Trevisan Camila Martins, Peluso Carla, Cordts Emerson Barchi, de Oliveira Renato, Christofolini Denise Maria, Barbosa Caio Parente, Bianco Bianca
Human Reproduction and Genetics Center - Faculdade de Medicina do ABC, Santo André/SP, Brazil.
Cell Physiol Biochem. 2014;34(5):1527-35. doi: 10.1159/000366356. Epub 2014 Oct 9.
BACKGROUND/AIMS: It is known that some markers of ovarian stimulation can help to personalize the treatment, adjusting the dose of exogenous rFSH, thus preventing excessive wear of the patient. We aimed to evaluate Ala307Thr and Asn680Ser genotypes of the FSHR gene in infertile women and correlate the findings with the results of ovarian response and assisted reproduction outcomes.
Cross-sectional study covering 149 infertile women submitted to assisted reproduction treatment. Genotyping of FSHR variants were performed using TaqMan methodology by real time PCR. FSH and estradiol were measured by ELFA. The data was analyzed statistically.
The frequencies of the FSHR Ala307Thr and Asn680Ser genotypes considering the ovarian hyper stimulation response also did not differ statistically. Considering assisted reproduction outcomes, we observed that the polymorphism Ala307Thr have a statistical difference for the number of MII oocytes and embryos (p=0,051 and p=0.037, respectively), which the genotype Ala/Ala showed more embryos. The polymorphisms did not determine the FSH and estradiol serum levels and the ovarian response in the assisted reproduction treatment.
The polymorphisms Ala307Thr and Asn680Ser did not determine the FSH and estradiol serum levels and the ovarian response in the assisted reproduction treatment. However, we observed that the Ala307Thr may influence the number of embryos produced.
背景/目的：已知一些卵巢刺激标志物有助于个性化治疗，调整外源性重组促卵泡激素（rFSH）的剂量，从而避免患者过度负担。我们旨在评估不育女性中促卵泡激素受体（FSHR）基因的Ala307Thr和Asn680Ser基因型，并将研究结果与卵巢反应结果及辅助生殖结局相关联。
对149名接受辅助生殖治疗的不育女性进行横断面研究。采用实时荧光定量PCR的TaqMan方法对FSHR基因变异进行基因分型。通过酶联荧光分析（ELFA）测定促卵泡激素（FSH）和雌二醇水平。对数据进行统计学分析。
考虑到卵巢过度刺激反应，FSHR基因Ala307Thr和Asn680Ser基因型的频率在统计学上也无差异。考虑辅助生殖结局，我们观察到Ala307Thr多态性在MII期卵母细胞和胚胎数量上存在统计学差异（分别为p = 0.051和p = 0.037），其中Ala/Ala基因型的胚胎更多。这些多态性并未决定辅助生殖治疗中FSH和雌二醇的血清水平以及卵巢反应。
Ala307Thr和Asn680Ser多态性并未决定辅助生殖治疗中FSH和雌二醇的血清水平以及卵巢反应。然而，我们观察到Ala307Thr可能会影响产生的胚胎数量。
