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http://hdl.handle.net/10668/11094| 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 Aromatase Case-Control Studies Estrogen Receptor alpha Fetus Humans 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 |
| URI: | http://hdl.handle.net/10668/11094 |
| metadata.dc.identifier.doi: | 10.1016/j.rbmo.2017.03.011 |
| Appears in Collections: | Producción 2020 |
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