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Aurora kinase genetic polymorphisms: an association study in Down syndrome and spontaneous abortion

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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 influence 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. Genotyping 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 significant difference 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.

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Acknowledgements

CML Castro thanks CAPES (Coordenação de Aperfeiçoamento de Pessoal de Nível Superior), for her scholarship in the Postgraduate Program in Neuroscience (Pós Graduação em Medicina, Neurologia/Neurociências), UFF. The authors would like to thank CAPES, FAPERJ (Fundação de Amparo à Pesquisa do Estado do Rio de Janeiro) and UFF (Universidade Federal Fluminense).

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Authors and Affiliations

  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

    Carolina Monteiro Leite de Castro, Carolina Oliveto Bastos Pereira, Joissy Aprigio & Márcia Rodrigues Amorim

  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

    Marcelo A. Costa Lima

  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

    Márcia G. Ribeiro

  4. Programa de Pós-Graduação em Medicina, Neurologia/Neurociências, HUAP, Universidade Federal Fluminense (UFF), Niterói, Rio de Janeiro, Brazil

    Carolina Monteiro Leite de Castro & Márcia Rodrigues Amorim

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  1. Carolina Monteiro Leite de Castro
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Correspondence to Márcia Rodrigues Amorim.

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The study protocol was approved by the Ethics Committee of Federal University of Rio de Janeiro (UFRJ) according to local regulations (approval number CEP/IPPMG 41/10). This study was performed in line with the 1964 Helsinki Declaration.

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de Castro, C.M.L., Pereira, C.O.B., Aprigio, J. et al. Aurora kinase genetic polymorphisms: an association study in Down syndrome and spontaneous abortion. Human Cell 35, 849–855 (2022). https://doi.org/10.1007/s13577-022-00686-5

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