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.