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维生素D受体FokI(rs10735810)(C/T)和BsmI(rs1544410)(A/G)基因变异与多囊卵巢综合征风险缺乏相关性:一项针对伊朗阿塞拜疆土耳其族女性的病例对照研究。

Lack of Association of Vitamin D Receptor FokI (rs10735810) (C/T) and BsmI (rs1544410) (A/G) Genetic Variations with Polycystic Ovary Syndrome Risk: a Case-control Study from Iranian Azeri Turkish Women.

作者信息

Bagheri Morteza, Rad Isa Abdi, Jazani Nima Hosseini, Nanbakhsh Fariba

机构信息

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.

出版信息

Maedica (Bucur). 2012 Dec;7(4):303-8.

Abstract

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.

摘要

引言

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。

材料与方法

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。

结果

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)。

结论

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。

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