Mutation of gene in Chinese Han women with idiopathic premature ovarian insufficiency.

Objective: Recent animal studies have demonstrated that the deletion of mouse double minute 2 (Mdm2) in mice leads to premature ovarian insufficiency (POI). The aim of the present study was to investigate whether mutations in the gene contribute to POI in Chinese Han women.

Methods: The coding region of the gene was examined in 54 Chinese Han women with idiopathic POI and 54 Han healthy controls. Two known single nucleotide polymorphisms (SNPs), rs937283 in 5'-UTR and rs2870820 in intron 1, were compared between both POI and control groups.

Results: There were no significant differences in the genotype distributions or allelic frequencies between the POI and control groups. No plausible causative mutations were identified.

Conclusion: Our findings suggest that mutations in the coding region of the gene may not represent a risk factor in the pathogenesis of idiopathic POI among Chinese Han women. Although we fail to confirm that is a disease-causing gene, our study is the first to investigate the role of in POI patients. Further studies with larger sample size from different ethnic populations are warranted.