RT Journal Article
T1 Fetal alpha 5-reductase Val89Leu mutation is associated with late miscarriage
A1 Pérez-Nevot, Beatriz
A1 Royo-Sánchez-Palencia, José Luis
A1 Cortés, Miriam
A1 Lenzínez, Ana M
A1 Reyes Palomares, Arturo
A1 Jiménez, Ana José
A1 Ruiz-Galdón, Maximiliano
A1 Reyes-Engel, Armando
K1 Aborto espontáneo - Causas
AB 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.
PB Elsevier
YR 2017
FD 2017-06
LK https://hdl.handle.net/10630/44770
UL https://hdl.handle.net/10630/44770
LA eng
NO 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)
DS RIUMA. Repositorio Institucional de la Universidad de Málaga
RD 4 mar 2026