SPONTANEOUS PRETERM BIRTH: GENETIC AND EPIGENETIC BASES AND SOCIOENVIRONMENTAL DETERMINANTS WITH EMPHASIS ON THE AMAZONIAN
DOI:
https://doi.org/10.56238/arev7n12-322Keywords:
Spontaneous Preterm Birth, Genetics, Epigenetics, Susceptibility Genes, Inflammation, Amazon, Maternal and Child HealthAbstract
Spontaneous preterm birth remains one of the main challenges in maternal and child health worldwide, contributing substantially to neonatal mortality and to short- and long-term adverse outcomes across the life course. Despite advances in obstetric and neonatal care, progress in the prevention of prematurity has been limited, reflecting the complexity of its determinants. Accumulated evidence indicates that spontaneous preterm birth results from the interaction of biological, genetic, epigenetic, and socioenvironmental factors, with particular emphasis on the early activation of inflammatory and immunological pathways. Genomic and multi-omic approaches have identified genes associated with gestational duration, predominantly within the maternal genome, although fetal contributions are also relevant in specific subgroups. In the Amazonian context, population-based studies consistently show an association between prematurity, inadequate prenatal care, and low birth weight, underscoring the importance of structural and environmental determinants. This review integrates international evidence on the genetics and epigenetics of spontaneous preterm birth with epidemiological findings from the Amazon region, highlighting gaps and perspectives for future research that is sensitive to territorial contexts.
Downloads
References
ALBERTON, A. M. et al. Prevalência e tendência temporal de prematuridade no Brasil e suas regiões: análise de dados do Sistema de Informações sobre Nascidos Vivos (SINASC), 2011–2021. Epidemiologia e Serviços de Saúde, v. 32, n. 4, p. e2022603, 2023.
BARBOSA, I. R. et al. Health impacts of forest fires in the Brazilian Amazon. Environmental Research, v. 182, p. 109341, 2020.
BRAVEMAN, P. Explaining the Black–White disparity in preterm birth. Frontiers in Reproductive Health, v. 3, p. 684207, 2021.
CAPPELLETTI, M. et al. Inflammation and preterm birth. Seminars in Fetal and Neonatal Medicine, v. 21, n. 2, p. 97 - 108, 2016. DOI: https://doi.org/10.1016/j.siny.2015.12.008
CABRAL, IVONE KETURA SILVA; CELLA, WILSANDREI; FREITAS, SILVIA R. S. Comportamento reprodutivo em mulheres ribeirinhas do Médio Solimões, Amazonas, Brasil. Saúde em debate, v.44, p.1060 - 1072, 2020. DOI: https://doi.org/10.1590/0103-1104202012709
CABRAL, IVONE KETURA SILVA; CELLA, WILSANDREI; FREITAS, Silvia Regina Sampaio Reproductive behavior of women from a rural community in Tefé, Amazonas, Brazil. Brazilian Journal of Biological Sciences, v.6, p.497 - 504, 2019. DOI: https://doi.org/10.21472/bjbs.061402
CARE, A. et al. Interventions to prevent preterm birth: a systematic review and network meta-analysis. BMJ, v. 377, p. e064593, 2022.
