Functional impact of a single-nucleotide polymorphism in the OPRD1 promoter region

Journal of Human Genetics

Volumn 55, Issue 5, 2010, Pages 278-284

  Zhang, Huiping ^a,b   Gelernter, Joel ^a,b   Gruen, Jeffrey R ^a   Kranzler, Henry R ^c   Herman, Aryeh I ^a,b   Simen, Arthur A ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b VA CONNECTICUT HEALTHCARE SYSTEM   (United States)

^c UNIVERSITY OF CONNECTICUT SCHOOL OF MEDICINE   (United States)

Author keywords

D opioid receptor gene; Dual luciferase reporter gene assay; Electrophoretic mobility shift assay; PCR; Promoter polymorphism

Indexed keywords

DELTA OPIATE RECEPTOR; FIREFLY LUCIFERASE; RENILLA LUCIFERIN 2 MONOOXYGENASE; TRANSCRIPTION FACTOR;

ARTICLE; CELL STRAIN HEK293; GEL MOBILITY SHIFT ASSAY; GENE EXPRESSION; GENE FREQUENCY; HUMAN; HUMAN CELL; OPIATE ADDICTION; OPRD1 GENE; POLYMERASE CHAIN REACTION; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM; SUBSTANCE ABUSE;

ALLELES; CELL LINE; ELECTROPHORETIC MOBILITY SHIFT ASSAY; GENE EXPRESSION REGULATION; HUMANS; LUCIFERASES; NUCLEAR PROTEINS; OLIGONUCLEOTIDE PROBES; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; PROTEIN BINDING; RECEPTORS, OPIOID, DELTA; RECOMBINANT FUSION PROTEINS; TRANSCRIPTION FACTORS; TRANSFECTION;

RENILLA LUCIFERASE;

EID: 77952804869     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2010.22     Document Type: Article

References (31)

