Replicative study of hereditary thrombophilia factors and endothelial dysfunction in the development of preeclampsia

• Published in: Nauchno-prakticheskii zhurnal «Medicinskaia genetika
• Main Authors: V. N. Serebrova, E. A. Trifonova, A. Yu. Vorozhishcheva, V. A. Stepanov, В. Н. Сереброва, Е. А. Трифонова, А. Ю. Ворожищева, В. А. Степанов
• Format: Article in Journal/Newspaper
• Language: Russian
• Published: Publishing House «Genius Media» LLC 2022
• Subjects: ассоциативное исследование; single-nucleotide polymorphisms (SNPs); association study; однонуклеотидный полиморфный вариант (SNP); Yakuts
• Online Access: https://www.medgen-journal.ru/jour/article/view/2131; https://doi.org/10.25557/2073-7998.2022.08.44-46

We conducted a replicative associations analysis of the single-nucleotide polymorphisms of 8 most significant candidate genes of preeclampsia: rs1801133 in the MTHFR gene, rs1799963 in the F2 gene, rs6025 in the F5 gene, rs1799889 in the SERPINE1 gene, rs1799983 and VNTR in the NOS3 gene, rs3025000, rs3025010 and rs10434 in the VEGF gene, rs699 in the AGT gene, rs4646994 in the ACE gene. The results demonstrate а significant associations of preeclampsia with 5 SNP 6 genes: rs1799889 in the SERPINE1 gene and rs1799983 in the NOS3 gene in Buryats, Russians and Yakuts, VNTR in the NOS3 gene in Buryats, rs1801133 in the MTHFR gene, rs6025 in the F5 gene and rs3025010 in the VEGF gene in Russian. Проведен репликативный анализ ассоциаций однонуклеотидных полиморфных вариантов 8 наиболее значимых генов-кандидатов преклампсии: rs1801133 гена MTHFR, rs1799963 гена F2, rs6025 гена F5, rs1799889 гена SERPINE1, rs1799983 и VNTR гена NOS3, rs3025000, rs3025010 и rs10434 гена VEGF, rs699 гена AGT, rs4646994 гена ACE. Полученные результаты показали ассоциацию с развитием данной патологии шести SNP пяти генов: rs1799889 гена SERPINE1 и rs1799983 гена NOS3 у бурятов, русских и якутов, VNTR гена NOS3 у бурятов, rs1801133 гена MTHFR, rs6025 гена F5 и rs3025010 гена VEGF у русских.