Effect of protein convertase subtilisin/kexin type 9 (PCSK9) 46L gene polymorphism on LDL cholesterol concentration in a Polish adult population

Mol Genet Metab. 2008 Jun;94(2):259-62. doi: 10.1016/j.ymgme.2008.02.003. Epub 2008 Mar 14.

Abstract

The purpose was to study the effect of PCSK9 46L on cholesterol concentration and cardiovascular morbidity. By comparing 176 carriers with 6618 non-carriers identified through a cross-sectional population study (WOBASZ) we confirmed the LDL lowering effect of PCSK9 46L and demonstrated that it increases with the concentration of LDL. We noted that PCSK9 46L was associated with tendency for protection from myocardial infarction but not stroke suggesting a difference in the effect on susceptibility to these disorders.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Blood / metabolism
  • Cholesterol, LDL / blood*
  • Cross-Sectional Studies
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Middle Aged
  • Myocardial Infarction / diagnosis
  • Myocardial Infarction / genetics*
  • Myocardial Infarction / mortality
  • Polymorphism, Genetic*
  • Proprotein Convertase 9
  • Proprotein Convertases
  • Serine Endopeptidases / genetics*
  • Stroke / diagnosis
  • Stroke / genetics*
  • Stroke / mortality
  • White People / genetics*

Substances

  • Cholesterol, LDL
  • PCSK9 protein, human
  • Proprotein Convertase 9
  • Proprotein Convertases
  • Serine Endopeptidases