Evidence that a single nucleotide polymorphism in the promoter of the G protein receptor kinase 3 gene is associated with bipolar disorder

Molecular Psychiatry

Volumn 8, Issue 5, 2003, Pages 546-557

  Barrett, T B ^a,b   Hauger, R L ^a,b   Kennedy, J L ^c   Sadovnick, A D ^d   Remick, R A ^e   Keck, P E ^f   McElroy, S L ^f   Alexander, M ^a,b   Shaw, S H ^a,g   Kelsoe, J R ^a,b,h  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b VA SAN DIEGO HEALTHCARE SYSTEM   (United States)

^c UNIVERSITY OF TORONTO   (Canada)

^d UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^e ST PAUL S HOSPITAL   (Canada)

^f UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^g ILLUMINA INC   (United States)

^h UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Bipolar disorder; Chromosome 22; Depression; G protein receptor kinases; Genetic association; Linkage disequilibrium; Mania; Receptor desensitization; SNP; Transmission disequilibrium test

Indexed keywords

G PROTEIN COUPLED RECEPTOR KINASE; G PROTEIN COUPLED RECEPTOR KINASE 3; G-PROTEIN-COUPLED RECEPTOR KINASE 3; PROTEIN SERINE THREONINE KINASE; UNCLASSIFIED DRUG;

ANIMAL; ARTICLE; BIPOLAR DISORDER; BRAIN; CHROMOSOME 22; CHROMOSOME 22Q; DEPRESSION; EXON; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETICS; GENOME; HUMAN; MANIA; MOLECULAR GENETICS; MOUSE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; RECEPTOR DOWN REGULATION; SINGLE NUCLEOTIDE POLYMORPHISM;

ANIMALS; BASE SEQUENCE; BIPOLAR DISORDER; CHROMOSOMES, HUMAN, PAIR 22; GENOME, HUMAN; HUMANS; LINKAGE DISEQUILIBRIUM; MICE; MOLECULAR SEQUENCE DATA; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS (GENETICS); PROTEIN-SERINE-THREONINE KINASES;

EID: 10744223787     PISSN: 13594184     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.mp.4001268     Document Type: Article

References (34)

