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).


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


METHODS
Academic institution.


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


METHODS
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.


METHODS
Genotypic status of INHA promoter polymorphisms.


RESULTS
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).


CONCLUSIONS
We conclude that INHA promoter variants are associated with the development of POF.
Woad
Kathryn J
KJ
Discipline of Oncology, University of Auckland, Auckland, New Zealand. k.woad@auckland.ac.nz
Pearson
Shona M
SM
Harris
Sarah E
SE
Gersak
Ksenija
K
Shelling
Andrew N
AN
D004247:DNA / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D017931:DNA Primers; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D007265:Inhibins / Q000235:genetics*; D007621:Karyotyping; D009520:New Zealand; D012150:Polymorphism, Restriction Fragment Length; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D011401:Promoter Regions, Genetic; D012016:Reference Values; D017524:Slovenia
D017931:DNA Primers; C094377:inhibin-alpha subunit; D007265:Inhibins; D004247:DNA