27 KB129 KB21 KB192920262002Hawlina, MarkoPeterlin, BorutRotar, Melitaletnik:71str. II-147-II-150številka:supl. 2ISSN:1318-0347COBISSID:14715609URN:URN:NBN:SI:doc-XCVXSQQ0slSlovensko zdravniško društvoZdravniški vestnikdedne boleznifiziologijaGenotipGenotypeoftalmologijaPolimeraza, verižna reakcijaPolimorfizem (genetika)Polymerase chain reactionPolymorphism (genetics)Receptorji dopaminskiReceptors, dopamineRetinitis pigmentosaretinopatijaPolimorfizmi dopaminskih receptorjev pri bolnikih s pigmentno retinopatijo| Polymorphisms of dopamine receptors in patients with retinitis pigmentosa|Background. Dopamine (DA) has a specific role in modulation of retinal function, renewal and phagocytosis of shed discs by the retinal pigment epithelium. Animal model of RCS (Royal College of Surgeons) rats which have impaired retinal phagocytosis has shown an appearance similar to the clinical picture seen in patients with advanced retinitis pigmentosa (RP). Based on RCSrats' studies and the fact that DA has an important role in retinal renewalwe assume that certain DA receptor polymorphisms might play a role in pathogenesis of RP. Materials and methods. We compared a group of 65 RP patients and 80 healthy individuals. Using PCR method and restriction with Ddel, Taql or Mspl restriction enzymes (DRD1, DRD2, DRD3 respectively) we determined the polymorphisms of DRD1, DRD2 and DRD3. Three models of expression (codominant, dominant, recessive) were statistically compared with , chi2-test. Results. We found an evidence for association between DRD2 Taql RFLP, OR = 1.9 (95% CL: 1.7-2.3), p = 0.08, under autosome recessive model of inheritance. Other models for any of the DRD polymorphisms did not show a significant association with RP. Conclusions. A potential association was found between RP and DRD2 polymorphism. Further investigation is needed to confirm potential implication of DRD2 in the pathogenests of RPIzhodišča. Dopamin (DA) ima pomembno vlogo pri delovanju mrežnice, obnavljanjuin fagocitozi izrabljenih diskov fotoreceptorskih celic v pigmentnem epiteliju. Živalski model podgan RCS (Royal College of Surgeons) z okvarjeno fagocitozo je pokazal podobno sliko, kot jo vidimo pri bolnikih z napredovalo pigmentno retinopatijo (RP). Na podlagi raziskav na podganah in ugotovitvi, da ima DA pomembno vlogo pri obnavljanju mrežnice, sklepamo, da sonekateri polimorfizmi DA receptorjev lahko udeleženi pri nastanku RP pri človeku. Materiali in metode. Primerjali smo skupino 65 bolnikov in 80 zdravihIjudi. Z metodo polimerazne verižne reakcije in cepitvijo z encimi Ddel(DRD1), Taql (DRD2) in Mspl (DRD3) smo določali polimorfizme dopaminskih receptorjev D1, D2 in D3 (DRD1, DRD2 in DRD3). Statistično smo primerjali tri modele izražanja alelov (kodominantni, dominantni in recesivni) s hi2-testom. Rezultati. Ugotovili smo povezavo med RP in DRD2 TaqI RFLP po avtosomno recesivnem modelu izražanja (OR = 1,9 (95% CI: 1,7-2,3), p = 0,08). Ostali polimorfizmi in modeli izražanja niso pokazali pomembne povezave z RP. Zaključki. Opozorili smo na možen pomen DRD2 receptorja pri patogenezi RP, vendar je treba narediti nadaljnje raziskave na večjem vzorcu bolnikovTEXTznanstveno časopisjejournalsSlovenian National E-content AggregatorNational and University Library of SloveniaSlovensko zdravniško društvo