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  • 1 Vas Megyei Markusovszky Kórház Nonprofit Zrt. Gasztroenterológiai és Belgyógyászati Osztály Szombathely
  • 2 Pécsi Tudományegyetem, Általános Orvostudományi Kar Orvosi Genetikai Intézet Pécs Szigeti u. 12. 7624
  • 3 Pécsi Tudományegyetem, Általános Orvostudományi Kar Családorvostani Intézet és III. Belgyógyászati Klinika Pécs
  • 4 Réthy Pál Kórház Belgyógyászati és Gasztroenterológiai Osztály Békéscsaba
  • 5 Semmelweis Egyetem, Általános Orvostudományi Kar II. Belgyógyászati Klinika Budapest
  • 6 Borsod-Abaúj-Zemplén Megyei Kórház Belgyógyászati Osztály Miskolc
  • 7 Szent Imre Kórház Belgyógyászati Osztály Budapest
  • 8 Semmelweis Oktató Kórház II. Belgyógyászati és Hematológiai Osztály Miskolc
  • 9 Pécsi Tudományegyetem, Egészségtudományi Kar Szombathelyi Képzési Központ Szombathely

Az idiopathiás krónikus gyulladásos bélbetegség kialakulásában környezeti tényezők, immunológiai és genetikai faktorok egyaránt szerepet játszanak. Az utóbbi években a CARD15 gén mellett egyre több adat támasztja alá más gének, többek között az 5q31-33 régióban elhelyezkedő IBD5 locus (MIM#606348) szerepét. Egyes tanulmányok ezen régióban az SLC22A4 gén C1672T szubsztitúciójának, illetve az SLC22A5 gén G-207C transzverziójának együttes szerepét hangsúlyozzák, különösen Crohn-betegség kialakulásában, míg más szerzők új minor hajlamosító tényezőket azonosítottak az IBD5 kromoszómarégióban, ezek az IGR-variánsok. Célkitűzés: Az SLC22A4 C1672T és SLC22A5 G-207C mutációk mellett az IGR2096a_1 (rs12521868) és az IGR2198a_1 (rs11739135) polimorfizmusok szerepének vizsgálata gyulladásos bélbetegség kialakulásában. Betegek és módszer: Vizsgálatunk során 440 gyulladásos bélbeteg (206 Crohn- és 234 colitis ulcerosás beteg), valamint 279 kontrollegyén perifériás vérmintájából PCR-RFLP technikával végeztünk DNS-analízist. Eredmények: Sem a C1672T, sem a G-207C allélek, sem a TC haplotípus nem bizonyult rizikófaktornak sem Crohn-betegség, sem colitis ulcerosa esetében. Ezzel ellentétben mindkét minor IGR allél frekvenciája: mind az IGR2096a_1 T (48,1%), mind az IGR2198a_1 C (46,1%) szignifikánsan magasabb volt Crohn-betegségben a kontrollokéhoz (38,5%, 38,4%) képest (p<0,05). Korra és nemre standardizált regressziós analízissel mindkét allélnél fokozott rizikót észleltünk Crohn-betegség vonatkozásában (T-allél: OR=1,694, 95%-os CI: 1,137–2,522, p=0,010, C-allél: OR=1,644, 95%-os CI=1,103–2,449, p=0,015). Colitis ulcerosa esetén nem találtunk összefüggést a két IGR-variáns és a betegség kialakulása között. Következtetés: az IGR minor alléleknek a környező kaukázusi népcsoportoktól eltérően magyarországi populációban szerepük lehet a Crohn-betegség kialakulásában.

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