Research Foundation, Hospital Clínico Universitario, Valencia, Spain.
Fertil Steril. 2010 Apr;93(6):1809-15. doi: 10.1016/j.fertnstert.2008.12.086. Epub 2009 Feb 6.
To investigate whether polymorphisms in estrogen receptor alpha (ERalpha) or beta (ERbeta) genes are associated with a risk of miscarriage.
A retrospectively analyzed, prospectively obtained database of cases and controls.
University hospital menopause unit.
PATIENT(S): 177 women with at least one spontaneous abortion and 442 controls with at least one live birth and no history of miscarriage.
INTERVENTION(S): None.
MAIN OUTCOME MEASURE(S): Genotype frequencies and odd ratios for abortion risk in cases and controls for four single nucleotide polymorphisms (SNPs) located in intron 1 (C>T and A>G), intron 4 (A>T), and exon 8 (T>C) for the ERalpha gene, and two SNPs located in intron 2 (C>T) and intron 8 (G>A) for the ERbeta gene.
RESULT(S): A statistically significant association was found between spontaneous abortion and SNPs rs2234693 (C>T, defined by restriction enzyme PvuII) and rs9340799 (A>G, defined by restriction enzyme XbaI) in intron 1 of the ERalpha gene. The age-adjusted odds ratio for abortion risk was 1.29 for the TA haplotype (defined by PvuII-XbaI) with respect to the CG haplotype in women with at least one abortion, which increased to 1.9 in women with two or more abortions.
CONCLUSION(S): The TA haplotype defined by PvuII and XbaI was associated with an increased risk of reproductive loss. No association was found for the ERbeta gene.
研究雌激素受体 α（ERα）或 β（ERβ）基因多态性是否与流产风险相关。
回顾性分析，前瞻性获得病例和对照的数据库。
大学医院更年期单位。
177 名至少有一次自然流产的妇女和 442 名至少有一次活产且无流产史的对照。
无。
位于 ERα 基因内含子 1（C>T 和 A>G）、内含子 4（A>T）和外显子 8（T>C）的四个单核苷酸多态性（SNP）和 ERβ 基因内含子 2（C>T）和内含子 8（G>A）的两个 SNP 在病例和对照中的基因型频率和流产风险的比值比。
发现自然流产与 ERα 基因内含子 1 中的 SNP rs2234693（C>T，由限制酶 PvuII 定义）和 rs9340799（A>G，由限制酶 XbaI 定义）之间存在统计学显著关联。对于至少有一次流产的女性，TA 单倍型（由 PvuII-XbaI 定义）与 CG 单倍型相比，流产风险的调整后比值比为 1.29，而对于有两次或更多流产的女性，该比值比增加至 1.9。
由 PvuII 和 XbaI 定义的 TA 单倍型与生殖损失风险增加相关。未发现 ERβ 基因的相关性。
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