转化生长因子-β信号通路基因多态性与不明原因复发性自然流产的相关性。
Correlation of TGF-β signaling pathway gene polymorphisms with unexplained recurrent spontaneous abortion.
机构信息
Department of Cytogenetic Laboratory, Children's Hospital of Shanxi, Women Health Center of Shanxi, Affiliated Hospital of Shanxi Medical University, Taiyuan, People's Republic of China.
Department of Paediatric Medicine, Shanxi Medical University, Taiyuan, People's Republic of China.
出版信息
Medicine (Baltimore). 2023 Oct 27;102(43):e35697. doi: 10.1097/MD.0000000000035697.
BACKGROUND
The association of key genes in the transforming growth factor-β (TGF-β) signaling pathway and their gene polymorphisms with unexplained recurrent spontaneous abortion (URSA) is unclear.
OBJECTIVE
To investigate the association of gene polymorphisms related to the TGF-β signaling pathway in URSA women.
METHODS
The study population consisted of 80 women with URSA and 90 normal control women, of which 10 women with URSA and 10 normal control women underwent high-throughput sequencing to select loci, and the remaining 70 women with URSA and 80 normal control women underwent flight mass spectrometry experiments to verify gene loci polymorphism. A total of 7 polymorphic loci in interleukin-6 (IL-6), TGF-β1, TNF-α, SMAD1, and TNFRSF4 genes were screened by high-throughput sequencing combined with a review of databases. An SNP flight mass spectrometer (Mass ARRAY detection system) was applied to detect the polymorphisms and their frequencies in 70 women with URSA and 80 normal control women at the 7 gene loci.
RESULTS
Among the 7 loci of IL-6, TGF-β1, TNF-α, SMAD1, and TNFRSF4 genes, 2 loci were found to have significantly different allele and genotype frequency distributions between the 70 URSA and 80 normal controls, one was the IL-6 gene -174G/C locus (rs1800795), the risk of disease was 2.636 and 3.231 times higher in individuals carrying the C allele and CC genotype than in those carrying the G allele and GG genotype, respectively; the other was the TGF-β1 gene -509T/C locus (rs1800469), and the risk of disease was 1.959 and 3.609 times higher in individuals carrying the T allele and TT genotype than in those carrying the C allele and CC genotype, respectively. The remaining 5 genetic loci have no statistically significant.
CONCLUSION
IL-6 gene -174G/C locus (rs1800795) genotype CC and allele C may be the causative factor of URSA, TGF-β1 gene -509T/C locus (rs1800469) genotype TT and allele T may be the causative factor of URSA, and polymorphisms of the 2 loci may be associated with URSA.
背景
转化生长因子-β（TGF-β）信号通路关键基因及其基因多态性与不明原因复发性自然流产（URSA）的关系尚不清楚。
目的
探讨 URSA 妇女 TGF-β信号通路相关基因多态性的关系。
方法
研究对象为 80 例 URSA 妇女和 90 例正常对照妇女，其中 10 例 URSA 妇女和 10 例正常对照妇女进行高通量测序选择位点，其余 70 例 URSA 妇女和 80 例正常对照妇女进行飞行质谱实验验证基因位点多态性。高通量测序结合数据库检索筛选白细胞介素 6（IL-6）、TGF-β1、TNF-α、SMAD1 和 TNFRSF4 基因中的 7 个多态性位点。采用 SNP 飞行质谱仪（Mass ARRAY 检测系统）检测 70 例 URSA 妇女和 80 例正常对照妇女在 7 个基因位点的多态性及其频率。
结果
在 IL-6、TGF-β1、TNF-α、SMAD1 和 TNFRSF4 基因的 7 个位点中，有 2 个位点在 70 例 URSA 妇女和 80 例正常对照妇女中的等位基因和基因型频率分布有显著差异，一个是 IL-6 基因-174G/C 位点（rs1800795），携带 C 等位基因和 CC 基因型的个体患疾病的风险分别是携带 G 等位基因和 GG 基因型个体的 2.636 和 3.231 倍；另一个是 TGF-β1 基因-509T/C 位点（rs1800469），携带 T 等位基因和 TT 基因型的个体患疾病的风险分别是携带 C 等位基因和 CC 基因型个体的 1.959 和 3.609 倍。其余 5 个遗传位点无统计学意义。
结论
IL-6 基因-174G/C 位点（rs1800795）基因型 CC 和等位基因 C 可能是 URSA 的致病因素，TGF-β1 基因-509T/C 位点（rs1800469）基因型 TT 和等位基因 T 可能是 URSA 的致病因素，这 2 个位点的多态性可能与 URSA 有关。
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