G2Cdb::Human Disease report

Disease id
D00000275
Name
Recurrent miscarriage
Nervous system disease
no

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00002163 ARNT
aryl hydrocarbon receptor nuclear translocator
Y (16364012) Polymorphism (P) N

References

  • The aryl hydrocarbon receptor nuclear translocator gene polymorphism in patients with recurrent miscarriage.

    Sullivan AE, Nelson L, Frias AE, Porter TF, Branch DW and Silver RM

    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

    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.

    American journal of reproductive immunology (New York, N.Y. : 1989) 2006;55;1;51-3

Literature (1)

Pubmed - other

  • The aryl hydrocarbon receptor nuclear translocator gene polymorphism in patients with recurrent miscarriage.

    Sullivan AE, Nelson L, Frias AE, Porter TF, Branch DW and Silver RM

    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

    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.

    American journal of reproductive immunology (New York, N.Y. : 1989) 2006;55;1;51-3

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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