Mutation of MDM2 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 MDM2 gene contribute to POI in Chinese Han women. METHODS The coding region of the MDM2 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 MDM2 gene may not represent a risk factor in the pathogenesis of idiopathic POI among Chinese Han women. Although we fail to confirm that MDM2 is a disease-causing gene, our study is the first to investigate the role of MDM2 in POI patients. Further studies with larger sample size from different ethnic populations are warranted.