Vol.:(0123456789) 1 3 Human Cell (2022) 35:849–855 https://doi.org/10.1007/s13577-022-00686-5 RESEARCH ARTICLE Aurora kinase genetic polymorphisms: an association study in Down syndrome and spontaneous abortion Carolina Monteiro Leite de Castro 1,4  · Carolina Oliveto Bastos Pereira 1  · Joissy Aprigio 1  · Marcelo A. Costa Lima 2  · Márcia G. Ribeiro 3  · Márcia Rodrigues Amorim 1,4 Received: 15 November 2021 / Accepted: 10 February 2022 / Published online: 26 February 2022 © The Author(s) under exclusive licence to Japan Human Cell Society 2022 Abstract Aneuploidies, such as Down syndrome (DS), are the leading cause of pregnancy loss. Abnormalities in aurora kinase proteins result in genomic instability and aneuploidy, mainly in tumors. Thus, polymorphisms in Aurora kinase genes could infuence the occurrence of DS and spontaneous abortion. A case-control study was conducted including 124 mothers of DS children (DSM) and 219 control mothers (CM) to investigate DS risk according to AURKA and AURKC polymorphisms. Genotyp- ing was performed using TaqMan real-time PCR. The minor allele frequency (MAF) observed in AURKA rs2273535 was, respectively, 0.23 in DSM and 0.20 in CM, whereas the frequency of the AURKC rs758099 T allele was 0.32 in case and 0.33 in control mothers. Statistical analysis showed no signifcant diference in the distribution of genotypes and allele frequencies between DSM and CM. According to previous history of spontaneous abortion, the AURKA rs2273535 genotypes (TT + AT vs. AA: OR 2.54, 95% CI 1.13–5.71, p = 0.02; AT vs. AA: OR 2.39, 95% CI 1.03–5.51, p = 0.04; T vs. A: OR 2.08, 95% CI 1.12–3.90, p = 0.02) and AURKC rs758099 (TT vs. CC: OR 4.34, 95% CI 1.03–18.02, p = 0.04; TT + CT vs. CC: OR 2.52, 95% CI 1.02–6.23, p = 0.04; T vs. C: OR 2.03, 95% CI 1.09–3.80, p = 0.02) were observed as risk factors for spontaneous abortion in case mothers. Our study suggests a possible relationship between AURKA/AURKC variants and increased risk of spontaneous abortion within Down syndrome mothers. Keywords Down syndrome · AURKA · AURKC · Aneuploidy · Polymorphisms Introduction Aneuploidy is the most frequent chromosome abnormality in humans, occurring in at least 10% of all pregnancies [1]. This genetic imbalance originated from non-disjunction of chromosomes, results frequently in monosomies and tri- somies. Aneuploidy is the leading cause of miscarriages, chromosomes 16, 21 and 22 account for almost 50% of all trisomies identifed in spontaneous abortion. In conceptions that survive to term, aneuploidy is the commonest cause of intellectual and developmental disabilities [1, 2]. Down syndrome (DS) is the most prevalent viable ane- uploidy worldwide. Its occurrence is most commonly a result of an extra chromosome 21 which emerges from a meiotic missegregation, especially during maternal meio- sis I (MI) division. This syndrome may also occur due to Robertsonian translocation or mosaicism [2, 3]. Advanced maternal age at conception is a well-known risk factor for pregnancy loss and trisomies, including DS [ 4, 5]. However, the molecular mechanisms of chromosomal * Márcia Rodrigues Amorim marciaamorim@id.uf.br 1 Laboratório de Genética Humana, Departamento de Biologia Geral, Instituto de Biologia, Universidade Federal Fluminense, Rua Prof. Marcos Waldemar de Freitas Reis- São Domingos, Niterói, RJ 24210-201, Brazil 2 Departamento de Genética, Instituto de Biologia Roberto Alcântara Gomes, Universidade do Estado do Rio de Janeiro, Rua São Francisco Xavier 524, PHLC, Maracanã, Rio de Janeiro, RJ 20550-900, Brazil 3 Instituto de Puericultura e Pediatria Martagão Gesteira, Universidade Federal do Rio de Janeiro, Rua Bruno Lobo 50, Cidade Universitária-Ilha Do Fundão, Rio de Janeiro, RJ 21941-912, Brazil 4 Programa de Pós-Graduação em Medicina, Neurologia/Neurociências, HUAP, Universidade Federal Fluminense (UFF), Niterói, Rio de Janeiro, Brazil