Ziółkowska Katarzyna, Toboła-Wróbel Kinga, Pietryga Marek, Kasprzak Grażyna, Jamsheer Aleksander, Wysocka Ewa
Department of Laboratory Diagnostics, Poznan University of Medical Sciences, 61-701 Poznan, Poland.
Prenatal Diagnostic Centre, Gynaecology and Obstetrics Hospital, Poznan University of Medical Sciences, 61-701 Poznan, Poland.
J Clin Med. 2022 Feb 23;11(5):1190. doi: 10.3390/jcm11051190.
Are the maternal gene variants MTHFR: c.665C>T, MTHFR: c.1286A>C, MTR: c.2756A>G, MTRR: c.66A>G, RFC1: c.80C>T and TCN2: c.776G>C and blood markers of the folate pathway important factors in assessing the risk of fetal trisomy 21 (fetal-T21)? Twenty pregnant women with a high risk and twenty with a low risk of fetal-T21 underwent prenatal examination. Selected gene variants and folate pathway markers and pregnancy-associated plasma protein A (PAPP-A) and free β-subunit of human chorionic gonadotropin β (free-β-hCG) multiple of the medians (MoMs) were determined. The distributions of the alternative alleles and genotypes of the gene variants did not differ between the studied groups. There was no relationship between PAPP-A and β-hCG MoM values and the presence of allele alternative genotype variants. The occurrence of alternative variants of the selected genes and concentrations of most of the studied folate pathway markers may not play a crucial role in the risk of fetal-T21 in pregnant women. However, the relationships between erythrocyte folate concentrations and the occurrence of alternative variants: c.665C>T MTHFR and c.776G>C TCN2, as well as the methylmalonic acid concentration and the occurrence of alternative variant c.776G>C TCN2 in pregnant women with fetal-T21, encourage further research. So far, of the biochemical markers, maternal PAPP-A and β-hCG MoM values remain independent risk factors for fetal-T21.
母体基因变异MTHFR：c.665C>T、MTHFR：c.1286A>C、MTR：c.2756A>G、MTRR：c.66A>G、RFC1：c.80C>T和TCN2：c.776G>C以及叶酸途径的血液标志物是否是评估胎儿21三体综合征（胎儿-T21）风险的重要因素？20名胎儿-T21高风险孕妇和20名低风险孕妇接受了产前检查。测定了选定的基因变异、叶酸途径标志物以及妊娠相关血浆蛋白A（PAPP-A）和人绒毛膜促性腺激素β游离亚基（游离β-hCG）中位数倍数（MoMs）。研究组之间基因变异的替代等位基因和基因型分布没有差异。PAPP-A和β-hCG MoM值与等位基因替代基因型变异的存在之间没有关系。选定基因的替代变异的发生以及大多数研究的叶酸途径标志物的浓度可能在孕妇胎儿-T21风险中不起关键作用。然而，红细胞叶酸浓度与替代变异c.665C>T MTHFR和c.776G>C TCN2的发生之间的关系，以及甲基丙二酸浓度与胎儿-T21孕妇中替代变异c.776G>C TCN2的发生之间的关系，促使进一步研究。到目前为止，在生化标志物中，母体PAPP-A和β-hCG MoM值仍然是胎儿-T21的独立风险因素。
