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 non-denaturing 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 -1246 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. (Fertil Steril (R) 2009;91:62-6. (c) 2009 by American Society for Reproductive Medicine.)