School of Medicine, Anhui University of Science and Technology, Huainan, Anhui 232001, PR China.
Mol Med Rep. 2011 Nov-Dec;4(6):1239-42. doi: 10.3892/mmr.2011.551. Epub 2011 Aug 12.
To investigate the relationship between polymorphisms in the estrogen receptor-α (ERα) gene and unexplained female infertility, restriction fragment length polymorphism (RFLP) analysis of ERα was employed in 150 females with idiopathic infertility (study group) and 150 healthy, age-matched females of proven fertility (control group). The results showed that the ERα allele frequencies differed significantly between the study and control groups (P=0.001). The allele identified by PvuII (P) restriction was detected more frequently in the study group (49.0% of individuals) compared to the control group (31.0%; P=0.001), while the allele identified by XbaI (X) restriction was detected less frequently in the study group (19.7%) compared to the control group (35.7%, P=0.001). A similar phenomenon was observed for the distribution of the TA alleles. The TA13 allele was more common in the study group (24.7 vs. 6.7% in controls; P=0.001), while the TA15 allele was less common in the study group (15.3 vs. 27.3% in controls; P=0.034). To conclude, polymorphisms in the ERα gene are associated with idiopathic female infertility. In particular, the P and TA13 alleles may represent significant risk factors, while the X and TA15 alleles may be protective factors.
为了研究雌激素受体-α（ERα）基因多态性与不明原因女性不孕之间的关系，采用限制片段长度多态性（RFLP）分析方法对 150 例特发性不孕女性（研究组）和 150 例年龄匹配的健康有生育能力的女性（对照组）的 ERα 进行了分析。结果显示，研究组和对照组之间 ERα等位基因频率差异有统计学意义（P=0.001）。研究组中 PvuII（P）限制酶识别的等位基因（49.0%的个体）比对照组（31.0%；P=0.001）更为常见，而 XbaI（X）限制酶识别的等位基因（19.7%的个体）比对照组（35.7%；P=0.001）更为少见。TA 等位基因的分布也存在类似的现象。TA13 等位基因在研究组中更为常见（24.7%比对照组的 6.7%；P=0.001），而 TA15 等位基因在研究组中则较为少见（15.3%比对照组的 27.3%；P=0.034）。综上所述，ERα 基因多态性与特发性女性不孕有关。特别是 P 和 TA13 等位基因可能是显著的风险因素，而 X 和 TA15 等位基因可能是保护因素。
