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DOI: 10.18544/PEDM-21.01.0023
Pediatr Endocrino Diabetes Metab 2015;21,1:37-45

Gene polymorphism and dyslipidemias

Magdalena Czajka, Patrycja Rachubik, Justyna Rzeszutek, Magdalena Matysiak, Marcin Kruszewski, Lucyna Kapka-Skrzypczak

Key words

gene polymorphism, LDLR, apolipoproteins, LCAT, CETP

Abstract

Dyslipidemia is a broad spectrum of disorders characterized by an abnormal concentration and/or composition of lipoproteins in the blood serum. Althogh these symptoms may accompany other diseases, but usually they are caused by primary dyslipidemias resulting from interactions of environmental factors and genetic predispositions. This paper summarizes the current state of knowledge about the genetic basis of dyslipidemias. So far, gene polymorphisms associated with lipid disorders were described for genes encoding apolipoproteins, receptor proteins responsible for transport of lipoproteins to cells, proteins transporting cholesterol from peripheral cells, cholesterol ester transfer proteins and enzymes involved in cholesterol synthesis. This article presents a brief characterization of the genes and their encoded proteins and defines their connection with the concentration of lipids in the blood serum.


Article published in polish language



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DOI: 10.18544/PEDM-21.01.0023
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