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  • 1 Semmelweis Egyetem, Általános Orvostudományi Kar II. Belgyógyászati Klinika Budapest Szentkirályi u. 46.
  • 2 Magyar Tudományos Akadémia Endokrinológiai és Gasztroenterológiai Kutatócsoport Budapest
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A máj- és epebetegségek, néhány kivételtől eltekintve, komplex betegségek, azaz kialakulásuk több géntermék, illetve a környezet együtthatásának az eredménye. A családi halmozódás, illetve a monozigóta ikrekben tapasztalt, a dizigóta ikrekét meghaladó konkordanciaarány bizonyítja a genetikai tényezők jelentőségét a patogenezisben. Szerzők az alkoholos, a nem alkoholos májbetegség, a gyógyszer okozta májkárosodások, a primaer biliaris cirrhosis, a primaer sclerotisáló cholangitis, valamint az epekövesség kialakulására hajlamosító genetikai eltéréseket foglalják össze. Az öröklődésben valószínűleg szerepet játszó, hajlamosító gének és szerepük a jövőben megerősítésre vár. A kórképek pontos genetikai hátterének megismerése a jövőben a megelőzést, a diagnózist, a betegség lefolyásának, prognózisának és a szövődmények előrejelzését, valamint az egyénre szabott gyógyszerelés kiválasztását segítheti.

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