Related Experiment Video
Updated: Jun 22, 2026

Using Mouse Oocytes to Assess Human Gene Function During Meiosis I
Published on: April 10, 2018
Association study of AMH and AMHRII polymorphisms with unexplained infertility
Chiara Rigon1, Alessandra Andrisani2, Monica Forzan1
1Department of Pediatrics, Clinical Genetics, University of Padova, Padova, Italy.
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.
Related Concept Videos
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Nondisjunction
Infertility in Males
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
Infertility in Females
Endometriosis, a condition characterized by abnormal growth of endometrial...
