No association between polymorphisms in PTEN and primary ovarian insufficiency in a Han Chinese population

BACKGROUND: The aim of our study was to investigate the possible relationship between polymorphisms in PTEN (the phosphatase and tensin homolog located on chromosome ten in humans) and POI (primary ovarian insufficiency) in Chinese women. METHODS: Seven tag SNPs (single nucleotide polymorphisms) - rs1234219, rs1903858, rs2299939, rs35352882, rs17107001, rs2299941 and rs12572106 - were chosen from the CHB (Han Chinese people in Beijing, China) HapMap database. MALDI-TOF-MS (matrix-assisted laser desorption/ionisation time-of-flight mass spectrometry) was used to detect the genotype distribution of the seven SNPs among 148 POI patients and 230 controls. RESULTS: No statistically significant difference was found in an association analysis of the seven SNPs in the allele frequencies, genotype frequencies, or haplotype distributions. CONCLUSIONS: In summary, this study explored the relationship between polymorphisms in PTEN and POI in a Han Chinese population and suggests that polymorphisms in PTEN may not be associated with a risk of POI.