A structural or functional cervix problem prevents a woman from carrying a full-term pregnancy, which leads to the disease known as cervical insufficiency. Cervical insufficiency is partially inherited, and in certain situations, variations in genes related to connective tissue metabolism may be involved. The main objective of this investigation was to describe the collagen type I alpha 1 chain (COL1A1) gene rs1800012 polymorphism and the transforming growth factor beta 1 (TGFB1) gene rs1800471 polymorphism in a cohort of patients suffering from cervical insufficiency. Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) assays have been used to analyze the DNAs of 93 patients with cervical insufficiency and 103 healthy controls. The chi-square test was used for statistical analysis. There were significant differences in the genotype frequencies of the COL1A1 gene rs1800012 (G > T) and TGFB1 gene rs1800471 (G > C) polymorphisms between the patient and the control groups (p = 0.049 and p = 0.049, respectively). Also, the C allele of the TGFB1 rs1800471 polymorphism was significantly higher in the patient group than the control group (p = 0.016). Following clinical assessment, the COL1A1 rs1800012 polymorphism was found to be connected to the history of cerclage (p = 0.010). Additionally, the frequency of the TT/GG composite genotype of COL1A1 rs1800012/TGFB1 rs1800471 polymorphisms was significantly lower in the patient group than the control group (p = 0.049). The TT genotype of COL1A1 rs1800012 polymorphism was found to be protective against cervical insufficiency, while the C allele of TGFB1 rs1800471 polymorphism was found to predispose to the disease. It appears that the TT/GG composite genotype of COL1A1 rs1800012/TGFB1 rs1800471 polymorphisms protects against cervical insufficiency.

宫颈结构或功能性问题会阻止女性足月妊娠，从而导致称为宫颈功能不全的疾病。宫颈功能不全是部分遗传的，在某些情况下，可能涉及与结缔组织代谢相关的基因变异。本研究的主要目的是描述一组宫颈功能不全患者队列中胶原蛋白 I 型 α 1 链 （COL1A1） 基因 rs1800012 多态性和转化生长因子 β 1 （TGFB1） 基因 rs1800471 多态性。聚合酶链反应 （PCR） 和限制性片段长度多态性 （RFLP） 测定已用于分析 93 名宫颈功能不全患者和 103 名健康对照者的 DNA。采用卡方检验进行统计分析。COL1A1 基因 rs1800012 （G > T） 和 TGFB1 基因 rs1800471 （G > C） 多态性基因型频率在患者和对照组之间存在显著差异 （分别为 p = 0.049 和 p = 0.049）。此外，患者组 TGFB1 rs1800471 多态性的 C 等位基因显著高于对照组 （p = 0.016）。经过临床评估，发现 COL1A1 rs1800012 多态性与环扎术史有关 （p = 0.010）。此外，患者组 COL1A1 rs1800012/TGFB1 rs1800471 多态性的 TT/GG 复合基因型频率显著低于对照组 （p = 0.049）。 发现 COL1A1 rs1800012 多态性的 TT 基因型对宫颈功能不全有保护作用，而发现 TGFB1 rs1800471 多态性的 C 等位基因易患该疾病。COL1A1 rs1800012/TGFB1 rs1800471 多态性的 TT/GG 复合基因型似乎可以防止宫颈功能不全。