Association study of AMH and AMHRII polymorphisms with unexplained infertility

Abstract

Objective: To investigate the association of AMH and AMHRII polymorphisms with reproductive abilities in a sample of women with idiopathic infertility.

Design: Case-control study.

Setting: University Department of Obstetrics and Gynecology, and University Unit of Clinical Genetics.

Patient(s): 76 women with idiopathic sterility and 100 fertile women as controls.

Intervention(s): Genotyping was performed by high-resolution melt analysis.

Main outcome measure(s): Genotype distribution and allele frequency of AMH and AMHRII polymorphisms. Reconstruction of haplotype alleles to evaluate the linkage disequilibrium between single nucleotide polymorphisms.

Result(s): Allele frequencies of -482 A>G, IVS 5-6 C>T, IVS 10+77 A>G, 146T>G polymorphisms are statistically significantly different in infertile patients compared with controls.

Conclusion(s): Genetic variants of AMH and AMHRII genes seem to be associated with infertility, suggesting a role in the pathophysiology of normo-estrogenic and normo-ovulatory infertility. A clearer understanding of their function in ovarian physiology may help clinicians to find a role for antimüllerian hormone measurement in the field of reproductive medicine.