The aryl hydrocarbon receptor nuclear translocator gene polymorphism in patients with recurrent miscarriage.
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.
Sullivan
Amy E
AE
Division of Reproductive Sciences, Department of Obstetrics and Gynecology, University of Utah Health Science Center, RM, SOM, UT 84132, USA. amy.sullivan@hsc.utah.edu
Nelson
Leesa
L
Frias
Antonio E
AE
Porter
T Flint
TF
Branch
D Wane
DW
Silver
Robert M
RM
D000026:Abortion, Habitual / Q000235:genetics*; D000328:Adult; D000483:Alleles; D019943:Amino Acid Substitution; D051784:Aryl Hydrocarbon Receptor Nuclear Translocator / Q000235:genetics*; D003062:Codon; D015331:Cohort Studies; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D011110:Polymorphism, Genetic
D003062:Codon; D051784:Aryl Hydrocarbon Receptor Nuclear Translocator