The association of the FOXE1 polyalanine tract length with the occurrence of premature ovarian insufficiency in the Greek population: A pilot, case-control study.

Objective: To investigate the relationship between the FOXE1 gene polyalanine tract length and premature ovarian insufficiency (POI) in the Greek population.

Materials and methods: Peripheral blood was collected from 28 women with POI and 29 healthy controls. DNA was extracted and the gene was amplified using the polymerase chain reaction (PCR) technique. The PCR product was sequenced and the number of alanine tracts and the genotypes was recorded. Statistical analysis examined differences in allele and genotype frequencies between the groups.

Results: The patients' group mean age was 31.68 years with a mean age of POI diagnosis of 25.18 years. Five alleles (8, 12, 14, 16, 17 comprising alanine residues) and seven genotypes (14/14, 14/16, 16/16, 14/17, 16/17, 8/16, 12/14) were identified. The 8-alanine allele was exclusive to patients, while the 12-alanine allele appeared only in controls. The most common genotype in the study group was 14/16 (64.29%), whereas the most common genotype in the control group was 14/14 (41.4%). No differences of statistical significance were observed in the prevalences of the allele with 14 (p=0.590) and 16 (p=0.594) residues or the genotype prevalences between the two groups (p=0.066).

Conclusion: Our preliminary findings suggest no correlation between FOXE1 polyalanine tract length and POI, but given the study's small sample size, they should be interpreted with caution. Further research is deemed necessary.