Investigating the association between inhibin alpha gene promoter polymorphisms and premature ovarian failure.

OBJECTIVE

To determine whether variants in the promoter region of the inhibin alpha gene (INHA) are associated with premature ovarian failure (POF).

DESIGN

Mutational analysis of the INHA gene promoter in women with POF.

SETTING

Academic institution.

PATIENT(S): Patients with POF (n = 194) and controls (n = 162) from New Zealand and Slovenia.

INTERVENTION(S): Peripheral blood samples were screened for known polymorphisms in the INHA promoter (c.-16C-->T, c.-124A-->G, and an imperfect TG repeat at approximately -300 base pairs). Genotyping was performed by restriction fragment length polymorphism, forced restriction fragment length polymorphism, and nondenaturing high-performance liquid chromatography analysis.

MAIN OUTCOME MEASURE(S): Genotypic status of INHA promoter polymorphisms.

RESULT(S): Significant differences in INHA promoter allele frequencies were observed between POF patient populations and controls. Significant reductions in allele frequency were observed for the -16T allele (New Zealand POF) and -124G allele (total POF) and for INHA promoter haplotypes C (New Zealand POF) and D (Slovenian POF).

CONCLUSION(S): We conclude that INHA promoter variants are associated with the development of POF.