Introduction: In this study we evaluate the involvement of Vitamin D Receptor (VDR) FokI (rs10735810) Exon 2 (C/T) and BsmI (rs1544410) Intron 8 (A/G) gene variations in genetic susceptibility to polycystic ovary syndrome (PCOS) in Iranian Azeri Turkish women.
Materials and methods: The RFLP-PCR method was performed on peripheral blood lymphocyte for a total of 46 females with PCOS and 46 controls.
Outcomes: VDR FokI (rs10735810) CC,CT,TT,C and T genotypic/allelic frequencies were 22(47.83), 20(43.48), 4(8.696), 64(69.57) and 28(30.43) in cases and 29(63.04), 15(32.61), 2(4.348), 73(79.35) and 19(20.65) in controls, respectively. The frequencies of VDR FokI C and T alleles were 0.7 and 0.3 in cases, and 0.79 and 0.21 in controls, respectively. VDR BsmI (rs1544410) Intron 8 (A/G) AA,AG,GG,A and G genotypic/allelic frequencies were 15(32.6), 27(58.7), 4(8.7), 57(62), and 35(38) in cases and 20(43.5), 24(52.2), 2(4.35), 64(69.6), and 28(30.4) in controls, respectively. The frequencies of VDR BsmI (rs1544410) Intron 8 A and G alleles were 0.7 and 0.3 in cases, and 0.62 and 0.38 in controls, respectively. Statistical analysis showed that the differences in genotypic/allelic frequencies between the cases and controls were not statistically significant regarding of VDR FokI(rs10735810) Exon 2 (C/T) and VDR BsmI (rs1544410) Intron 8 (A>G) (p >0.05).
Conclusions: It can be concluded that FokI (rs10735810) Exon 2 (C/T) and VDR BsmI (rs1544410) Intron 8 (A>G) were not associated with PCOS susceptibility in studied group. Present investigation is the first study in its own kind in Iranian Azeri Turkish women.
Keywords: BsmI; FokI; Polycystic Ovary Syndrome; Vitamin D receptor.