Abstract
BackgroundThe 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.MethodsSeven 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.ResultsNo statistically significant difference was found in an association analysis of the seven SNPs in the allele frequencies, genotype frequencies, or haplotype distributions.ConclusionsIn 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.
Highlights
The aim of our study was to investigate the possible relationship between polymorphisms in PTEN and (primary ovarian insufficiency) (POI) in Chinese women
How can primordial follicles maintain such a long dormant state during a female’s entire reproductive life? Previous studies have found that some signal molecules, such as PTEN, are relevant to this process [5]
Down-regulation of its expression or dysfunction of the PTEN is closely related to the
Summary
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. Results: No statistically significant difference was found in an association analysis of the seven SNPs in the allele frequencies, genotype frequencies, or haplotype distributions. POI (primary ovarian insufficiency) is characterised by reduced ovarian function in women under 40 years of age. It results from a decrease in the number of ovarian follicles, follicle exhaustion or follicle insensitivity to gonadotropins [1]. Partial primordial follicles in dormancy are activated and develop to the antral follicle stage. At the onset of puberty, antral follicles either develop into mature follicles
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