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  • 1 Genetikával Az Egészségért Egyesület Budapest
  • 2 Zirc Városi Erzsébet Kórház-Rendelőintézet Zirc
  • 3 Semmelweis Egyetem, Általános Orvostudományi Kar II. Szülészeti és Nőgyógyászati Klinika Budapest Üllői út 78/A 1082
  • 4 Semmelweis Egyetem, Általános Orvostudományi Kar Szív- és Érgyógyászati Klinika Budapest
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A vérplazma emelkedett lipidszintje a cardiovascularis betegségek kialakulásának egyik legfőbb kockázati tényezője, amelyet elsődleges halálokként tartanak számon. Az apolipoprotein E a lipidek szállításában vesz részt a vérben, ezért polimorfizmusai befolyásolják a plazma lipidösszetételét. Az apolipoprotein E génjének három leggyakoribb alléljai az e2, az e3 és az e4. A két nem vad típusú allél, az e2 és e4 közül az utóbbi számos vizsgálat eredménye szerint szerepet játszik a szív-ér rendszeri betegségek, valamint az Alzheimer-kór kialakulásában. Az e2/e2 homozigóta genotípust a 3-as típusú hyperlipoproteinaemia egyik előidézőjeként említik egyes tanulmányok. Mivel az apolipoprotein E nemcsak a lipidanyagcsere útján, hanem más biokémiai útvonalakon is befolyásolhatja a cardiovascularis betegségek manifesztációját, így kiemelkedő fontosságú lehet ezen anyagcsereutak molekuláris hátterének felderítése. Orv. Hetil., 2012, 153, 2070–2076.

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