• Melita T. Kermavnar Služba za medicinsko genetiko Ginekološka klinika Klinični center Šlajmerjeva 3 1525 Ljubljana
  • Borut Peterlin Služba za medicinsko genetiko Ginekološka klinika Klinični center Šlajmerjeva 3 1525 Ljubljana
  • Marko Hawlina Očesna klinika Klinični center Zaloška 29 1525 Ljubljana
Keywords: retinitis pigmentosa, dopamine receptors, polymorphisms


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 RCS rats’ studies and the fact that DA has an important role in retinal renewal we 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 DdeI, TaqI or MspI 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 χ 2-test.

Results. We found an evidence for association between DRD2 TaqI RFLP, OR = 1.9 (95% CI: 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 pathogenesis of RP.


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How to Cite
T. Kermavnar M, Peterlin B, Hawlina M. POLYMORPHISMS OF DOPAMINE RECEPTORS IN PATIENTS WITH RETINITIS PIGMENTOSA. ZdravVestn [Internet]. 1 [cited 30Mar.2020];71. Available from: https://vestnik.szd.si/index.php/ZdravVest/article/view/1753
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