Urogenital Stem Cell Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Institute of Anatomy, University of Lübeck, Lübeck, Germany.
J Assist Reprod Genet. 2021 Sep;38(9):2405-2413. doi: 10.1007/s10815-021-02242-w. Epub 2021 May 29.
Unpredictability in acquiring an adequate number of high-quality oocytes following ovarian stimulation is one of the major complications in controlled ovarian hyperstimulation (COH). Genetic predispositions of variations could alter the immunological profiles and consequently be implicated in the variability of ovarian response to the stimulation.
Uncovering the influence of variations in AMHR2, LHCGR, MTHFR, PGR, and SERPINE1 genes with ovarian response to gonadotrophin stimulation in COH of infertile women.
Blood samples of the women with a good ovarian response (GOR) or with a poor ovarian response (POR) were collected. Genomic DNA was extracted, and gene variations were genotyped by TaqMan SNP Genotyping Assays using primer-probe sets or real-time PCR Kit.
Except for PGR (rs10895068), allele distributions demonstrate that the majority of POR patients carried minor alleles of AMHR2 (rs2002555, G-allele), LHCGR (rs2293275, G-allele), MTHFR (rs1801131, C-allele, and rs1801133, T-allele), and SERPINE1 (rs1799889, 4G allele) genes compared to the GOR. Similarly, genotypes with a minor allele in AMHR2, LHCGR, MTHFR, and SERPINE1 genes had a higher prevalence among POR patients with the polymorphic genotypes. However, further genotype stratification indicated that the minor alleles of these genes are not associated with poor response. Multivariate logistic analysis of clinical-demographic factors and polymorphic genotypes demonstrated a correlation between FSH levels and polymorphic genotypes of SERPINE1 in poor response status.
Despite a higher prevalence of AMHR2, LHCGR, MTHFR, and SERPINE1 variations in the patients with poor ovarian response, it seems that these variations are not associated with the ovarian response.
在控制性卵巢过度刺激(COH)中,获得足够数量高质量卵母细胞的不可预测性是主要并发症之一。变异的遗传倾向可能改变免疫谱,并因此影响卵巢对刺激的反应变异性。
揭示 AMHR2、LHCGR、MTHFR、PGR 和 SERPINE1 基因变异对 COH 中不孕妇女促性腺激素刺激卵巢反应的影响。
收集卵巢反应良好(GOR)或卵巢反应不良(POR)患者的血液样本。提取基因组 DNA,使用 TaqMan SNP 基因分型检测试剂盒或实时 PCR 试剂盒通过引物-探针组对基因变异进行基因分型。
除了 PGR(rs10895068)外,等位基因分布表明,大多数 POR 患者携带 AMHR2(rs2002555,G-等位基因)、LHCGR(rs2293275,G-等位基因)、MTHFR(rs1801131,C-等位基因和 rs1801133,T-等位基因)和 SERPINE1(rs1799889,4G 等位基因)基因的次要等位基因。同样,AMHR2、LHCGR、MTHFR 和 SERPINE1 基因的多态性基因型中的次要等位基因在 POR 患者中更为常见。然而,进一步的基因型分层表明这些基因的次要等位基因与不良反应无关。对临床-人口统计学因素和多态性基因型的多变量逻辑分析表明,FSH 水平与 SERPINE1 多态性基因型与不良反应状态之间存在相关性。
尽管在卵巢反应不良的患者中 AMHR2、LHCGR、MTHFR 和 SERPINE1 变异的患病率较高,但这些变异似乎与卵巢反应无关。