Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genome Research Institute, NationalResearch Centre, Cairo, Egypt.
Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National ResearchCentre, Cairo, Egypt.
Mol Biol Rep. 2024 Sep 9;51(1):971. doi: 10.1007/s11033-024-09860-4.
In light of several epidemiological studies, the etiology of recurrent pregnancy loss is complex. One of the most frequent causes of women experiencing inexplicable recurrent pregnancy loss is maternal thrombophilia. Hence, the association between genetic polymorphisms causing thrombophilia and recurrent pregnancy loss needs to be explored.
Is to study the relation of polymorphisms affecting folate pathway mainly, 5-Methytetrahydrofolate-Homocysteine Methyltransferase (MTR A2756G) and 5-Methytetrahydrofolate-Homocysteine MethyltransferaseReductase (MTRR A66G) with recurrent pregnancy loss.
It is a case-control study. Four hundred participants were enrolled. Two hundred participants with unexplained recurrent pregnancy loss (case group) and two hundred healthy fertile participants (control group). All participants were screened for (MTR A2756G) and (MTRR A66G). DNA was extracted using salting out method followed by genotyping via Real-time PCR.
Mutant homozygous genotype (GG) in MTRR A66G was statistically significantly among RPL group in comparison to controls. (GG vs. AA) had odds ratio and confidence interval of 1.22(1.12-2.23), P = 0.012. (GG) increased the liability 1.2 folds for recurrent pregnancy loss. Mutant homozygous genotype (GG) in MTR A2756G was not correlated with the risk of recurrent pregnancy loss. (GG vs.AA) = (1.13(0.56-2.29)), P = 0.7 CONCLUSION: MTRR A66G increases susceptibly for recurrent pregnancy loss among Egyptian women.
鉴于几项流行病学研究,复发性妊娠丢失的病因较为复杂。导致女性出现不明原因复发性妊娠丢失的最常见原因之一是母体血栓形成倾向。因此,需要探讨导致血栓形成倾向的遗传多态性与复发性妊娠丢失之间的关系。
主要研究影响叶酸途径的多态性,即 5-甲基四氢叶酸-同型半胱氨酸甲基转移酶(MTR A2756G)和 5-甲基四氢叶酸-同型半胱氨酸甲基转移酶还原酶(MTRR A66G)与复发性妊娠丢失的关系。
这是一项病例对照研究。共纳入 400 名参与者。其中 200 名患有不明原因复发性妊娠丢失(病例组),200 名健康的生育能力参与者(对照组)。所有参与者均进行(MTR A2756G)和(MTRR A66G)筛查。采用盐析法提取 DNA,然后通过实时 PCR 进行基因分型。
与对照组相比,MTRR A66G 的突变纯合基因型(GG)在 RPL 组中具有统计学意义。(GG 与 AA)的比值比和置信区间为 1.22(1.12-2.23),P=0.012。(GG)使复发性妊娠丢失的易感性增加了 1.2 倍。MTR A2756G 的突变纯合基因型(GG)与复发性妊娠丢失的风险无关。(GG 与 AA)=(1.13(0.56-2.29)),P=0.7
MTRR A66G 增加了埃及女性复发性妊娠丢失的易感性。