Department of Obstetrics and Gynecology, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
Bundang Cheil Women's Hospital, Seongnam, Korea.
J Korean Med Sci. 2022 Nov 28;37(46):e336. doi: 10.3346/jkms.2022.37.e336.
Single nucleotide polymorphisms (SNPs) are reportedly associated with repeated abortion. Thus, genetic analysis based on race is the key to developing accurate diagnostic tests. This study analyzed the genetic polymorphisms of recurrent pregnancy loss (RPL) patients among Korean women compared to the controls.
In 53 women of RPL group and 50 controls, the genetic analysis was performed. The genotype distribution and allele frequency were analyzed statistically for the difference between the two groups. The association between each SNP marker and RPL risk was analyzed.
The genotypes of LEPR, endothelial nitric oxide synthase (eNOS), KDR, miR-27a, miR-449b, and tumor necrosis factor-alpha (TNF-α) were analyzed using odds ratio (OR) with 95% confidence intervals (CIs). Only the AG genotype of miR-449b (A>G) polymorphism showed significant association with the risk of RPL when compared to the AA genotype (OR, 2.39). The combination of GG/AG+GG/CA+AA genotypes for eNOS/miR-449b/TNF-α was associated with 7.36-fold higher risk of RPL (OR, 7.36). The GG/AG+GG combination for eNOS/miR-449b showed 2.43-fold higher risk for RPL (OR, 2.43). The combination of AG+GG/CA+AA genotypes for miR-449b/TNF-α showed a significant association with the risk of RPL (OR, 7.60). From the haplotype-based analysis, the G-G-A haplotype of eNOS/miR-449b/TNF-α and the G-A haplotype of miR-449b/TNF-α were associated with increased risk of RPL (OR, 19.31; OR, 22.08, respectively).
There is a significant association between the risk of RPL and miR-449b/TNF-α combination, and therefore, genetic analysis for specific combined genotypes can be an important screening method for RPL in Korean women.
单核苷酸多态性（SNP）据报道与反复流产有关。因此，基于种族的遗传分析是开发准确诊断测试的关键。本研究分析了与对照组相比，韩国女性复发性妊娠丢失（RPL）患者的遗传多态性。
在 53 名 RPL 组和 50 名对照组女性中进行了基因分析。对两组间基因型分布和等位基因频率进行了统计学分析。分析了每个 SNP 标记与 RPL 风险的关联。
使用优势比（OR）和 95%置信区间（CI）分析了 LEPR、内皮型一氧化氮合酶（eNOS）、KDR、miR-27a、miR-449b 和肿瘤坏死因子-α（TNF-α）的基因型。与 AA 基因型相比，miR-449b（A>G）多态性的 AG 基因型与 RPL 风险显著相关（OR，2.39）。eNOS/miR-449b/TNF-α 的 GG/AG+GG/CA+AA 基因型组合与 RPL 的 7.36 倍高风险相关（OR，7.36）。eNOS/miR-449b 的 GG/AG 组合与 RPL 的 2.43 倍高风险相关（OR，2.43）。miR-449b/TNF-α 的 AG+GG/CA+AA 基因型组合与 RPL 风险显著相关（OR，7.60）。从基于单倍型的分析中，eNOS/miR-449b/TNF-α 的 G-G-A 单倍型和 miR-449b/TNF-α 的 G-A 单倍型与 RPL 风险增加相关（OR，19.31；OR，22.08）。
RPL 风险与 miR-449b/TNF-α 组合之间存在显著关联，因此，针对特定组合基因型的遗传分析可能是韩国女性 RPL 的重要筛查方法。
