Karvela Maria, Stefanakis Nikolaos, Papadopoulou Sophia, Tsitilou Sonia G, Tsilivakos Vasileios, Lamnissou Klea
Department of Biology, Division of Genetics and Biotechnology, University of Athens, Athens, Greece.
Fertil Steril. 2008 Nov;90(5):2010.e9-12. doi: 10.1016/j.fertnstert.2008.04.071. Epub 2008 Aug 9.
To determine whether the G1733A polymorphism of the androgen receptor gene is associated with an increased risk for recurrent spontaneous abortion (RSA).
Case-control study.
Division of Genetics and Biotechnology, Department of Biology, University of Athens.
PATIENT(S): A total of 131 women with at least three unexplained spontaneous abortions before 20 weeks' gestation, with the same partner, composed the study group.
INTERVENTION(S): Subjects were genotyped by the polymerase chain reaction-restriction fragment length polymorphism method.
MAIN OUTCOME MEASURE(S): G1733A polymorphism genotypes and allele frequencies.
RESULT(S): The observed frequencies of GG, GA, and AA genotypes of the G1733A polymorphism were 0.57, 0.27, and 0.16, respectively, for the patient group and 0.76, 0.15, and 0.09, respectively, for the control group. Allele frequencies were 0.70 and 0.84, respectively, for the patient and control groups for the G allele (wild type) and 0.30 and 0.16, respectively, for the patient and control groups for the A allele (mutant). Statistical analysis of these results indicated significant differences between the two groups.
CONCLUSION(S): These results indicated for the first time that the androgen receptor G1733A polymorphism is strongly associated with increased risk for RSA.
确定雄激素受体基因的G1733A多态性是否与复发性自然流产（RSA）风险增加相关。
病例对照研究。
雅典大学生物系遗传与生物技术分部。
共有131名在妊娠20周前有至少三次原因不明的自然流产且伴侣相同的女性组成研究组。
采用聚合酶链反应-限制性片段长度多态性方法对受试者进行基因分型。
G1733A多态性基因型及等位基因频率。
患者组G1733A多态性的GG、GA和AA基因型观察频率分别为0.57、0.27和0.16，对照组分别为0.76、0.15和0.09。G等位基因（野生型）在患者组和对照组的等位基因频率分别为0.70和0.84，A等位基因（突变型）在患者组和对照组的等位基因频率分别为0.30和0.16。对这些结果的统计分析表明两组之间存在显著差异。
这些结果首次表明雄激素受体G1733A多态性与RSA风险增加密切相关。
