Candidate gene studies of human pain mechanisms: Methods for optimizing choice of polymorphisms and sample size

Anesthesiology

Volumn 100, Issue 6, 2004, Pages 1562-1572

  Belfer, Inna ^a   Wu, Tianxia ^b   Kingman, Albert ^b   Krishnaraju, Raj K ^a   Goldman, David ^c   Max, Mitchell B ^a  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b NATIONAL INSTITUTE OF DENTAL AND CRANIOFACIAL RESEARCH   (United States)

^c NATIONAL INSTITUTE ON ALCOHOL ABUSE AND ALCOHOLISM   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA 2A ADRENERGIC RECEPTOR; BRADYKININ B1 RECEPTOR; BRADYKININ B2 RECEPTOR; BRAIN DERIVED GROWTH FACTOR; CALCIUM CHANNEL; CATECHOL METHYLTRANSFERASE; INDUCIBLE NITRIC OXIDE SYNTHASE; INTERLEUKIN 10; INTERLEUKIN 13; INTERLEUKIN 1BETA; INTERLEUKIN 6; KAINIC ACID RECEPTOR; MU OPIATE RECEPTOR; NEURITE PROMOTING FACTOR; NEURONAL NITRIC OXIDE SYNTHASE; PRODYNORPHIN; PROTEIN TYROSINE KINASE; SEROTONIN TRANSPORTER; TUMOR NECROSIS FACTOR ALPHA; TYROSINE 3 MONOOXYGENASE;

ALLELE; ANALGESIA; GENE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; HUMAN; HUMAN GENOME; PAIN; PHENOTYPE; PRIORITY JOURNAL; PROTO ONCOGENE; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM;

DATABASES, GENETIC; GENE FREQUENCY; GENETIC MARKERS; HUMANS; PAIN; POLYMORPHISM, GENETIC; SAMPLE SIZE;

EID: 1842774417     PISSN: 00033022     EISSN: None     Source Type: Journal    
DOI: 10.1097/00000542-200406000-00032     Document Type: Review

References (57)

