Concentrations of the atherogenic Lp(a) are elevated in FH

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Cell-free Biochemical Fluorometric Enzymatic Assay for High-throughput Measurement of Lipid Peroxidation in High Density Lipoprotein
07:29

Cell-free Biochemical Fluorometric Enzymatic Assay for High-throughput Measurement of Lipid Peroxidation in High Density Lipoprotein

Published on: October 12, 2017

A Lingenhel1, H G Kraft, M Kotze

  • 1Institut für Medizinische Biologie und Humangenetik, Universität Innsbruck, Austria.

European Journal of Human Genetics : EJHG
|October 22, 1998
PubMed

Insights

Familial hypercholesterolemia (FH) significantly elevates Lipoprotein(a) (Lp(a)) levels, increasing coronary heart disease risk. This study used a sib pair approach to confirm FH

Area of Science:

  • Genetics and Cardiovascular Medicine
  • Lipid Metabolism and Atherosclerosis Research

Background:

  • Lipoprotein(a) (Lp(a)) is a plasma lipoprotein linked to coronary heart disease (CHD) risk, especially with elevated low-density lipoprotein (LDL).
  • Familial hypercholesterolemia (FH) is a genetic disorder characterized by high LDL, xanthomas, and premature CHD, caused by mutations in the LDL receptor (LDLR) gene.

Purpose of the Study:

  • To investigate the impact of familial hypercholesterolemia (FH) on Lipoprotein(a) (Lp(a)) levels.
  • To utilize a sib pair approach to disentangle the genetic influences of the LDLR and apolipoprotein(a) (apo(a)) genes on Lp(a) concentrations in FH patients.

Main Methods:

  • Analyzed 367 family members from 30 South African and 30 French Canadian FH index patients.
  • Genotyped for both LDLR mutations and apo(a) gene variants.
  • Employed a sib pair analysis, comparing individuals identical by descent (i.b.d.) at the apo(a) locus but differing in FH status.

Main Results:

  • FH individuals exhibited significantly higher Lp(a) levels compared to non-FH relatives, irrespective of apo(a) allele distribution.
  • Sib pairs with FH showed significantly elevated Lp(a) concentrations.
  • Specific apo(a) alleles were associated with higher Lp(a) levels in FH subjects, with Lp(a) variability being highest in FH individuals.

Conclusions:

  • Familial hypercholesterolemia significantly contributes to elevated Lp(a) levels.
  • The sib pair analysis successfully identified the effect of FH on Lp(a) in the presence of apo(a) gene influence.
  • Elevated Lp(a) may exacerbate coronary heart disease risk in patients with familial hypercholesterolemia.

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