1. ¹Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
2. ²Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria

Correspondence: Dr G Utermann, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Schoepfstrasse 41, A-6020 Innsbruck, Austria. Tel: +43 512 507 3451; Fax: +43 512 507 2861. E-mail: gerd.utermann@uibk.ac.at

Received 28 June 2005; Revised 1 September 2005; Accepted 16 September 2005; Published online 2 November 2005.

Abstract

Plasma lipoprotein(a) (Lp(a)) is a quantitative trait associated with atherothrombotic disease in European and Asian populations. Lp(a) concentrations vary widely within and between populations, with Africans exhibiting on average two- to threefold higher Lp(a) levels and a different distribution compared to Europeans. The apo(a) gene locus on chromosome 6q26–27 (LPA, MIM 152200) has been identified as the major quantitative trait locus (QTL) for Lp(a) concentrations in Europeans and populations of African descent (North American and South African Blacks) but data on autochthonous Black Africans are lacking.

Here, we have analysed Lp(a) plasma concentrations, apo(a) isoforms in plasma and four polymorphisms in the LPA gene in 31 African families with 54 children from Gabon. Weighted midparent–offspring regression estimated a heritability h²=0.76. The correlation of Lp(a) levels associated with LPA alleles identical by descent (IBD) resulted in a heritability estimate of 0.801. Our data demonstrate that Lp(a) concentrations are highly heritable in a Central African population without admixture and high Lp(a) (median 43 mg/dl). LPA is the major QTL, explaining most or all of the heritability of Lp(a) in this population.