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. Copyright (c) 2010 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.
Association study of AMH and AMHRII polymorphisms with unexplained infertility.
TIBONI, Gian Mario;
2010-01-01
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. Copyright (c) 2010 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
