• 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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RetNet (Retinal Information Network): The University of Texas Health Science Center. Houston, 1996–2000.

Bayes M, Goldaracena B, Martinez-Mir A et al. A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33. J Med Genet 1998; 35: 141–5.

Bayes M, Goldaracena B, Martinez-Mir A et al. A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33. J Med Genet 1998; 35: 141–5.

Hawlina M, Ikeda H. The role of melatonin and dopamine in retinal renewal and degeneration. Zdrav Vestn 1993; 62: Suppl 1: 23–31.

Ikeda H. Mammalian retinal neurotransmitters as seen through the eyes of a neurophysiologist. Zdrav Vestn 1993; 62: Suppl 1: 7–16.

Cavallacci G, Genovesi-Ebert F, Mannini A, Marconcini C, Oliva A, Pucci G. Le basi teoriche ed i resultati clinici della terapia con L-DOPA. In: Wirth A, Cavallacci G eds. Rilazione al LXIV congresso della Societa ophthalmologica Italiana. Roma: Pacini Editore, 1984: 429–42.

Dearry A, Gingrich JA, Falardeau P, Fremeau RT, Bates MD, Caron MG. Molecular cloning and expression of the gene for a human D1 dopamine receptor. Nature 1990; 347: 72–6.

Zhou QY, Grandy DK, Thambi L et al. Cloning and expression of human and rat D1 dopamine receptors. Nature 1990; 347: 76–80.

Sunahara RK, Niznik HB, Weiner DM et al. Human dopamine D1 receptor encoded by an intronless gene on chromosome 5. Nature 1990; 347: 80–3.

Bunzow JR, Van Tol HH, Grandy DK et al. Cloning and expression of a rat D2 dopamine receptor cDNA. Nature 1988; 336: 783–7.

Giros B, Sokoloff P, Martres MP, Riou JF, Emorine LJ, Schwartz JC. Alternative splicing directs the expression of two D2 dopamine receptor isoforms. Nature 1989; 342: 923–6.

Sokoloff P, Giros B, Martres MP, Bouthenet ML, Schwartz JC. Molecular cloning and characterization of a novel dopamine receptor (D3) as a target for neuroleptics. Nature 1990; 347: 146–51.

Van Tol HHM, Wu CM, Guan HC et al. Multiple dopamine D4 receptor variants in the human population. Nature 1992; 358: 149–52.

Kebabian JW. Multiple dopamine receptors and their implications in medicine. Curr Opin Neurol Neurosurg 1992; 5 (4): 514–8. Review.

Sambrook J, Fritsch EF, Maniatis RT. Molecular cloning. 2nd ed. New York: Cold Spring Harbor, 1989.

Erlich HA. PCR technology. Principles and applications for DNA amplification. New York: Stockton Press, 1989: 7–17.

Cichon S, Noethen MM, Erdmann J, Propping P. Detection of four polymorphic sites in the human dopamine D1 receptor gene (DRD1). Hum Mol Genet 1994; 3: 209–9.

Noble EP, Gottschalk LA, Fallon JH, Ritchie TL, Wu JC. D2 dopamine receptor polymorphism and brain regional glucose metabolism. Am J Med Genet 1997; 74: 162–6.

Grandy DK, Zhang Y, Civelli O. PCR detection of the TaqA RFLP at the DRD2 locus. Hum Mol Genet 1993; 2: 2197–7.

Noble EP, Ozkaragoz TZ, Ritchie TL, Zhang X, Belin TR, Sparkes RS. D2 and D4 dopamine receptor polymorphisms and personality. Am J Med Genet 1998; 81: 257–67.

Blum K, Noble EP, Sheridan PJ et al. Allelic association of human dopamine D2 receptor gene in alcoholism. JAMA 1990; 263: 2055–60.

Grandy DK, Litt M, Allen L et al. The human dopamine D2 receptor gene is located on chromosome 11 at q22-q23 and identifies a TaqI RFLP. Am J Hum Genet 1989; 45: 778–85.

Small GW, Noble EP, Matsuyama SS et al. D2 dopamine receptor A1 allele in Alzheimer disease and aging. Arch Neurol 1997; 54: 281–5.

Bierut LJ, Rice JP, Edenberg HJ et al. Family-based study of the association of the dopamine D2 receptor gene (DRD2) with habitual smoking. Am J Med Genet 2000; 90: 299–302.

Gaitonde EJ, Morris A, Sivagnanasundaram S, McKenna PJ, Hunt DM, Mollon JD. Assessment of association of D3 dopamine receptor MscI polymorphism with schizophrenia: analysis of symptom ratings, family history, age at onset, and movement disorders. Am J Med Genet 1996; 67: 455–8.

Griffon N, Crocq MA, Pilon C et al. Dopamine D3 receptor gene: organization, transcript variants, and polymorphism associated with schizophrenia. Am J Med Genet 1996; 67: 63–70.

Tomitaka M, Tomitaka S, Otuka Y et al. Association between Novelty seeking and dopamine receptor D4 (DRD4) exon III polymorphism in Japanese subjects. Am J Med Genet 1999; 88: 469–71.

Ebstein RP, Novick O, Umansky R et al. Dopamine D4 receptor (D4DR) exon III polymorphism associated with the human personality trait of novelty seeking. Nat Genet 1996; 12: 78–80.

Ricketts MH, Hamer RM, Manowitz P, Feng F, Sage JI, Di Paola R, Menza MA. Association of long variants of the dopamine D4 receptor exon III repeat polymorphism with Parkinson’s disease. Clin Genet 1998; 54: 33–8.

Lichter JB, Barr CL, Kennedy JL, Van Tol HHM, Kidd KK, Livak KJ. A hypervariable segment in the human dopamine receptor D4 (DRD4) gene. Hum Mol Genet 1993; 2 (6): 767–73.

Sommer SS, Sobell JL, Heston LL. A common exonic polymorphism in the human D5 dopamine receptor gene. Hum Genet 1993; 92: 633–4.

Gibco BRL. Molecular biology 98–99 catalogue. Life Technologies 1998.

Innis MA, Gelfand DH, Sninsky JJ, White TJ. PCR protocols. A guide to methods and applications. San Diego: Academic Press, 1990: 3–20.

Bubenik GA, Purtill RA. The role of melatonin and dopamine in retinal physiology. Can J Physiol Pharmacol 1980; 58: 1457–62.

How to Cite
T. Kermavnar M, Peterlin B, Hawlina M. POLYMORPHISMS OF DOPAMINE RECEPTORS IN PATIENTS WITH RETINITIS PIGMENTOSA. ZdravVestn [Internet]. 1 [cited 18Apr.2019];71. Available from: https://vestnik.szd.si/index.php/ZdravVest/article/view/1753
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