Genetics
Lp(a) LPA gene copy number variation remains only partly understood despite its strong coronary disease link, a review of Lp(a) structure and genetics (J Lipid Res 2016)
Original title: Structure, function, and genetics of lipoprotein (a)
This review by Schmidt, Noureen, Kronenberg and Utermann summarises current knowledge of Lp(a) structure, function and genetics, focusing on the molecular and population genetics of the Lp(a)/LPA trait and its genetic epidemiology. The review highlights the intragenic multiallelic copy number variation in the LPA gene and Lp(a) strong association with coronary heart disease (CHD), emphasising genetics role in establishing Lp(a) as a CHD risk factor. The authors also discuss remaining uncertainties, controversies and gaps in knowledge about the genetic Lp(a) trait, including its still poorly understood biological function.
Original abstract
Lipoprotein (a) [Lp(a)] has attracted the interest of researchers and physicians due to its intriguing properties, including an intragenic multiallelic copy number variation in the LPA gene and the strong association with coronary heart disease (CHD). This review summarizes present knowledge of the structure, function, and genetics of Lp(a) with emphasis on the molecular and population genetics of the Lp(a)/LPA trait, as well as aspects of genetic epidemiology. It highlights the role of genetics in establishing Lp(a) as a risk factor for CHD, but also discusses uncertainties, controversies, and lack of knowledge on several aspects of the genetic Lp(a) trait, not least its function.
Summary written by lp-a.org from the published abstract; figures as published. Page updated 18 August 2026. Methods.