Endocrine Abstracts

Background: Polycystic ovary syndrome (PCOS) is a prevalent and multifactorial endocrine disorder, characterized by reproductive and metabolic alterations. However, the mechanisms that contribute to the development of metabolic abnormalities are not completely understood. Interestingly, women with PCOS show changes in folate and homocysteine levels suggesting an altered folate metabolism, which could be associated to changes in the methylation patterns of metabolic genes. Methylentethahydrofolate reductase (MTHFR) is one of the key enzymes in folate metabolism and it has been reported that polymorphisms in MTHFR gene could reduce the enzymatic activity.

Objective: The aim of this study is to assess the prevalence of SNP C677T (rs1801133) and A1298C (rs1801131) in MTHFR gene and their association with metabolic markers in PCOS women in comparison to control women.

Methodology: A total of 58 with PCOS without hormonal contraception and 77 control women with a BMI between 18 and 35 kg/m² (18-34 y.o.) were included in this study. Anthropometric measurements were carried out using standardized techniques and blood samples were obtained. To evaluate metabolic profiles, vitamin B12, serum and red blood cells folate (RBC) were measured, in addition to lipid and biochemical profiles, a food frequency questionnaire was performed. DNA analyses were performed in whole blood. Student’s t-test or Mann Whitney test were applied for independent samples for compare both groups. To evaluate correlation, Pearson or Spearman was applied. For all analyses, a value of P< 0.05 was considered significant.

Results: • PCOS women exhibited a significant increment in BMI in contrast to control group.• PCOS women showed an increased Ferriman score, total testosterone, and free androgen index, accompanied by insulin-resistance.• We found no differences in vitamin B12, serum folate and red blood cell folate, however, PCOS and control women do not achieve the daily dietary recommendations for choline and betaine.• The distribution of C677T genotype frequency in our population was F(CC): 0.28, F(TC): 0.52 and F(TT): 0.2.• The distribution of A1298C genotype frequency in our population was F(AA): 0.62, F(AC): 0.34 and F(CC): 0.03.• The analysis of C677T and A128C shows that both polymorphisms are in Hardy-Weinberg equilibrium.

Conclusions: This is the first study that have reported the genotype frequency in Chilean women with PCOS. Further studies are necessary to determine the role of this genetic variants in this condition and circulating levels of choline and betaine should be measured, to validate this hypothesis due to their impact on metabolic dysfunctions.