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. Aclearer understanding of their function in ovarian physiology may help clinicians to find a role for antimullerian hormone measurement in the field of reproductive medicine. (Fertil Steril (R) 2010;94:1244-8. (C) 2010 by American Society for Reproductive Medicine.)