Molecular Human Reproduction, Vol. 6, No. 10, 873-876,
October 2000
© 2000 European Society of Human Reproduction and Embryology
Ovary and oogenesis |
No evidence for mutations of the leptin or leptin receptor genes in women with polycystic ovary syndrome
1 Department of Medicine, University of Helsinki, 2 Department of Obstetrics and Gynecology, University of Helsinki, 3 Department of Public Health, University of Helsinki, and 4 Department of Clinical Chemistry, Helsinki University Central Hospital, FIN-00290 Helsinki, Finland
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.
insulin/leptin/leptin receptor/obesity/polycystic ovary syndrome
Notes
5 To whom correspondence should be addressed at: Department of Medicine, University of Helsinki, FIN-00290 Helsinki, Finland. E-mail: kimmo.kontula{at}hus.fi
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  M. Simoni, C.B. Tempfer, B. Destenaves, and B.C.J.M. Fauser Functional genetic polymorphisms and female reproductive disorders: Part I: polycystic ovary syndrome and ovarian response Hum. Reprod. Update, September 1, 2008; 14(5): 459 - 484. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E. Diamanti-Kandarakis and C. Piperi Genetics of polycystic ovary syndrome: searching for the way out of the labyrinth Hum. Reprod. Update, November 1, 2005; 11(6): 631 - 643. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 H. F. Escobar-Morreale, M. Luque-Ramirez, and J. L. San Millan The Molecular-Genetic Basis of Functional Hyperandrogenism and the Polycystic Ovary Syndrome Endocr. Rev., April 1, 2005; 26(2): 251 - 282. [Abstract] [Full Text] [PDF]
|
|