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.


METHODS
Case-control study.


METHODS
University Department of Obstetrics and Gynecology, and University Unit of Clinical Genetics.


METHODS
76 women with idiopathic sterility and 100 fertile women as controls.


METHODS
Genotyping was performed by high-resolution melt analysis.


METHODS
Genotype distribution and allele frequency of AMH and AMHRII polymorphisms. Reconstruction of haplotype alleles to evaluate the linkage disequilibrium between single nucleotide polymorphisms.


RESULTS
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.


CONCLUSIONS
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.
Rigon
Chiara
C
Department of Pediatrics, Clinical Genetics, University of Padova, Padova, Italy.
Andrisani
Alessandra
A
Department of Obstetrics and Gynecology, University of Padova, Padova, Italy.
Forzan
Monica
M
Department of Pediatrics, Clinical Genetics, University of Padova, Padova, Italy.
D'Antona
Donato
D
Department of Obstetrics and Gynecology, University of Padova, Padova, Italy.
Bruson
Alice
A
Department of Pediatrics, Clinical Genetics, University of Padova, Padova, Italy.
Cosmi
Erich
E
Department of Obstetrics and Gynecology, University of Padova, Padova, Italy.
Ambrosini
Guido
G
Department of Obstetrics and Gynecology, University of Padova, Padova, Italy.
Tiboni
Gian Mario
GM
Department of Medicine and Science of Aging, University of Chieti and Pescara, Chieti and Pescara, Italy.
Clementi
Maurizio
M
Department of Pediatrics, Clinical Genetics, University of Padova, Padova, Italy. Electronic address: maurizio.clementi@unipd.it.
D000328:Adult; D054304:Anti-Mullerian Hormone / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007247:Infertility, Female / Q000235:genetics*; D015810:Linkage Disequilibrium; D020641:Polymorphism, Single Nucleotide / Q000502:physiology; D018000:Receptors, Peptide / Q000235:genetics*; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*
D018000:Receptors, Peptide; D018125:Receptors, Transforming Growth Factor beta; C084621:anti-Mullerian hormone receptor; D054304:Anti-Mullerian Hormone