TBP2 gene may not be associated with primary ovarian insufficiency

Objective: It has previously been reported that TATA-binding protein 2 (TBP2) knockout female mice are sterile. Our objective was to assess the association between the TBP2 gene and primary ovarian insufficiency (POI) in a Chinese population. Methods: A cohort of 60 POI patients matched with 60 fertile controls was recruited by Nanjing Medical University. There were no interventions. The complete TBP2 exon regions were analyzed by direct sequencing in all POI patients and controls. Results: A known single nucleotide polymorphism (rs8019270) was identified in both POI and control groups. There was no difference in the genotype distribution or allelic frequencies between the control group and the POI group. No plausible pathogenic mutations were identified. Conclusion: Our study indicates that the TBP2 gene is not responsible for idiopathic POI in the Chinese Han population.研究目的：已有文献报道，TATA结合蛋白2（TATA-binding protein 2, TBP2）基因敲除的雌性小鼠可出现不育表型。本研究旨在评估中国人群中TBP2基因与原发性卵巢功能不全（primary ovarian insufficiency, POI）的相关性。 研究方法：南京医科大学招募了60例原发性卵巢功能不全患者与60例生育功能正常的匹配对照个体，本研究未施加任何干预措施。对所有受试者的TBP2基因全部外显子区域进行直接测序分析。 研究结果：在原发性卵巢功能不全患者组与对照组中均检测到1个已知的单核苷酸多态性位点rs8019270。两组间的基因型分布及等位基因频率均无统计学差异，未发现明确的致病性突变。 研究结论：本研究结果显示，TBP2基因并非中国汉族人群特发性原发性卵巢功能不全的致病相关基因。