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Gene. 2012 Nov 10;509(2):298-301. doi: 10.1016/j.gene.2012.08.007. Epub 2012 Aug 23.

Mutational screening of SF1 and WNT4 in Tunisian women with premature ovarian failure.

Author information

1
Cytogenetics and Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia. besma_lakhal@yahoo.fr

Erratum in

  • Gene. 2013 Sep 10;526(2):498. Audran, Françoise [removed]; Sultan, Charles [removed]; Philipert, Pascal [removed].

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.

PMID:
22951804
DOI:
10.1016/j.gene.2012.08.007
[Indexed for MEDLINE]
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