雌激素受体β基因多态性与不孕症及与不孕相关的子宫内膜异位症有关。
Polymorphism of the estrogen receptor β gene is related to infertility and infertility-associated endometriosis.
作者信息
Zulli Karina, Bianco Bianca, Mafra Fernanda Abani, Teles Juliana Souto, Christofolini Denise Maria, Barbosa Caio Parente
机构信息
Departamento de Ginecologia e Obstetrícia, Santo André, SP, Brazil.
出版信息
Arq Bras Endocrinol Metabol. 2010 Aug;54(6):567-71. doi: 10.1590/s0004-27302010000600010.
OBJECTIVE
To determine the frequency of the estrogen receptor b gene (ERβ) +1730 G/A polymorphism in infertile women with and without endometriosis and controls.
SUBJECTS AND METHODS
Case-control study that included 136 women with endometriosis, 69 women without endometriosis and 209 fertile women as controls. The ERβ gene + 1730 G/A polymorphism was identified by RFLP-PCR (Restriction Fragment Length Polymorphism - Polymerase Chain Reaction).
RESULTS
Genotypes GG, GA and AA of the ERβ gene presented frequencies of 60.3%, 38.2% and 1.5%, respectively, in the women with endometriosis (p < 0.0022). Of the infertile women without endometriosis, 63.8% presented the normal homozygous genotype GG, 30.4% the GA heterozygous genotype, and 5.8% the homozygous mutated genotype AA (p < 0.0275). In the control group, 77.5% presented the normal homozygous genotype GG, 21.1% the heterozygous genotype GA, and 1.4% the homozygous mutated genotype AA.
CONCLUSION
The data suggest that the estrogen receptor β gene (ERβ) +1730 G/A polymorphism can be associated with risk of infertility and endometriosis-associated infertility.
目的
确定雌激素受体β基因（ERβ）+1730 G/A多态性在患有和未患有子宫内膜异位症的不孕女性及对照组中的频率。
研究对象与方法
病例对照研究，纳入136例子宫内膜异位症女性、69例无子宫内膜异位症的女性以及209例可育女性作为对照。通过限制性片段长度多态性聚合酶链反应（RFLP-PCR）鉴定ERβ基因+1730 G/A多态性。
结果
在患有子宫内膜异位症的女性中，ERβ基因的基因型GG、GA和AA的频率分别为60.3%、38.2%和1.5%（p<0.0022）。在无子宫内膜异位症的不孕女性中，63.8%表现为正常纯合基因型GG，30.4%为GA杂合基因型，5.8%为纯合突变基因型AA（p<0.0275）。在对照组中，77.5%表现为正常纯合基因型GG，21.1%为杂合基因型GA，1.4%为纯合突变基因型AA。
结论
数据表明雌激素受体β基因（ERβ）+1730 G/A多态性可能与不孕风险以及子宫内膜异位症相关不孕有关。
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