Association study of AMH and AMHRII polymorphisms with unexplained infertility.

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.

journal_name

Fertil Steril

journal_title

Fertility and sterility

authors

Rigon C,Andrisani A,Forzan M,D'Antona D,Bruson A,Cosmi E,Ambrosini G,Tiboni GM,Clementi M

doi

10.1016/j.fertnstert.2009.05.025

subject

Has Abstract

pub_date

2010-09-01 00:00:00

pages

1244-1248

issue

4

eissn

0015-0282

issn

1556-5653

pii

S0015-0282(09)01101-7

journal_volume

94

pub_type

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