1. Kendler KS, Pedersen N, Johnson L, Neale MC, Mathe AA. A pilot Swedish twin study of affective illness, including hospital- and population-ascertained subsamples. Arch Gen Psychiatry 1993; 50: 699-700.
2. Gershon ES, Hamovit J, Guroff JJ, Dibble E, Leckman JF, Sceery W et al. A family study of schizoaffective, bipolar I, bipolar II, unipolar, and normal control probands. Arch Gen Psychiatry 1982; 39: 1157-1167.
3. Rice J, Reich T, Andreasen NC, Endicott J, van Eerdewegh M, Fishman R et al. The familial transmission of bipolar illness. Arch Gen Psychiatry 1987; 44: 441-447.
4. Sadovnick AD, Remick RA, Lam R, Zis AP, Yee IM, Huggins MJ et al. A mood disorder service genetic database: morbidity risks for mood disorders in 3942 first-degree relatives of 671 index cases with single depression, recurrent depression, bipolar I or bipolar II. Am J Med Genet 1994; 54: 132-140.
5. Spence MA, Flodman PL, Sadovnick AD, Bailey-Wilson JE, Ameli H, Remick RA. Bipolar disorder: evidence for a major locus. Am J Med Genet 1995; 60: 370-376.
6. Prathikanti S, McMahon FJ. Genome scans for susceptibility genes in bipolar affective disorder. Ann Med 2001; 33: 257-262.
7. Lander E, Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 1995; 11: 241-247.
8. Badner JA, Gershon ES. Meta-analysis of whole-genome linkage scans of bipolar disorder and schizophrenia. Mol Psychiatry 2002; 7: 405-411.
9. Lachman HM, Kelsoe JR, Remick RA, Sadovnick AD, Rapaport MH, Lin M et al. Linkage studies suggest a possible locus for bipolar disorder near the velo-cardio-facial syndrome region on chromosome 22. Am J Med Genet 1997; 74: 121-128.
10. Kelsoe JR, Spence MA, Loetscher E, Foguet M, Sadovnick AD, Remick RA et al. A genome survey indicates a possible susceptibility locus for bipolar disorder on chromosome 22. Proc Natl Acad Sci USA 2001; 98: 585-590.
11. Edenberg HJ, Foroud T, Conneally PM, Sorbel JJ, Carr K, Crose C et al. Initial genomic scan of the NIMH genetics initiative bipolar pedigrees: chromosomes 3, 5, 15, 16, 17, and 22. Am J Med Genet 1997; 74: 238-246.
12. Carman CV, Benovic JL. G-protein-coupled receptors: turn-ons and turn-offs. Curr Opin Neurobiol 1998; 8: 335-344.
13. Macrae AD, Lefkowitz RJ. The function and regulation of G-protein-coupled receptor kinases. In: O'Malley BW (ed). Hormones and Signaling. Academic Press: San Diego, CA, 1998, pp 65-88.
14. Penn RB, Benovic JL. Mechanisms of receptor regulation. In: Conn PM (ed), Endocrinology Vol 1: Cellular Endocrinology. Oxford University Press: New York, 1998, pp 125-164.
15. Pitcher JA, Freedman NJ, Lefkowitz RJ. G protein-coupled receptor kinases. Annu Bev Biochem 1998; 67: 653-692.
16. Dautzenberg FM, Hauger RL. The CRF peptide family and their receptors: yet more partners discovered. Trends Pharmacol Sci 2002; 23: 71-77.
17. Arriza JL, Dawson TM, Simerly RB, Martin LJ, Caron MG, Snyder SH et al. The G-protein-coupled receptor kinases beta ARK1 and beta ARK2 are widely distributed at synapses in rat brain. J Neurosci 1992; 12: 4045-4055.
18. Erdtmann-Vourliotis M, Mayer P, Ammon S, Riechert U, Hollt V. Distribution of G-protein-coupled receptor kinase (GRK) isoforms 2, 3, 5 and 6 mRNA in the rat brain. Brain Res Mol Brain Bes 2001; 95: 129-137.
19. Tiberi M, Nash SR, Bertrand L, Lefkowitz RJ, Caron MG, Differential regulation of dopamine D1A receptor responsiveness by various G protein-coupled receptor kinases, J Biol Chem 1996; 271: 3771-3778.
20. Kim KM, Valenzano KJ, Robinson SR, Yao WD, Barak LS, Caron MG. Differential regulation of the dopamine D2 and D3 receptors by G protein-coupled receptor kinases and beta-arrestins. J Biol Chem 2001; 276: 37409-37414.
21. Dautzenberg FM, Braun S, Hauger RL. GRK3mediates homologous desensitization of the CRF1 receptor: a novel mechanism contributing to stress adaptation. Am J Physiol Regul Integr Comp Physiol 2001; 280: R935-R946.
22. Niculescu III AB, Segal DS, Kuczenski R, Barrett T, Hauger RL, Kelsoe JR. Identifying a series of candidate genes for mania and psychosis: a convergent functional genomics approach. Physiol Genomics 2000; 4: 83-91.
23. Mundo E, Zai G, Lee L, Parikh SV, Kennedy JL. The 5HT1Dbeta receptor gene in bipolar disorder: a family based association study. Neuropsychopharmacology 2001; 25: 608-613.
24. Spitzer RL, Williams JBW, Gibbon M. Structured Clinical Interview for DSM-3-R (SCID). New York State Psychiatric Institute, Biometrics Research: New York, 1987.
25. Nickerson DA, Tobe VO, Taylor SL. Polyphred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing. Nucleic Acids Res 1997; 25: 2745-2751.
26. Clayton D. A generalization of the transmission/disequilibrium test for uncertain-haplotype transmission. Am J Hum Genet 1999; 65: 1170-1177.
27. Ramos-Ruiz R, Penela P, Penn RB, Mayor Jr F. Analysis of the human G protein-coupled receptor kinase 2 (GRK2) gene promoter: regulation by signal transduction systems in aortic smooth muscle cells. Circulation 2000; 101: 2083-2089.
28. Schug J, Overton GC. Computational Biology and Informatics Laboratory, editor. TESS: Transcription Element Search Software on the WWW. School of Medicine, University of Pennsylvania: PA, 1997, CBIL-TR-1997-1001-v0.0.
29. Risch N, Merikangas K. The future of genetic studies of complex human diseases. Science 1996; 273: 1516-1517.
30. Chen WM, Deng HW. A general and accurate approach for computing the statistical power of the transmission disequilibrium test for complex disease genes. Genet Epidemiol 2001; 21: 53-67.
31. Song J, Ugai H, Kanazawa I, Sun K, Yokoyama KK. Independent repression of a GC-rich housekeeping gene by Sp1 and MAZ involves the same cis-elements. J Biol Chem 2001; 276: 19897-19904.
32. Nordhoff V, Hubner K, Bauer A, Orlova I, Malapetsa A, Scholer HR. Comparative analysis of human, bovine, and murine Oct-4 upstream promoter sequences. Mamm Genome 2001; 12: 309-317.
33. Klausner RD, Rouault TA, Harford JB. Regulating the fate of mRNA: the control of cellular iron metabolism. Cell 1993; 72: 19-28.
34. McDonald PH, Chow CW, Miller WE, Laporte SA, Field ME, Lin FT et al. Beta-arrestin 2: a receptor-regulated MAPK scaffold for the activation of JNK3. Science 2000; 290: 1574-1577.