Nguyen Ngoc Nhat, Tran Ngoc Thao My, Trieu Tien Sang, Vu Tung Son, Le Hoang, Ho Sy Hung, Nguyen Thanh Tung, Trinh The Son
Military Institute of Clinical Embryology and Histology, Vietnam Military Medical University, Hanoi, 12108, Vietnam.
Département de formation Biologie moléculaire et cellulaire, Sorbonne University, Paris, 75006, France.
Appl Clin Genet. 2022 Jun 7;15:55-62. doi: 10.2147/TACG.S365281. eCollection 2022.
To investigate the relationship between unexplained recurrent pregnancy loss (URPL) and polymorphisms of homocysteine metabolism-related genes in women.
A case-control study included 90 women with two or more consecutive unexplained pregnancy losses and 92 controlled women without miscarriage history; the female participants were in the age category of 18-35 years. The high-resolution melting technique was used to detect the single-nucleotide variants related to homocysteine metabolism disorder, namely C677T, A1298C, A2756G, and A66G polymorphism.
The C677T polymorphism had significantly correlation with URPL. Indeed, the frequency of the677T allele and genotypes (677CT, 677TT) in the URPL group was significantly higher than that in the control group (p < 0.05). However, the allele, as well as genotype distribution of A1298C, A2756G, and A66G polymorphisms showed no significant difference (p > 0.05). 677CT-1298AC genotype combination led to a 9.0-fold increased risk of URPL (OR 9.0; 95% CI, 2.25-35.99; p = 0.001), while the risk increased 10.0-fold (OR 10.0; 95% CI, 1.8-55.53; p = 0.008) when participants had more than the 3 variant loci.
The C677T polymorphism was a risk factor for URPL, and determining the C677T polymorphism had a potential prediction of URPL risk. Moreover, the C677T and A1298C joint mutants might have a synergistic effect on URPL. Conversely, there is a lack of evidence suggesting the URPL risk of A1298C, A2756G, and A66G polymorphisms.
探讨不明原因复发性流产（URPL）与女性同型半胱氨酸代谢相关基因多态性之间的关系。
一项病例对照研究纳入了90例有两次或更多次连续不明原因流产的女性和92例无流产史的对照女性；女性参与者年龄在18 - 35岁之间。采用高分辨率熔解技术检测与同型半胱氨酸代谢紊乱相关的单核苷酸变异，即C677T、A1298C、A2756G和A66G多态性。
C677T多态性与URPL显著相关。实际上，URPL组中677T等位基因及基因型（677CT、677TT）的频率显著高于对照组（p < 0.05）。然而，A1298C、A2756G和A66G多态性的等位基因及基因型分布无显著差异（p > 0.05）。677CT - 1298AC基因型组合使URPL风险增加9.0倍（OR 9.0；95% CI，2.25 - 35.99；p = 0.001），而当参与者有超过3个变异位点时，风险增加10.0倍（OR 10.0；95% CI，1.8 - 55.53；p = 0.008）。
C677T多态性是URPL的一个危险因素，检测C677T多态性对URPL风险具有潜在的预测作用。此外，C677T和A1298C联合突变可能对URPL有协同作用。相反，缺乏证据表明A1298C、A2756G和A66G多态性与URPL风险有关。
