Genetic and Environmental Determinants of Spontaneous Preterm Birth: Focus on Progesterone Receptor Gene Variants

Preterm birth (PTB) is a leading cause of neonatal morbidity and mortality worldwide. This study investigated six single-nucleotide polymorphisms (SNPs) in the maternal and fetal progesterone receptor (PGR) gene and their association with spontaneous PTB, considering environmental and clinical risk factors. We conducted a case-control study including two groups of pregnant women (term and preterm, 292 in total) and two groups of newborns (term and preterm, 292 in total), and analyzed PGR variants (rs1042838, rs1042839, rs10895068, rs4574732, rs653752, and rs1942836) in relation to maternal age, fetal gender, and pregnancy complications such as vaginal bleeding. Results showed that PGR SNPs rs1942836 (OR 0.38, CI 95% 0.15-0.98, p = 0.03), rs4574732 (OR 2.4, CI 95% 1.01-5.57, p = 0.04), and rs653752 (OR 2.27, CI 95% 1.19-4.34, p = 0.02) were associated with PTB when considered in the context of clinical factors, highlighting gene-environment interactions. Our findings underscore the importance of integrating genetic and clinical information for a better understanding of PTB risk.