Mutational screening of FOXO3A and FOXO1A in women with premature ovarian failure.
FOXO3A and FOXO1A are excellent candidate genes for the development of premature ovarian failure and have not been analyzed previously in POF patients. Potentially causal mutations in FOXO3A (2/90; 2.2%) and FOXO1A (1/90; 1.1%) were identified in POF patients; however, the pathological role of these mutations will be determined only by screening increased numbers of patients and controls, or by functional studies.
Watkins
Wendy J
WJ
Department of Obstetrics and Gynaecology, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.
Umbers
Alexandra J
AJ
Woad
Kathryn J
KJ
Harris
Sarah E
SE
Winship
Ingrid M
IM
Gersak
Ksenija
K
Shelling
Andrew N
AN
D004252:DNA Mutational Analysis; D005260:Female; D000071161:Forkhead Box Protein O1; D000071316:Forkhead Box Protein O3; D051858:Forkhead Transcription Factors / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D009154:Mutation; D009520:New Zealand / Q000453:epidemiology; D020641:Polymorphism, Single Nucleotide; D016649:Primary Ovarian Insufficiency / Q000453:epidemiology* / Q000235:genetics*; D018570:Risk Assessment / Q000379:methods*; D012307:Risk Factors; D017524:Slovenia / Q000453:epidemiology
C085126:FOXO1 protein, human; C499517:FOXO3 protein, human; D000071161:Forkhead Box Protein O1; D000071316:Forkhead Box Protein O3; D051858:Forkhead Transcription Factors