Alleles and haplotypes of the estrogen receptor alpha gene are associated with an increased risk of spontaneous abortion

作者：Pineda Begona; Hermenegildo Carlos; Tarin Juan J; Laporta Paz; Cano Antonio; Angel Garcia Perez Miguel

来源：Fertility and Sterility, 2010, 93(6): 1809-1815.

DOI：10.1016/j.fertnstert.2008.12.086

• Abortion risk
• estrogen receptor genes
• genetic polymorphism

Objective: To investigate whether polymorphisms in estrogen receptor alpha (ER alpha) or beta (ER beta) genes are associated with a risk of miscarriage.
Design: A retrospectively analyzed, prospectively obtained database of cases and controls.
Setting: 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 ERa gene, and two SNPs located in intron 2 (C>T) and intron 8 (G>A) for the ER beta 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 ER alpha gene. The age-adjusted odds ratio for abortion risk was 1.29 for the TA haplotype (defined by Pvull 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 Pvull and XbaI was associated with an increased risk of reproductive loss. No association was found for the ER beta gene. (Fertil Steril(R) 2010;93:1809-15.

• 出版日期2010-4