2026-06-02T07:25:01Zhttps://riuma.uma.es/rest/oai/request

oai:riuma.uma.es:10630/447702026-01-24T00:45:43Zcom_10630_2254col_10630_37953

00925njm 22002777a 4500 dc Pérez-Nevot, Beatriz author Royo-Sánchez-Palencia, José Luis author Cortés, Miriam author Lenzínez, Ana M author Reyes Palomares, Arturo author Jiménez, Ana José author Ruiz-Galdón, Maximiliano author Reyes-Engel, Armando author 2017-06 The present study was undertaken to determine the role of different polymorphisms affecting the testosterone/oestrogen pathway in miscarriage. Alpha 5-reductase (SRD5A2) rs523349 and rs9282858, cytochrome P450 aromatase (CYP19A1) rs4646, rs10046 and rs2236722 and oestrogen receptor (ESR1) rs9340799, rs2234693 and rs6932902 polymorphisms were selected. The case group consisted of 94 samples of formalin-fixed and paraffin-embedded fetal tissue from a miscarriage at ≤24 weeks. The control group comprised a population of 331 young healthy subjects. Only those single nucleotide polymorphisms (SNPs) fitting the Hardy–Weinberg equilibrium (n = 4) and euploid miscarriage samples (n = 67) were included for downstream analysis. Interestingly, SRD5A2 rs523349 (Val89Leu) was significantly associated with the risk of undergoing miscarriage after Bonferroni correction (odds ratio = 11.245, P < 2.2 × 10–9). Moreover, when Mantel–Cox regression analysis was performed, we observed that the effect was significantly constrained to the second trimester (P = 0.024, log rank). These results are compatible with an imbalance of testosterone/dihydrotestosterone, associated with a higher risk of miscarriage, especially in late pregnancy. Beatriz Pérez-Nevot, Jose-Luis Royo, Miriam Cortés, Ana M. Lendínez, Arturo Reyes-Palomares, Ana-José Jiménez, Maximiliano Ruiz-Galdón, Armando Reyes-Engel, Fetal alpha 5-reductase Val89Leu mutation is associated with late miscarriage, Reproductive BioMedicine Online, Volume 34, Issue 6, 2017, Pages 653-658, ISSN 1472-6483, https://doi.org/10.1016/j.rbmo.2017.03.011. (https://www.sciencedirect.com/science/article/pii/S1472648317301438) https://hdl.handle.net/10630/44770 10.1016/j.rbmo.2017.03.011 Aborto espontáneo - Causas Fetal alpha 5-reductase Val89Leu mutation is associated with late miscarriage