FOK1 and APA1 Gene Polymorphism Among Polycystic Ovary Syndrome: A Prospective Cohort Study

Vitamin D receptor (VDR) regulates insulin sensitivity, lipid metabolism and hormone balance in women. There are contrasting opinions on influence of VDR gene polymorphism for PCOS predisposition. Therefore, the present study investigated associations between VDR polymorphism (FOK1 and APA1) and PCOS phenotype as well as related biochemical and clinical parameters.

A total 240 female participants were enrolled in the study which consists of 120 women with PCOS and 120 control in group. We collected 5 ml of blood from each participant from which 3 ml was used for biochemical analysis and 2 ml was used to investigate genetic polymorphism in VDR genes via PCR-RFLP. Chi-square test, one-way ANOVA and Kruskal-Wallis test were used for the data analysis.

We found that polymorphism in FOK1 and APA1 genotypes were significantly associated with the body mass index (BMI), high-density lipoprotein (HDL), prolactin level and fasting blood sample (FBS), total cholesterol, triglyceride, HDL level respectively among PCOS patients (p-value < 0.05). Similarly, APA1 polymorphism was also associated with the hip-waist ratio, FBS, HDL, LDL and LDL/HDL ratio, estradiol and prolactin level in control group (p < 0.05). However, we didn't find any difference in the genotypic distribution of the FOK1 and APA1 gene polymorphs among the PCOS and controls group (p > 0.05).

The polymorphism in FOK1 and APA1 genes can indirectly alter the biochemical parameter and hormonal balance in body which might contribute to the development of PCOS. Dyslipidemia and hormonal imbalance must be ruled out in relation to VDR gene polymorphism in PCOS.