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候选单核苷酸多态性在反复着床失败(RIF)和妊娠丢失(RPL)患者中的 、 、 、 和 的发生率。

Prevalence of candidate single nucleotide polymorphisms on , , , and in patients with repeated implantation failure (RIF) and pregnancy loss (RPL).

机构信息

Molecular Biology, Instituto Bernabeu Biotech, Alicante, Spain.

Reproductive medicine, Instituto Bernabeu, Alicante, Spain.

出版信息

Hum Fertil (Camb). 2020 Jun;23(2):117-122. doi: 10.1080/14647273.2018.1524935. Epub 2018 Oct 18.

Abstract

Recurrent pregnancy loss (RPL; defined as the loss of three or more consecutive pregnancies) and recurrent implantation failure (RIF; when implantation is not achieved after at least three cycles of IVF) are two of the major challenges that reproductive medicine faces. Some polymorphisms have been identified as possible causes of an increased risk of these diseases. This paper studies the prevalence of the polymorphisms in , , -, - and in RIF and RPL patients that determines the risk for these pathologies. A total of 255 patients were selected (89 RPL patients, 77 RIF patients and 89 controls) and genotyped for ; ; ; ; ; . Statistically significant differences were found in the prevalence of the E4 isoform (R122-R158) of the gene in RPL patients ( < 0.05), and in RIF patients, the R72P polymorphism of the gene and the 1154-AG of the gene showed different distribution ( < 0.05). Regarding the and studied polymorphisms, PP of gene and GG of are more prevalent in RPL patients without reaching statistical significance. In conclusion, our results suggest patients carrying variants in and would be at risk of RIF, and those carrying variants in gene would suffer RPL.

摘要

复发性妊娠丢失(RPL;定义为连续三次或更多次妊娠丢失)和复发性植入失败(RIF;当至少三个周期的体外受精后仍未着床时)是生殖医学面临的两大挑战。一些多态性已被确定为这些疾病风险增加的可能原因。本文研究了 RIF 和 RPL 患者中 、 、 、 、 多态性的流行情况,这些多态性决定了这些病理的风险。共选择了 255 名患者(89 名 RPL 患者、77 名 RIF 患者和 89 名对照),并对 、 、 、 、 进行基因分型。在 RPL 患者中, 基因的 E4 同工型(R122-R158)的流行率存在统计学差异(<0.05),在 RIF 患者中, 基因的 R72P 多态性和 基因的 1154-AG 显示出不同的分布(<0.05)。关于研究的 和 多态性, 基因的 PP 和 基因的 GG 在 RPL 患者中更为常见,但无统计学意义。总之,我们的结果表明,携带 基因和 基因变体的患者将有患 RIF 的风险,而携带 基因变体的患者将患有 RPL。

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