Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Hyderabad, India.
Department of Biochemistry, Osmania University, Hyderabad, India.
Am J Reprod Immunol. 2021 Sep;86(3):e13431. doi: 10.1111/aji.13431. Epub 2021 May 10.
Fork Head Box Protein 3 (FOXP3) is an X-linked gene, codes for a master transcription regulatory protein that controls the development and function of immunosuppressive T regulatory (Treg) cells. They are crucial mediators of maternal foetal tolerance and successful pregnancy outcome. The aim of the study is to evaluate the association of FOXP3 rs3761548 functional polymorphism and to assess the serum concentrations of full-length FOXP3 protein in Unexplained Recurrent Spontaneous Abortions (URSA) patients of Southern India.
The study included blood samples from 150 URSA patients and 150 healthy, pregnant parous women. Polymerase Chain Reaction-Restriction Fragment Length Polymorphism was done for rs3761548 FOXP3 genotyping. Serum concentrations of full-length FOXP3 protein were estimated by enzyme-linked immunosorbent assay.
The frequencies of mutant A allele, CA and AA genotypes of rs3761548 functional polymorphism were significantly elevated in patients compared to healthy, pregnant parous women and exhibited a two, three and twofold increased risk respectively towards URSA. Serum concentrations of full-length FOXP3 protein were high in controls compared to patients (10.14 ± .30 vs. 8.84 ± 1.73 ng/ml; p < .05).
Our results advocate an association of FOXP3 rs3761548 polymorphism and reduced expression of full-length FOXP3 protein with URSA.
叉头框蛋白 3（FOXP3）是一种 X 连锁基因，编码一种主转录调控蛋白，控制免疫抑制性 T 调节（Treg）细胞的发育和功能。它们是母体胎儿耐受和成功妊娠结局的关键介质。本研究旨在评估 FOXP3 rs3761548 功能多态性的相关性，并评估南方印度不明原因复发性自然流产（URSA）患者的全长 FOXP3 蛋白的血清浓度。
该研究包括来自 150 例 URSA 患者和 150 例健康、已孕多产妇女的血液样本。采用聚合酶链反应-限制性片段长度多态性方法进行 rs3761548 FOXP3 基因分型。采用酶联免疫吸附试验测定全长 FOXP3 蛋白的血清浓度。
与健康、已孕多产妇女相比，rs3761548 功能多态性的突变 A 等位基因、CA 和 AA 基因型在患者中的频率显著升高，URSA 的风险分别增加了两倍、三倍和两倍。全长 FOXP3 蛋白的血清浓度在对照组中高于患者（10.14 ±.30 与 8.84 ± 1.73 ng/ml；p <.05）。
我们的结果表明 FOXP3 rs3761548 多态性与全长 FOXP3 蛋白表达降低与 URSA 相关。
