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TP73基因多态性(rs4648551,A>G)与卵巢储备功能下降有关。

The TP73 gene polymorphism (rs4648551, A>G) is associated with diminished ovarian reserve.

作者信息

Vagnini Laura Diniz, Renzi Adriana, Oliveira-Pelegrin Gabriela Ravanelli, Canas Maria do Carmo Tomitão, Petersen Claudia Guilhermino, Mauri Ana Lucia, Oliveira João Batista Alcantara, Baruffi Ricardo Luiz Razera, Cavagna Mario, Franco Junior José Gonçalves

机构信息

Paulista Center for Diagnosis, Research and Training, Ribeirão Preto, São Paulo, Brazil.

Center for Human Reproduction Prof. Franco Jr, Ribeirão Preto, São Paulo, Brazil.

出版信息

PLoS One. 2015 Mar 20;10(3):e0120048. doi: 10.1371/journal.pone.0120048. eCollection 2015.

Abstract

It's known that the members of the TP53 family are involved in the regulation of female reproduction. Studies in mice showed that the TP73 gene (member of this family) plays a role in the size of follicular pool, ovulation rate and maintenance of genomic stability. In the present study we analyzed data from 605 patients with ≤ 37 years attending their first intracytoplasmic sperm injection (ICSI). The association between the TP73 polymorphism (rs4648551, A>G) and the following parameters related to ovarian reserve, like age, antral follicular count (AFC), anti-Mullerian hormone levels (AMH) and ovarian response prediction index (ORPI) was evaluated. Our results showed an association of the AA genotype with diminished ovarian reserve (AMH <1, AFC ≤9). Women presenting the AA genotype had a 2.0-fold increased risk for having AMH <1 and AFC ≤9 (OR 2.0, 95% CI 1.23-3.31, P = 0.005). Patients presenting AA genotype had the lowest levels of AMH (P = 0.02), the lowest number of antral follicles (P = 0.01) and the lowest ORPI (P = 0.007). Analyzing the alleles, we can see an enrichment of the A allele in the group of diminished ovarian reserve (OR 1.4, 95%CI 1.02-1.83, P = 0.04). To the best of our knowledge, the present study is the first to analyze this polymorphism in humans for assessing the numbers of ovarian follicles and AMH levels and, therefore, the ovarian reserve. Our findings can contribute to the use of this polymorphism as a potential marker of diminished ovarian reserve.

摘要

已知TP53家族成员参与女性生殖的调节。对小鼠的研究表明,TP73基因(该家族成员)在卵泡池大小、排卵率和基因组稳定性维持方面发挥作用。在本研究中,我们分析了605名年龄≤37岁且首次接受卵胞浆内单精子注射(ICSI)患者的数据。评估了TP73基因多态性(rs4648551,A>G)与以下卵巢储备相关参数之间的关联,这些参数包括年龄、窦卵泡计数(AFC)、抗苗勒管激素水平(AMH)和卵巢反应预测指数(ORPI)。我们的结果显示AA基因型与卵巢储备功能下降(AMH<1,AFC≤9)有关。携带AA基因型的女性AMH<1且AFC≤9的风险增加了2.0倍(OR 2.0,95%CI 1.23 - 3.31,P = 0.005)。携带AA基因型的患者AMH水平最低(P = 0.02),窦卵泡数量最少(P = 0.01),ORPI最低(P = 0.007)。分析等位基因时,我们发现卵巢储备功能下降组中A等位基因富集(OR 1.4,95%CI 1.02 - 1.83,P = 0.04)。据我们所知,本研究是首次在人类中分析这种多态性以评估卵巢卵泡数量和AMH水平,从而评估卵巢储备功能。我们的发现有助于将这种多态性用作卵巢储备功能下降的潜在标志物。

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