The Aryl Hydrocarbon Receptor Nuclear Translocator Gene Polymorphism in Patients With Recurrent Miscarriage


Amy Sullivan, Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, University of Utah Health Science Center, 30 North 1900 East, Room 2B200, Salt Lake City, UT 84132, USA.


Objective  The human aryl hydrocarbon receptor nuclear translocator gene (ARNT) is crucial for embryonic development. Knockout of ARNT is embryonic lethal. We thus hypothesized that some cases of recurrent miscarriage (RM) may be due to a polymorphism in the ARNT gene.

Methods  Polymerase chain reaction was used to compare the gene frequencies of a polymorphism in codon 511 of the ARNT gene in 170 women with idiopathic RM and 105 controls.

Results  Using the Hardy–Weinberg equilibrium calculation, the predicted ARNT genotype frequencies for the N511/N511, N511/D511, and D511/D511 genotypes were 0, 2, and 167 respectively. The observed frequencies were 0, 2, and 168 (NS). The N/511/D511 genotype was detected in 1.2% of cases and 2.8% of controls, and the D511/D511genotype was detected in 98.8% of cases and 97.2% of controls (NS).

Conclusions  In our cohort of patients, the polymorphism in codon 511 of the ARNT gene is not associated with RM.