rs98422、rs1011731、rs8017304 和 rs2588809 基因多态性与垂体腺瘤的关联。
rs98422, rs1011731, rs8017304, and rs2588809 Gene Polymorphisms and Associations With Pituitary Adenoma.
机构信息
Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania.
Neuroscience Institute, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania
出版信息
In Vivo. 2021 Mar-Apr;35(2):815-826. doi: 10.21873/invivo.12322.
BACKGROUND
Pituitary adenoma (PA) is a benign tumor of parenchymal cells in the adenohypophysis, and it's development is strongly associated with genetic factors.This study aim was to find whether TBX15 rs98422, DNM3 rs1011731, RAD51B rs8017304, and rs2588809 single nucleotide polymorphisms can be associated with pituitary adenoma. While the TBX15 gene belongs to the T-box family of genes and is a transcription factor involved in many developmental processes, the DNM3 encodes a protein that is a member of the dynamin family with mechanochemical properties involved in actin-membrane processes, predominantly in membrane budding, and the RAD51B gene plays a significant role in homologous recombination in DNA repair for genome stability.
MATERIALS AND METHODS
The study enrolled 113 patients with pituitary adenoma and 283 healthy control subjects. DNA samples were extracted and purified from peripheral blood leukocytes. Genotyping was carried out using real-time polymerase chain reaction. The results were assessed using binomial logistic regression.
RESULTS
Our study revealed that RAD51B rs2588809 TT genotype could be associated with PA development in the co-dominant (OR=6.833; 95% CI=2.557-18.262; p<0.001) and recessive (OR=7.066; 95% CI=2.667-18.722; p<0.001) models. The same results were observed in females but not in males and PA without recurrence, while in PA with recurrence, no statistically significant results were obtained.
CONCLUSION
RAD51B rs2588809 TT genotype may increase the odds of PA development in women; it may also be associated with non-recurrent PA development.
背景
垂体腺瘤（PA）是腺垂体实质细胞的良性肿瘤，其发生与遗传因素密切相关。本研究旨在探讨 TBX15 rs98422、DNM3 rs1011731、RAD51B rs8017304 和 rs2588809 单核苷酸多态性是否与垂体腺瘤相关。TBX15 基因属于 T 盒基因家族，是一种参与多种发育过程的转录因子，DNM3 编码的蛋白是一种具有机械化学特性的动力蛋白家族成员，主要参与膜突起、膜融合过程，RAD51B 基因在同源重组中发挥重要作用，参与 DNA 修复以维持基因组稳定性。
材料和方法
本研究纳入了 113 例垂体腺瘤患者和 283 例健康对照者。从外周血白细胞中提取和纯化 DNA 样本。采用实时聚合酶链反应进行基因分型。采用二项逻辑回归评估结果。
结果
我们的研究表明，RAD51B rs2588809 TT 基因型在共显性（OR=6.833；95%CI=2.557-18.262；p<0.001）和隐性（OR=7.066；95%CI=2.667-18.722；p<0.001）模型中与 PA 发病相关。同样的结果在女性中观察到，但在男性和无复发的 PA 中未观察到，而在有复发的 PA 中未获得统计学意义的结果。
结论
RAD51B rs2588809 TT 基因型可能增加女性发生 PA 的风险，也可能与非复发性 PA 发病相关。
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