RT Journal Article
T1 Fetal alpha 5-reductase Val89Leu mutation is associated with late miscarriage.
A1 Perez-Nevot, Beatriz
A1 Royo, Jose-Luis
A1 Cortes, Miriam
A1 Lendinez, Ana M
A1 Reyes-Palomares, Arturo
A1 Jimenez, Ana-Jose
A1 Ruiz-Galdon, Maximiliano
A1 Reyes-Engel, Armando
K1 CYP19A1
K1 ESR1
K1 Miscarriage
K1 SRD5A2
K1 Spontaneous pregnancy loss
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 2017-03-21
LK http://hdl.handle.net/10668/11094
UL http://hdl.handle.net/10668/11094
LA en
NO Pérez-Nevot B, Royo JL, Cortés M, Lendínez AM, Reyes-Palomares A, Jiménez AJ, et al. Fetal alpha 5-reductase Val89Leu mutation is associated with late miscarriage. Reprod Biomed Online. 2017 Jun;34(6):653-658
NO The present study was supported by the Ministry of Health (Spain) project number SAF 2008.
DS RISalud
RD Apr 17, 2025