title: No evidence for mutations of the leptin or leptin receptor genes in women with polycystic ovary syndrome.
abstract: Polycystic ovarian syndrome (PCOS) is often associated with obesity and insulin resistance, both of which are features that are linked to the leptin and leptin receptor (LEPR) genes. Analysis of the leptin gene by sequencing samples from 38 well-characterized patients with PCOS revealed no mutations of the coding exons. In single-stranded conformational polymorphism (SSCP) analysis and subsequent sequencing of the LEPR gene revealed previously identified amino acid variants in exons 2, 4 and 12 as well as the pentanucleotide insertion in the 3'-untranslated region (3'-UTR). The allele frequencies of these polymorphisms did not differ from those in the general population, as assessed in 122 female controls. Compared with non-carriers, serum insulin concentrations tended to be lower in the carriers of the variant LEPR exon 12 allele as well as in the carriers of the variant LEPR 3'-UTR allele, a marker previously suggested to be associated with serum insulin concentrations. In conclusion, PCOS is not commonly a consequence of mutations of the leptin or LEPR genes. However, our data support the hypothesis that variations in the LEPR gene locus have an effect on insulin regulation.
authors.affiliation: Department of Medicine, University of Helsinki, Helsinki, Finland.
authors.forename: L
authors.initials: L
authors.lastname: Oksanen
authors.forename: A
authors.initials: A
authors.lastname: Tiitinen
authors.forename: J
authors.initials: J
authors.lastname: Kaprio
authors.forename: H A
authors.initials: HA
authors.lastname: Koistinen
authors.forename: S
authors.initials: S
authors.lastname: Karonen
authors.forename: K
authors.initials: K
authors.lastname: Kontula
mesh_terms: D000328:Adult; D001786:Blood Glucose / Q000032:analysis; D015992:Body Mass Index; D002352:Carrier Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007328:Insulin / Q000097:blood; D020738:Leptin / Q000097:blood / Q000235:genetics*; D008875:Middle Aged; D011085:Polycystic Ovary Syndrome / Q000209:etiology / Q000235:genetics*; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D011956:Receptors, Cell Surface; D054411:Receptors, Leptin; D013739:Testosterone / Q000097:blood
chemical_list: D001786:Blood Glucose; D002352:Carrier Proteins; D007328:Insulin; C515448:LEPR protein, human; D020738:Leptin; D011956:Receptors, Cell Surface; D054411:Receptors, Leptin; D013739:Testosterone