title: Allelic variants of the follistatin gene in polycystic ovary syndrome.
abstract: In an earlier study of 37 candidate genes for polycystic ovary syndrome (PCOS), the strongest evidence for genetic linkage was found with the region of the follistatin gene. We have now carried out studies to detect variation in the follistatin gene and assess its relevance to PCOS. By sequencing the gene in 85 members of 19 families of PCOS patients, we found sequence variants at 17 sites. Of these, 16 sites have variants that are too rare to make a major contribution to susceptibility; the only common variant is a single base pair change in the last exon at a site that is not translated. In our sample of 249 families, the evidence for linkage between PCOS and this variant is weak. We also examined the expression of the follistatin gene; messenger RNA levels in cultured fibroblasts from PCOS and control women did not differ appreciably. We conclude that contributions to the etiology of PCOS from the follistatin gene, if any, are likely to be small.
authors.affiliation: Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104-6145, USA. murbanek@mail.upenn.edu
authors.forename: M
authors.initials: M
authors.lastname: Urbanek
authors.forename: X
authors.initials: X
authors.lastname: Wu
authors.forename: K R
authors.initials: KR
authors.lastname: Vickery
authors.forename: L C
authors.initials: LC
authors.lastname: Kao
authors.forename: L K
authors.initials: LK
authors.lastname: Christenson
authors.forename: A
authors.initials: A
authors.lastname: Schneyer
authors.forename: R S
authors.initials: RS
authors.lastname: Legro
authors.forename: D A
authors.initials: DA
authors.lastname: Driscoll
authors.forename: J F
authors.initials: JF
authors.lastname: Strauss
authors.forename: A
authors.initials: A
authors.lastname: Dunaif
authors.forename: R S
authors.initials: RS
authors.lastname: Spielman
mesh_terms: D000483:Alleles; D001483:Base Sequence; D002478:Cells, Cultured; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D038681:Follistatin; D005838:Genotype; D006023:Glycoproteins / Q000235:genetics*; D006133:Growth Substances / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D010641:Phenotype; D011085:Polycystic Ovary Syndrome / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D011401:Promoter Regions, Genetic / Q000235:genetics; D012333:RNA, Messenger / Q000096:biosynthesis; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D038681:Follistatin; D006023:Glycoproteins; D006133:Growth Substances; D012333:RNA, Messenger