Author/Editor     Kermavnar, Melita T
Title     Polimorfizmi dopaminskih receptorjev pri bolnikih s pigmentno retinopatijo
Type     monografija
Place     Ljubljana
Publisher     Medicinska fakulteta
Publication year     2000
Volume     str. 28
Language     slo
Abstract     Introduction. Dopamine (DA) is the predominant catecholamine in mammalian retina. It has a specific role in modulation of retinal function and, together with melatonin, retinal renewal and phagocytosis of shed discs by the retinal pigment epithelium. Although the DA cells are only found in the inner plexiform layer, the D1- and D2-type receptors are widespread from the pigment epithelium to the ganglion cells. 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 be a predisposing factor for RP. Materials and methods. We compared a group of 65 RP patients and 80 healthy individuals. DNA was isolated from venous blood by standard procedures. We used primers previously described by different authors to amplify specific DNA segments of three DA receptors (DRDI-3), which were reported to be associated with other diseases. PCR product was cleaved with DdeI, Taql or Mspl restriction enzymes (DRDI, DRD2, DRD3 respectively) and presented on 4% agarose gel for determination of genotypes. Three models of inheritance (codominant, dominant, recessive) were statistically compared with chi-square-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 recessive model of inheritance. Other models of inheritance for any of the DRD polymorphisms did not show a significant association with RP. Conclusion. A potential association was found between RP and DRD2 polymorphism which was previously reported to be associated with novelty seeking behavior, alcoholism and schizophrenia. Further investigation is needed to contirm potential implication of DRD2 in the pathogenesis of RP.
Descriptors     RETINITIS PIGMENTOSA
POLYMORPHISM (GENETICS)
RECEPTORS, DOPAMINE
POLYMERASE CHAIN REACTION
DNA
ELECTROPHORESIS, AGAR GEL
ALLELES
GENOTYPE