APPLICATION OF NGS METHOD FOR ACVR2A GENE SEQUENCING IN WOMEN WITH PREECLAMPSIA

A.S. Glotov (1,2), E.S. Vashukova (1), M.M. Danilova (1,2), V.S. Pakin (1), A.E. Masharsky (2), P.V. Fedotov (3), M.S. Zainulina (1), O.N. Arzhanova (1), E.V. Mozgovaya (1), V.S. Baranov (1,2)
1 -D.O. Ott Research Institute of Obstetrics and Gynecology, Mendeleevskaya line, 3, Saint-Petersburg, Russian Federation, 199034;
2 -Saint Petersburg State University, Universitetskaya nab, 7–9, Saint-Petersburg, Russian Federation, 199034;
3 -Saint Petersburg National Research University of Information Technologies, Mechanics and Optics, Kronverkskiy pr., 49, Saint-Petersburg, Russian Federation, 197101

Introduction. Preeclampsia is one of the most frequent complications of pregnancy. Disease is based on the pathology of the vascular system of a pregnant woman. One of the candidate genes of preeclampsia is a gene encoding a protein receptor type 2A to activin A. Functions ACVR2A gene product correspond to well known pathophysiological mechanisms of preeclampsia. Previously five SNP (rs10497025, rs13430086 and LF004, LF013, LF020) in the ACVR2A gene – 2A receptor type to activin A, were shown to be associated with preeclampsia. The aim of the study was to explore opportunities for next-generation sequencing (NGS) method in primary nucleotide sequence of the gene ACVR2A, associated with the risk of preeclampsia in pregnant women. Methods. Analysis of ACVR2A gene in women with preeclampsia was performed by NGS method. Results. 484 single nucleotide variations were found, 129 of which were identified earlier. Variants annotation by «Gene-Talk» showed that 31 polymorphic locuses might be significantly associated with preeclampsia. Correlations between variants rs1364657, rs7601098, rs3820716 ACVR2A and proteinuria level, between rs7601098 and diastolic blood pressure (p
Keywords: 
next-generation sequencing (NGS), ACVR2A, pregnancy, preeclampsia