Paulista Centre for Diagnosis Research and Training, CPDP, Ribeirao Preto, Brazil.
Paulista Centre for Diagnosis Research and Training, CPDP, Ribeirao Preto, Brazil.
Eur J Obstet Gynecol Reprod Biol. 2022 Feb;269:132-137. doi: 10.1016/j.ejogrb.2021.08.034. Epub 2021 Oct 1.
To investigate the influence of the Single Nucleotide Polymorphisms (SNPs) TP53 rs1625895, TP73 rs3765730, MMP9 rs17576, and MTHFR rs868014 on ovarian reserve (OR) in infertile patients.
A prospective cross-sectional study was carried out in 145 infertile women. The patients were divided into two groups according to ovarian reserve, characterized by association between AMH levels and AFC:After patient distribution, both groups were compared (LOR X NOR) regarding the genotypes of the SNPs TP53 T/C rs1625895, TP73 G/A rs3765730, MMP9 Gln/Arg rs17576, and MTHFR A/G rs868014.
RESULT(S): The frequency of the TP53-T/T genotype was greater in the LOR and the TP53-C/C genotype was more frequent in patients with NOR. This association was confirmed by the frequency of alleles, where the presence of the T allele was significantly higher in patients who exhibited LOR (P = 0.0003). The frequency of the TP73-G/G genotype and of the G allele was higher in the LOR group (P = 0.01). Considering the MMP9 gene, the frequency of the Gln/Gln genotype was higher in the LOR group. However, the Gln/Arg genotype and the Arg allele prevailed in the NOR group (P = 0.006). The frequency of the MTHFR-A/A genotype was higher in the LOR group, whereas that of the MTHFR-GG genotype was higher in the NOR group. The presence of allele A was significantly higher in the LOR group (P = 0.002). The regression analysis shows that patients who present the TP53-T/T, TP73-G/G, MMP9-Gln/Gln, and MTHFR-A/A genotypes are 3.6X, 3.1X, 3.2X, and 3.7X more likely of having LOR, respectively. In addition, the association of the TP53/TT + TP73/GG genotypes increased the chance of women being included in the LOR group in 5.7-fold.
CONCLUSION(S): The genotypes TP53-T/T, TP73-G/G, MMP9-Gln/Gln, and MTHFR-A/A increase the chance of women to exhibit LOR. These polymorphisms could be useful as genetic markers of low ovarian reserve in infertile patients.
探讨 TP53 rs1625895、TP73 rs3765730、MMP9 rs17576 和 MTHFR rs868014 单核苷酸多态性（SNPs）对不孕患者卵巢储备（OR）的影响。
对 145 名不孕妇女进行前瞻性病例对照研究。根据 AMH 水平与 AFC 的相关性将患者分为两组：在患者分布后，对两组 SNP 基因型（TP53 T/C rs1625895、TP73 G/A rs3765730、MMP9 Gln/Arg rs17576 和 MTHFR A/G rs868014）进行 LOR×NOR 比值比（OR）比较。
在 LOR 组中，TP53-T/T 基因型的频率更高，而 NOR 组中 TP53-C/C 基因型更为常见。这种关联通过等位基因频率得到了证实，携带 T 等位基因的患者在 LOR 组中明显更高（P=0.0003）。在 TP73-G/G 基因型和 G 等位基因中，LOR 组的频率更高（P=0.01）。考虑到 MMP9 基因，LOR 组中 Gln/Gln 基因型的频率更高。然而，NOR 组中 Gln/Arg 基因型和 Arg 等位基因更为常见（P=0.006）。在 LOR 组中，MTHFR-A/A 基因型的频率更高，而在 NOR 组中，MTHFR-GG 基因型的频率更高。LOR 组中 A 等位基因的存在明显更高（P=0.002）。回归分析表明，携带 TP53-T/T、TP73-G/G、MMP9-Gln/Gln 和 MTHFR-A/A 基因型的患者发生 LOR 的可能性分别增加了 3.6 倍、3.1 倍、3.2 倍和 3.7 倍。此外，TP53/TT+TP73/GG 基因型的关联使女性纳入 LOR 组的几率增加了 5.7 倍。
TP53-T/T、TP73-G/G、MMP9-Gln/Gln 和 MTHFR-A/A 基因型增加了女性发生 LOR 的可能性。这些多态性可以作为不孕患者低卵巢储备的遗传标志物。
