TBP2 gene may not be associated with primary ovarian insufficiency

Abstract

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.

Keywords:

• Primary ovarian insufficiency
• TATA-binding protein 2 gene
• mutation
• polymorphism

Acknowledgements

We thank all the subjects for their participation in this research, as well as the clinical co-workers from the Department of Reproductive Medicine.

Conflict of interest

The authors report no conflicts of interest with respect to the authorship and/or publication of this article.

Source of funding

This study was supported by a project funded by National Natural Science Foundation of China (Grant No. 81401175).