title: Mutational screening of SF1 and WNT4 in Tunisian women with premature ovarian failure.
abstract: BACKGROUND
  WNT4 and SF1 genes play an important role in ovarian development. They constitute coherent candidate genes associated with premature ovarian failure (POF) pathogenesis.
  
  
  METHODS
  We sequenced the coding region of WNT4 and SF1 in 55 Tunisian women with POF and 100 healthy controls.
  
  
  RESULTS
  We 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.
  
  
  CONCLUSIONS
  SF1 Gly146Ala polymorphism seems to be associated with POF pathology in the Tunisian population likely by reducing estradiol levels.
authors.affiliation: Cytogenetics and Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia. besma_lakhal@yahoo.fr
authors.forename: Besma
authors.initials: B
authors.lastname: Lakhal
authors.forename: Sonia
authors.initials: S
authors.lastname: Ben-Hadj-Khalifa
authors.forename: Nouha
authors.initials: N
authors.lastname: Bouali
authors.forename: Rim
authors.initials: R
authors.lastname: Braham
authors.forename: Elghezal
authors.initials: E
authors.lastname: Hatem
authors.forename: Ali
authors.initials: A
authors.lastname: Saad
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D006801:Humans; D009154:Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D054339:Steroidogenic Factor 1 / Q000235:genetics*; D014416:Tunisia; D060528:Wnt4 Protein / Q000235:genetics*
chemical_list: C515057:NR5A1 protein, human; D054339:Steroidogenic Factor 1; C555581:WNT4 protein, human; D060528:Wnt4 Protein