Gomes Flavia Gobetti, Boquett Juliano André, Kowalski Thayne Woycinck, Bremm João Matheus, Michels Marcus Silva, Pretto Luiza, Rockenbach Marília Körbes, Vianna Fernanda Sales Luiz, Schuler-Faccini Lavinia, Sanseverino Maria Teresa Vieira, Fraga Lucas Rosa
Universidade Federal do Rio Grande do Sul (UFRGS), Instituto de Biociências, Departamento de Genética, Programa de Pós-Graduação em Genética e Biologia Molecular, Porto Alegre, RS, Brazil.
Universidade Federal do Rio Grande do Sul (UFRGS), Faculdade de Medicina, Programa de Pós-Graduação em Saúde da Criança e do Adolescente, Porto Alegre, RS, Brazil.
Genet Mol Biol. 2024 Aug 26;46(3 Suppl 1):e20230127. doi: 10.1590/1678-4685-GMB-2023-0127. eCollection 2024.
Human reproduction goes through many challenges to its success and in many cases it fails. Cases of pregnancy loss are common outcomes for pregnancies, and implantation failures (IF) are common in assisted reproduction attempts. Although several risk factors have already been linked to adverse outcomes in reproduction, many cases remain without a definitive cause. Genetics of female reproduction is a field that may bring some pieces of this puzzle; however, there are no well-defined genes that might be related to the risk for recurrent pregnancy loss (RPL) and IF. Here, we present a literature review of the studies of genetic association in RPL and IF carried out in the Brazilian population and complemented with a database search to explore genes previously related to RPL and IF, where a search for genes previously involved in these conditions was performed in OMIM, HuGE, and CTD databases. Finally, we present the next steps for reproductive genetics investigation, through genomic sequencing analyses and discuss future plans in the study of RPL genetics. The combined strategy of looking for literature and databases is useful to raise hypotheses and to identify underexplored genes related to RPL and IF.
人类生殖在走向成功的过程中面临诸多挑战，且在很多情况下会失败。妊娠丢失是妊娠常见的结果，而植入失败在辅助生殖尝试中很常见。尽管已有若干风险因素与生殖不良结局相关，但许多病例仍无明确病因。女性生殖遗传学这一领域或许能为解开部分谜团提供线索；然而，尚无明确界定的基因可能与复发性妊娠丢失（RPL）和植入失败（IF）的风险相关。在此，我们对巴西人群中开展的RPL和IF遗传关联研究进行文献综述，并辅以数据库检索，以探索先前与RPL和IF相关的基因，即在在线人类孟德尔遗传数据库（OMIM）、人类基因环境（HuGE）和比较毒理基因组学数据库（CTD）中搜索先前涉及这些情况的基因。最后，我们介绍通过基因组测序分析进行生殖遗传学研究的后续步骤，并讨论RPL遗传学研究的未来计划。查找文献和数据库的联合策略有助于提出假设并识别与RPL和IF相关但未充分探索的基因。