1. Lander ES: The new genomics: Global views of biology. Science 1996; 274:536-9
2. Mogil JS, Wilson SG, Bon K, Lee SE, Chung K, Raber P, Pieper JO, Hain HS, Belknap JK, Hubert L, Elmer GI, Chung JM, Devor M: Heritability of nociception: I. Responses of 11 inbred mouse strains on 12 measures of nociception. Pain 1999; 80:67-82
3. Lariviere WR, Wilson SG, Laughlin TM, Kokayeff A, West EE, Adhikari SM, Wan Y, Mogil JS: Heritability of nociception: III. Genetic relationships among commonly used assays of nociception and hypersensitivity. Pain 2002; 97:75-86
4. Seltzer Z, Wu T, Max MB, Diehl SR: Mapping a gene for neuropathic pain-related behavior following peripheral neurectomy in the mouse. Pain 2001; 93:101-6
5. Nagasako EM, Oaklander AL, Dworkin RH: Congenital insensitivity to pain: An update. Pain 2003; 101:213-9
6. Carrera P, Stenirri S, Ferrari M, Battistini S: Familial hemiplegic migraine: An ion channel disorder. Brain Res Bull 2001; 56:239-41
7. Lohmueller KE, Pearce CL, Pike M, Lander ES, Hirschhorn JN: Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat Genet 2003; 33:177-82
8. Risch N, Merikangas K: The future of genetic studies of complex human diseases. Science 1996; 273:1516-7
9. Atlas SJ, Deyo RA, Keller RB, Chapin AM, Patrick DL, Long JM, Singer DE: The Maine Lumbar Spine Study: II. 1-Year outcomes of surgical and nonsurgical management of sciatica. Spine 1996; 21:1777-86
10. Dworkin RH, Nagasako EM, Johnson RW, Griffin DR: Acute pain in herpes zoster: The Famciclovir Database Project. Pain 2001; 94:113-9
11. Houde RW, Wallenstein SI, Beaver WT: Clinical measurement of pain, Analgetics. Edited by de Stevens G. New York, Academic Press, 1965, pp 75-122
12. Max MB, Portenoy RK, Laska EM, eds. The Design of Analgesic Clinical Trials. Advances in Pain Research and Therapy. Vol. 18. New York, Raven Press, 1991, pp 1-605
13. Botstein D, Risch N: Discovering genotypes underlying human phenotypes: Past successes for Mendelian disease, future approaches for complex disease. Nat Genetics Suppl 2003; 33:228-37
14. Zubieta JK, Heitzeg MM, Smith YR, Bueller JA, Xu K, Xu Y, Koeppe RA, Stohler CS, Goldman D: COMT val158met genotype affects mu-opioid neurotransmitter responses to a pain stressor. Science 2003; 299:1240-3
15. Wall PD, Melzack R, eds. Textbook of Pain, 4th edition. Edinburgh, Churchill Livingstone, 1999, pp 11-182, 253-330
16. Woolf CJ, Salter MW: Neuronal plasticity: Increasing the gain in pain. Science 288:1765-9, 2000
17. Wood JN, Perl ER: Pain. Curr Opin Genet Dev 1999; 9:328-32
18. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M, Liu-Cordero SN, Rotimi C, Adeyemo A, Cooper R, Ward R, Lander ES, Daly MJ, Altshuler D: The structure of haplotype blocks in the human genome. Science 2002; 296:2225-9
19. Risch N, Zhang H: Extreme discordant sib pairs for mapping quantitative trait loci in humans. Science 1995; 268:1584-9
20. Fleiss J: Statistical Methods for Rates and Proportions, 2nd edition. New York, Wiley, 1981, pp 44-5
21. Fishman D, Faulds G, Jeffery R, Mohamed-Ali V, Yudkin JS, Humphries S, Woo P: The effect of novel polymorphisms in the interleukin-6 (IL-6) gene on IL-6 transcription and plasma IL-6 levels, and an association with systemic-onset juvenile chronic arthritis. J Clin Invest 1998; 102:1369-76
22. Grasemann H, Knauer N, Buscher R, Hubner K, Drazen JM, Ratjen F: Airway nitric oxide levels in cystic fibrosis patients are related to a polymorphism in the neuronal nitric oxide synthase gene. Am J Respir Crit Care Med 2000; 162:2172-6
23. Nemetz A, Toth M, Garcia-Gonzalez MA, Zagoni T, Feher J, Pena AS, Tulassay Z: Allelic variation at the interleukin 1beta gene is associated with decreased bone mass in patients with inflammatory bowel diseases. Gut 2001; 49:644-9
24. O'Keefe GE, Hybki DC, Munford RS: The G→: A single nucleotide polymorphism at the -308 position in the tumor necrosis-alpha promoter increases the risk for severe sepsis after trauma. J Trauma 2002; 52:817-25
25. Neumeister A, Konstantinidis A, Stastny J, Schwarz MJ, Vitouch O, Willeit M, Praschak-Rieder N, Zach J, de Zwaan M, Bondy B, Ackenheil M, Kasper S: Association between serotonin transporter gene promoter polymorphism (5HT-TLPR) and behavioral responses to tryptophan depletion in healthy women with and without family history of depression. Arch Gen Psychiatry 2002; 59:613-20
26. Lee K, Kunugi H, Nanko S: Glial cell line-derived neurotrophic factor (GDNF) gene and schizophrenia: Polymorphism screening and association analysis. Psychiatry Res 2001; 104:11-7
