en POLSKI
eISSN: 2083-8441
ISSN: 2081-237X
Pediatric Endocrinology Diabetes and Metabolism
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SCImago Journal & Country Rank
1/2015
vol. 21
 
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abstract:
Review paper

Gene polymorphism and dyslipidemias

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

Pediatr Endocrino Diabetes Metab 2015;21,1:37-45
Online publish date: 2015/12/15
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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.
keywords:

gene polymorphism, LDLR, apolipoproteins, LCAT, CETP


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