1. Stengaard-Pedersen, K. Comparative mapping of opioid receptors and enkephalin immunoreactive nerve terminals in the rat hippocampus. A radiohistochemical and immunocytochemical study. Histochemistry 79, 311-333 (1983).
2. Bodnar, R. J. Endogenous opiates and behavior: 2006. Peptides 28, 2435-2513 (2007).
3. Corbett, A. D., Henderson, G., McKnight, A. T. & Paterson, S. J. 75 years of opioid research: the exciting but vain quest for the Holy Grail. Br. J. Pharmacol. 147, S153-S162 (2006).
4. Spanagel, R., Herz, A. & Shippenberg, T. S. Opposing tonically active endogenous opioid systems modulate the mesolimbic dopaminergic pathway. Proc. Natl Acad. Sci. USA 89, 2046-2050 (1992).
5. Shippenberg, T. S., Lefevour, A. & Heidbreder, C. kappa-Opioid receptor agonists prevent sensitization to the conditioned rewarding effects of cocaine. J. Pharmacol. Exp. Ther. 276, 545-554 (1996).
6. Herz, A. Endogenous opioid systems and alcohol addiction. Psychopharmacology (Berl) 129, 99-111 (1997).
7. Zhu, Y., King, M. A., Schuller, A. G., Nitsche, J. F., Reidl, M., Elde, R. P., et al. Retention of supraspinal delta-like analgesia and loss of morphine tolerance in delta opioid receptor knockout mice. Neuron 24, 243-252 (1999).
8. Uhl, G. R., Childers, S. & Pasternak, G. An opiate-receptor gene family reunion. Trends. Neurosci. 17, 89-93 (1994).
9. Mayer, P., Rochlitz, H., Rauch, E., Rommelspacher, H., Hasse, H. E., Schmidt, S., et al. Association between a delta opioid receptor gene polymorphism and heroin dependence in man. Neuroreport 8, 2547-2550 (1997).
10. Gelernter, J. & Kranzler, H. R. Variant detection at the delta opioid receptor (OPRD1) locus and population genetics of a novel variant affecting protein sequence. Hum. Genet. 107, 86-88 (2000).
11. Franke, P., Nothen, M. M., Wang, T., Neidt, H., Knapp, M., Lichtermann, D., et al. Human delta-opioid receptor gene and susceptibility to heroin and alcohol dependence. Am. J. Med. Genet. 88, 462-464 (1999).
12. Xu, K., Liu, X. H., Nagarajan, S., Gu, X. Y. & Goldman, D. Relationship of the deltaopioid receptor gene to heroin abuse in a large Chinese case/control sample. Am. J. Med. Genet. 110, 45-50 (2002).
13. Loh, EW., Fann, C. S., Chang, Y. T., Chang, C. J. & Cheng, A. T. Endogenous opioid receptor genes and alcohol dependence among Taiwanese Han. Alcohol. Clin. Exp. Res. 28, 15-19 (2004).
14. Zhang, H., Kranzler, H. R., Yang, B. Z., Luo, X. & Gelernter, J. The OPRD1 and OPRK1 loci in alcohol or drug dependence: OPRD1 variation modulates substance dependence risk. Mol. Psychiatry 13, 531-543 (2008).
15. De La Vega, F. M., Isaac, H. I. & Scafe, C. R. A tool for selecting SNPs for association studies based on observed linkage disequilibrium patterns. Pac. Symp. Biocomput 11, 487-498 (2006).
16. Orphanides, G. & Reinberg, D. A unified theory of gene expression. Cell 108, 439-451 (2002).
17. Tournamille, C., Colin, Y., Cartron, J. P. & Le Van, K. C. Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-negative individuals. Nat. Genet. 10, 224-228 (1995).
18. Knight, J. C., Udalova, I., Hill, A. V., Greenwood, B. M., Peshu, N., Marsh, K., et al. A polymorphism that affects OCT-1 binding to the TNF promoter region is associated with severe malaria. Nat. Genet. 22, 145-150 (1999).
19. Udalova, I. A., Richardson, A., Denys, A., Smith, C., Ackerman, H., Foxwell, B., et al. Functional consequences of a polymorphism affecting NF-kappaB p50-p50 binding to the TNF promoter region. Mol. Cell Biol. 20, 9113-9119 (2000).
20. Farzaneh-Far, A., Davies, J. D., Braam, L. A., Spronk, H. M., Proudfoot, D., Chan, S. W., et al. A polymorphism of the human matrix gamma-carboxyglutamic acid protein promoter alters binding of an activating protein-1 complex and is associated with altered transcription and serum levels. J. Biol. Chem. 276, 32466-32473 (2001).
21. Reed, S. E., Staley, E. M., Mayginnes, J. P., Pintel, D. J. & Tullis, G. E. Transfection of mammalian cells using linear polyethylenimine is a simple and effective means of producing recombinant adeno-associated virus vectors. J. Virol. Methods 138, 85-98 (2006).
22. Collins, T. J. ImageJ for microscopy. Biotechniques 43, 25-30 (2007).
23. Quandt, K., Frech, K., Karas, H., Wingender, E. & Werner, T. MatInd and MatInspector: new fast and versatile tools for detection of consensus matches in nucleotide sequence data. Nucleic Acids Res. 23, 4878-4884 (1995).
24. Cartharius, K., Frech, K., Grote, K., Klocke, B., Haltmeier, M., Klingenhoff, A., et al. MatInspector and beyond: promoter analysis based on transcription factor binding sites. Bioinformatics 21, 2933-2942 (2005).
25. Heinz, A., Reimold, M., Wrase, J., Hermann, D., Croissant, B., Mundle, G., et al. Correlation of stable elevations in striatal mu-opioid receptor availability in detoxified alcoholic patients with alcohol craving: a positron emission tomography study using carbon 11-labeled carfentanil. Arch. Gen. Psychiatry 62, 57-64 (2005).
26. Gorelick, D. A., Kim, Y. K., Bencherif, B., Boyd, S. J., Nelson, R., Copersino, M., et al. Imaging brain mu-opioid receptors in abstinent cocaine users: time course and relation to cocaine craving. Biol. Psychiatry 57, 1573-1582 (2005).
27. Williams, T. M., Davies, S. J., Taylor, L. G., Daglish, M. R., Hammers, A., Brooks, D. J., et al. Brain opioid receptor binding in early abstinence from alcohol dependence and relationship to craving: an [11C]diprenorphine PET study. Eur. Neuropsychopharmacol. 19, 740-748 (2009).
28. Sinclair, J. D. Evidence about the use of naltrexone and for different ways of using it in the treatment of alcoholism. Alcohol Alcohol. 36, 2-10 (2001).
29. Nielsen, C. K., Simms, J. A., Pierson, H. B., Li, R., Saini, S. K., Ananthan, S., et al. A novel delta opioid receptor antagonist, SoRI-9409, produces a selective and long-lasting decrease in ethanol consumption in heavy-drinking rats. Biol. Psychiatry 64, 974-981 (2008).
30. Shippenberg, T. S., Chefer, V. I. & Thompson, A. C. Delta-opioid receptor antagonists prevent sensitization to the conditioned rewarding effects of morphine. Biol. Psychiatry 65, 169-174 (2009).
31. Zhao, X., Tang, R., Gao, B., Shi, Y., Zhou, J., Guo, S., et al. Functional variants in the promoter region of Chitinase 3-like 1 (CHI3L1) and susceptibility to schizophrenia. Am. J. Hum. Genet. 80, 12-18 (2007).