携带 MTHFR 风险等位基因的女性中，辅助受精的频率明显更高，子痫前期和早产的频率也更高。此外，CUBN(rs1801222)多态性携带者在分娩期间出现并发症的频率明显较低。总之，孕妇叶酸和维生素 B12 代谢基因相关遗传变异的流行率与母婴结局有关。了解这些多态性的流行率可能会导致个性化的维生素摄入处方。
