Association study of AMH and AMHRII polymorphisms with unexplained infertility.

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.