Evidence for association of the G1733A polymorphism of the androgen receptor gene with recurrent spontaneous abortions.

OBJECTIVE: To determine whether the G1733A polymorphism of the androgen receptor gene is associated with an increased risk for recurrent spontaneous abortion (RSA).
DESIGN: Case-control study.
SETTING: 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.