Objective: To evaluate the relationship between Estrogen receptor α gene (ESR1) polymorphisms and idiopathic premature ovarian failure (POF) in Chinese women.
Methods: 155 idiopathic POF and 150 healthy controls were recruited in this study. All subjects were analyzed at the PvuII and XbaI loci of the ESR1 gene using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP).
Results: The frequency of the P allele of the PvuII polymorphisms was 38.1% in POF women, which was significantly higher than controls (28.0%) (p = 0.008). And for the XbaI polymorphisms, the X allele was 21.0% in POF patients, compared to 13.3% in control women (p = 0.013). Carriers of the PP genotype had higher increased risk of POF than those of the pp genotypes (p = 0.011), whereas in three genotypes of the XbaI polymorphisms, no difference was found in the prediction value of POF. In addiction, the P-X haplotype was associated with a significantly increased risk for idiopathic POF.
Conclusion: These data suggest that the PvuII and XbaI polymorphisms of ESR1 gene are associated with POF, which may be a potential genetic risk factor of idiopathic POF. More researches are needed to determine whether the findings are generalizable to other populations.