Evaluation of PCSK9 levels and its genetic polymorphisms in women with polycystic ovary syndrome

Gene. 2018 Feb 20;644:129-136. doi: 10.1016/j.gene.2017.11.006. Epub 2017 Nov 7.


Dyslipidemia is one of the common metabolic disorders in Polycystic Ovary Syndrome (PCOS). Proprotein convertase subtilisin kexin type 9 (PCSK9) is a new component of lipid metabolism and correlated to the development of dyslipidemia and atherosclerosis. This protein acts by preventing the recycling of LDL receptors (LDL-r) back to the cell surface and thus generates higher levels of LDLc. The objective of this study was to evaluate the PCSK9 polymorphisms rs505151 (c.2009A>G), rs562556 (c.1420A>G) and rs11206510 (T>C) and plasma PCSK9 levels in PCOS. A group of women with PCOS (n=97), and a group of healthy women (control, n=99) were selected. Biochemical parameters were determined by using Vitros system and polymorphisms were assessed by TaqMan SNP Genotyping Assays. Plasma PCSK9 levels or PCSK9 polymorphisms were not associated with PCOS. The genotype rs11206510TT was associated with higher levels of PCSK9 in both groups. The population investigated (PCOS+control groups) with the rs505151AA genotype presented higher HDLc levels. The GG genotype regarding rs562556 polymorphism was associated with higher HDLc in PCOS group, while the AA genotype carriers had higher plasma testosterone levels when evaluated all women in a same group. The results were the same by comparing recessive and dominant model despite PCOS or both groups altogether. Our results suggest that PCSK9 is not altered specifically in PCOS, but it could be associated with in lipid and androgen metabolism in Brazilian women.

Keywords: Cholesterol; Dyslipidemia; PCSK9; Polycystic ovary syndrome; Polymorphisms.

MeSH terms

  • Adult
  • Brazil
  • Case-Control Studies
  • Cholesterol, LDL / genetics
  • Dyslipidemias / genetics
  • Female
  • Gene Frequency / genetics
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Humans
  • Lipids / genetics
  • Polycystic Ovary Syndrome / genetics*
  • Polymorphism, Single Nucleotide / genetics*
  • Proprotein Convertase 9 / genetics*
  • Receptors, LDL / genetics


  • Cholesterol, LDL
  • Lipids
  • Receptors, LDL
  • PCSK9 protein, human
  • Proprotein Convertase 9