Bagheri Morteza, Rad Isa Abdi, Jazani Nima Hosseini, Nanbakhsh Fariba
Food and Beverages Safety Research Center, Urmia University of Medical Sciences, Urmia, Iran ; Department of Genetics, Urmia University of Medical Sciences, Urmia, Iran ; Centre of Cellular and Molecular Research, Urmia University of Medical Sciences, Urmia, Iran.
Maedica (Bucur). 2012 Dec;7(4):303-8.
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.
The RFLP-PCR method was performed on peripheral blood lymphocyte for a total of 46 females with PCOS and 46 controls.
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).
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.
在本研究中,我们评估了维生素D受体(VDR)FokI(rs10735810)外显子2(C/T)和BsmI(rs1544410)内含子8(A/G)基因变异与伊朗阿塞拜疆土耳其族女性多囊卵巢综合征(PCOS)遗传易感性的关系。
采用RFLP-PCR方法对46例PCOS女性患者和46例对照者的外周血淋巴细胞进行检测。
VDR FokI(rs10735810)CC、CT、TT、C和T基因型/等位基因频率在病例组中分别为22(47.83)、20(43.48)、4(8.696)、64(69.57)和28(30.43),在对照组中分别为29(63.04)、15(32.61)、2(4.348)、73(79.35)和19(20.65)。病例组中VDR FokI C和T等位基因频率分别为0.7和0.3,对照组中分别为0.79和0.21。VDR BsmI(rs1544410)内含子8(A/G)AA、AG、GG、A和G基因型/等位基因频率在病例组中分别为15(32.6)、27(58.7)、4(8.7)、57(62)和35(38),在对照组中分别为20(43.5)、24(52.2)、2(4.35)、64(69.6)和28(30.4)。病例组中VDR BsmI(rs1544410)内含子8 A和G等位基因频率分别为0.7和0.3,对照组中分别为0.62和0.38。统计分析表明,病例组和对照组之间VDR FokI(rs10735810)外显子2(C/T)和VDR BsmI(rs1544410)内含子8(A>G)的基因型/等位基因频率差异无统计学意义(p>0.05)。
可以得出结论,FokI(rs10735810)外显子2(C/T)和VDR BsmI(rs1544410)内含子8(A>G)与研究组中的PCOS易感性无关。本研究是针对伊朗阿塞拜疆土耳其族女性的首例此类研究。