Apolipoprotein AV and Triglyceridemia
Apolipoprotein AV a triglyceridémie
Vysoká hladina plazmatických triglyceridů je jedním z rizikových faktorů aterosklerózy a její klinické komplikacejsou nejčastější příčinou úmrtí v průmyslově vyspělých zemích. Ví se, že plazmatické hladiny triglyceridů jsoučástečnědě dičné. Současné experimenty na geneticky modifikovaných myších (transgenní a knock-out zvířata)ukázaly na klíčovou roli nového apolipoproteinu AV (apoAV) v determinaci plazmatických triglyceridů. V sekvencilidského genu pro apoAV bylo popsáno více než deset variant. Asociace mezi čtyřmi z nich (T-1131→C, Ser19→Trp,Val153→Met a Cys185→Gly) a plazmatickými triglyceridy jsou intenzivněsl edovány v různých populacích. I kdyžs určitými etnickými rozdíly, alely C-1131, Trp19 a Cys185 (prozatím detekována pouze u čínské populace) jsouspojené s vyššími hladinami triglyceridů. První studie rovněž ukazují, že T-1131→C a Ser19→Trp apoAV variantymohou ovlivnit riziko infarktu myokardu a velikost LDL částic. Val153→Met varianta není nijak spjata s hladinamitriglyceridů, ale ženy s genotypem Val153Val mají zvýšenou hladinu HDL cholesterolu.
Klíčová slova:
apolipoprotein AV, triglyceridy, infarkt myokardu, polymorfizmus.
Authors:
J. A. Hubáček
Authors‘ workplace:
Centrum experimentálního výzkumu chorob srdce a cév – IKEM, Praha
Published in:
Čas. Lék. čes. 2004; : 799-803
Category:
Overview
High plasma triglyceride levels have been suggested to be independent risk factors of cardiovascular diseasedevelopment and cardiovascular diseases are the most common cause of death in industrial countries around theworld. It is known, that plasma levels of triglycerides are partially genetically determined. The importance of apoAVgene for determination of plasma triglyceride levels has been suggested by creations of transgenic and knock-outmice and confirmed on population studies. More then ten variants have been described in the human apoAV gene.Associations between four of them (T-1131→C, Ser19→Trp,Val153→Met a Cys185→Gly) and plasma triglyceridelevels have been intensively analysed in different populations.Althoughwith some differences between ethnic groups,alleles C-1131, Trp19 a Cys185 (so far detected just in Chinese population) are connected with elevated levels ofplasma triglycerides. First analysis have detected that T-1131→C a Ser19→Trp apoAV variants could influence riskof myocardial infarction and size of LDL particles. Val153→Met polymorphism is not associated with plasma levelsof triglycerides, but females homozygous for Val153 have elevated levels of plasma HDL cholesterol.
Key words:
apolipoprotein AV, triglycerides, myocardial infarction, polymorphism.
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