CELLA, WILSANDREI; MOURA, GEISE NOTENO; Cella, E.S.C; Freitas, Silvia RS; Silva Neto João Cândido André; Gazim, Z.C. Sexual and reproductive health of riverine women in the middle Solimões river region, western Amazon. Hygeia: Revista Brasileira de Geografia Médica e da Saúde, v. 21, p. e2144, 2025. DOI: https://doi.org/10.14393/Hygeia2174216
CHAWANPAIBOON, S. et al. Global, regional, and national estimates of preterm birth in 2014: a systematic review and modelling analysis. The Lancet Global Health, v. 7, n. 1, p. e37–e46, 2019. DOI: https://doi.org/10.1016/S2214-109X(18)30451-0
COSTA, C. S. R.; FREITAS, SILVIA R. S. Prevalência e fatores de risco associados à prematuridade em Alvarães, Amazonas In: CIÊNCIAS BIOLÓGICAS: Integrando o ensino e a pesquisa na sociedade amazônica.1 ed. Curitiba: Editora Appris Ltda., 2020, p. 225-240
D’AGATA, A. L. et al. A new patient population for adult clinicians: preterm born survivors. The Lancet Regional Health – Americas, v. 8, p. 100170, 2022. DOI: https://doi.org/10.1016/j.lana.2022.100188
GOMEZ-LOPEZ, N. et al. Transcriptome changes in maternal peripheral blood during term parturition mimic perturbations preceding spontaneous preterm birth. Scientific Reports, v. 11, p. 19678, 2021.
HACKBARTH, Bruna Barbosa et al. Suscetibilidade à prematuridade: investigação de fatores comportamentais, genéticos, médicos e sociodemográficos. Revista Brasileira de Ginecologia e Obstetrícia, v. 37, n. 8, p. 353-358, 2015. DOI: https://doi.org/10.1590/SO100-720320150005338
HACON, S. et al. Air pollution and health impacts in the Brazilian Amazon. Environmental Research, v. 147, p. 269–279, 2016.
JAIN, Viral G. et al. Genetics, epigenetics, and transcriptomics of preterm birth. American Journal of Reproductive Immunology, v. 88, n. 4, p. e13600, 2022. DOI: https://doi.org/10.1111/aji.13600
JONES, M. J.; GOODRICH, J. M. The role of epigenetics in preterm birth. Pediatric Research, v. 85, p. 1–7, 2019.
LEAL, M. C. et al. Atenção pré-natal no Brasil: avaliação, desafios e perspectivas. Rio de Janeiro: Editora Fiocruz, 2020.
MEAD, Elyse C. et al. The role of genetics in preterm birth. Reproductive Sciences, v. 30, n. 12, p. 3410-3427, 2023. DOI: https://doi.org/10.1007/s43032-023-01287-9
MELO, C.C.; FREITAS, SILVIA R. S. Prevalência de fatores de risco associados à prematuridade em cidades do Amazonas In: CIÊNCIAS BIOLÓGICAS: Integrando o ensino e a pesquisa na sociedade amazônica.1 ed. Curitiba: Editora Appris Ltda., 2020, p. 213-224.
OHUMA, E. O. et al. National, regional, and global estimates of preterm birth in 2020, with trends from 2010: a systematic analysis. The Lancet, 2023. DOI: https://doi.org/10.1016/S0140-6736(23)00878-4
OLIVEIRA, L. L.; SILVA, A. A. M.; BARBOSA, Y. S.; SANTOS, A. M. Prematuridade e fatores associados na Região Norte do Brasil: análise a partir do Sistema de Informações sobre Nascidos Vivos. Cadernos de Saúde Pública, v. 36, n. 3, p. e00012319, 2020.
SANTOS, R. S.; LEAL, M. C.; DOMINGUES, R. M. S. M.; GAMA, S. G. N. Fatores associados ao nascimento pré-termo no Brasil: análise de dados do SINASC. Revista Brasileira de Saúde Materno Infantil, v. 21, n. 2, p. 413–424, 2021.
TIENSUU, H. et al. Variants in genes involved in the immune response and placental function are associated with spontaneous preterm birth. Human Molecular Genetics, v. 28, n. 11, p. 1901–1914, 2019.
ZHANG, G. et al. Genetic associations with gestational duration and spontaneous preterm birth. The New England Journal of Medicine, v. 377, n. 12, p. 1156–1167, 2017.
ZHURABEKOVA, G. et al. Socioeconomic determinants of preterm birth. BMC Pregnancy and Childbirth, v. 24, 6984, 2024. DOI: https://doi.org/10.1186/s12884-024-06984-0
