Association of the Rs2070075 GALT gene variant with Iranian primary ovarian insufficiency patients

Primary ovarian insufficiency (POI) is ovarian follicle deficiency causing menstruation interruption before 40. GALT gene's defect can lead to POI besides galactosemia. Due to the association of GALT's rs75391579 variant with POI in galactosemia and its presence in the Iranian general population, we aimed to determine its association with POI in Iranian patients.

The blood DNA of 100 idiopathic POI patients underwent Polymerase Chain Reaction (PCR) and Sanger sequencing. Chi-square test was used as statistical analysis (p-value < 0.05). Frequencies were compared to Iranome database as the Iranian general population, and with Minor Allele Frequency (MAF) and the Highest MAF.

The exonic rs2070075 C > T, and the intronic rs2277202 and rs41274867 G > A variants were detected. The genotype and allele frequencies of the rs2070075 were significantly different from the Highest MAF (p = 0.037, p = 0.011). The variants rs2277202 and rs41274867 showed significant differences compared to MAF (p-value < 0.001), but not when compared to Iranome and the highest MAF. The rs75391579 was not found in the studied patients.

The homozygous TT genotype of rs2070075 in one patient, whose mother with the same genotype experienced early menopause at 39, seems correlated with Iranian POI patients. As the rs2070075 has not been reported in POI so far, further investigation is recommended.