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Title: Fetal alpha 5-reductase Val89Leu mutation is associated with late miscarriage.
Authors: Pérez-Nevot, Beatriz
Royo, Jose-Luis
Cortés, Miriam
Lendínez, Ana M
Reyes-Palomares, Arturo
Jiménez, Ana-José
Ruiz-Galdón, Maximiliano
Reyes-Engel, Armando
Keywords: CYP19A1;ESR1;Miscarriage;SRD5A2;Spontaneous pregnancy loss
metadata.dc.subject.mesh: 3-Oxo-5-alpha-Steroid 4-Dehydrogenase
Abortion, Spontaneous
Case-Control Studies
Estrogen Receptor alpha
Membrane Proteins
Polymorphism, Single Nucleotide
Issue Date: 21-Mar-2017
Abstract: 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
metadata.dc.identifier.doi: 10.1016/j.rbmo.2017.03.011
Appears in Collections:Producción 2020

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