Short CommunicationMutational screening of SF1 and WNT4 in Tunisian women with premature ovarian failure

BackgroundWNT4 and SF1 genes play an important role in ovarian development. They constitute coherent candidate genes associated with premature ovarian failure (POF) pathogenesis.MethodsWe sequenced the coding region of WNT4 and SF1 in 55 Tunisian women with POF and 100 healthy controls.ResultsWe identified a synonymous variation in WNT4 (c.99G>A, p.Ser33Ser) and a substitution (c.G437C) in SF1 gene inducing G146 to Ala (GGG-GCG) missense mutation. WNT4 (c.99G>A, p.Ser33Ser) was not associated with POF pathology. However, a positive association of SF1 Gly146Ala polymorphism was noted. Gly146Ala minor allele frequency was significantly higher (p = 0.029) in POF patients versus controls and Ala allele containing genotypes (p = 0.005) were positively associated with POF pathology. The carriage of 146Ala allele was also associated with a significant reduction in estradiol plasma levels.ConclusionsSF1 Gly146Ala polymorphism seems to be associated with POF pathology in the Tunisian population likely by reducing estradiol levels.

► Mutations in WNT4 gene are not associated with POF in Tunisian women. ► Positive association of SF1 Gly146Ala polymorphism with POF pathology was seen. ► Association of SF1 Gly146Ala with estradiol plasma level alteration