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Fertil Steril. 2008 Sep;90(3):699-708. Epub 2007 Oct 22.

Low-density lipoprotein receptor-related protein-5 C/T polymorphism in exon 18 is associated with C peptide and proinsulin levels in control women and patients with polycystic ovary syndrome.

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Institute of Endocrinology, Charles University, Prague, Czech Republic.



To assess the previously unstudied potential role of C/T (A1330V) polymorphism of the low-density lipoprotein receptor-related protein-5 gene in insulin sensitivity and secretion in polycystic ovary syndrome. The low-density lipoprotein receptor-related protein-5 gene has been found to play a role in determining insulin secretion in animal models.


Case-control study.


Tertiary outpatient clinic.


Women with polycystic ovary syndrome (n = 299; age, 27.5 +/- 7.1 y [mean +/- SD]), according to the European Society of Human Reproduction and Embryology criteria, as well as healthy control women (n = 187, age, 28.9 +/- 9.8 y).


Oral glucose tolerance test, blood sampling.


Glucose, insulin, C peptide, proinsulin during oral glucose tolerance tests, and lipids. Genotyping of C/T (A1330V) polymorphism by polymerase chain reaction-restriction fragment length polymorphism.


There was no difference in the frequency of genotypes between women with polycystic ovary syndrome (CC/CT/TT: 80.3%, 18.4%, 1.3%) and the control women (79.1%, 19.8%, and 1.1%). Carriers of the T allele had statistically significantly higher basal and stimulated C peptide and proinsulin levels than CC homozygotes, both basally and at the 180th minute. Regarding insulin sensitivity, there was no difference between T carriers and CC homozygotes.


Polymorphism of C/T in the low-density lipoprotein receptor-related protein-5 gene is associated with C-peptide and proinsulin secretion but does not influence insulin sensitivity in either healthy women or women with polycystic ovary syndrome.

[Indexed for MEDLINE]

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