27. Mukae S, Aoki S, Itoh S, Iwata T, Ueda H, Katagiri T: Bradykinin B(2) receptor gene polymorphism is associated with angiotensin-converting enzyme inhibitor-related cough. Hypertension 2000; 36:127-31
28. Egan MF, Goldberg TE, Kolachana BS, Callicott JH, Mazzanti CM, Straub RE, Goldman D, Weinberger DR: Effect of COMT Val108/158 Met genotype on frontal lobe function and risk for schizophrenia. Proc Natl Acad Sci U S A 2001; 98:6917-22
29. Xu W, Liu L, Emson P, Harrington CR, McKeith IG, Perry RH, Morris CM, Charles IG: The CCTTT polymorphism in the NOS2A gene is associated with dementia with Lewy bodies. Neuroreport 2000; 58:154-6
30. Chen AC, LaForge KS, Ho A, McHugh PF, Kellogg S, Bell K, Schluger RP, Leal SM, Kreek MJ: Potentially functional polymorphism in the promoter region of prodynorphin gene may be associated with protection against cocaine dependence or abuse. Am J Med Genet 2002; 114:429-35
31. Sander T, Berlin W, Gscheidel N, Wendel B, Janz D, Hoehe MR: Genetic variation of the human mu-opioid receptor and susceptibility to idiopathic absence epilepsy. Epilepsy Res 2000; 39:57-61
32. Suarez A, Castro P, Alonso R, Mozo L, Gutierrez C: Interindividual variations in constitutive interleukin-10 messenger RNA and protein levels and their association with genetic polymorphisms. Transplantation 2003; 15:7117
33. Zychma MJ, Gumprecht J, Zukowska-Szczechowska E, Grzeszczak, W: Polymorphisms in the genes encoding for human kinin receptors and the risk of end-stage renal failure: Results of transmission/disequilibrium test. The End-Stage Renal Disease Study Group. J Am Soc Nephrol 1999; 10:2120-4
34. Linhart A, Jindra A, Golan L, Jachymova M, Sedlacek K, Peleska J, Umnerova V, Bultas J, Horky K, Aschermann M: Association between tyrosine hydroxylase polymorphisms and left ventricular structure in young normotensive men. J Biomed Sci 2002; 59:90-4
35. Bounacer A, Du Villard JA, Wicker R, Caillou B, Schlumberger M, Sarasin A, Suarez HG: Association of RET codon 691 polymorphism in radiation-induced human thyroid tumours with C-cell hyperplasia in peritumoural tissue. Br J Cancer 2002; 86:1929-36
36. Begni S, Popoli M, Meraschi S, Bignotti S, Tura GB, Gennarelli M: Association between the ionotropic glutamate receptor kainate3 (GRIK3) ser310ala polymorphism and schizophrenia. Mol Psychiatry 2002; 7:416-8
37. DeMeo DL, Lange C, Silverman EK, Senter JM, Drazen JM, Barth MJ, Laird N, Weiss ST: Univariate and multivariate family-based association analysis of the IL-13 ARG130GLN polymorphism in the Childhood Asthma Management program. Genet Epidemiol 2002; 23:335-48
38. Egan MF, Kojima M, Callicott JH, Goldberg TE, Kolachana BS, Bertolino A, Zaltsev E, Gold B, Goldman D, Dean M, Lu B, Weinberger DR: The BDNF val66met polymorphism affects activity-dependent secretion of BDNF and human memory and hippocampal function. Cell 2003; 112:257-69
39. Rosmond R, Bouchard C, Bjorntorp P: A C-1291G polymorphism in the alpha2A-adrenergic receptor gene (ADRA2A) promoter is associated with cortisol escape from dexamethasone and elevated glucose levels. J Intern Med 2002; 251:252-7
40. Angeloni D, Wei MH, Duh FM, Johnson BE, Lerman MI: A G-to-A single nucleotide polymorphism in the human alpha 2 delta 2 calcium channel subunit gene that maps at chromosome 3p21.3 Mol Cell Probes 2000; 14:53-4
41. Shoskes DA, Albakri Q, Thomas K, Cook D: Cytokine polymorphisms in men with chronic prostatitis: Association with diagnosis and treatment response. J Urol 2002; 168:331-5
42. Murphy PM: Molecular mimicry and the generation of host defense protein diversity. Cell 1993; 72:823-6
43. Zeggini E, Thomson W, Kwiatkowski D, Richardson A, Ollier W, Donn R: Linkage and association studies of single-nucleotide polymorphism-tagged tumor necrosis factor haplotypes in juvenile oligoarthritis. Arthritis Rheum 2002; 46: 3304-11
44. Ferrari SL, Ahn-Luong L, Garnero P, Humphries SE, Greenspan SL: Two promoter polymorphisms regulating interleukin-6 gene expression are associated with circulating levels of C-reactive protein and markers of bone resorption in postmenopausal women. J Clin Endocrinol Metab 2003; 88:255-9
45. Carugo O, Pongor S: Recent progress in protein 3D structure comparison. Curr Protein Pept Sci 2002; 3:441-9
46. Praz V, Périer R, Bonnard C, Bucher B: The Eukaryotic Promoter Database, EPD: New entry types and links to gene expression data. Nucleic Acids Res 2002; 30:322-4
47. Ponomarenko JV, Merkulova TI, Orlova GV, Fokin ON, Gorshkova EV, Frolov AS, Valuev VP, Ponomarenko MP: rSNP_Guide, a database system for analysis of transcription factor binding to DNA with variations: Application to genome annotation. Nucleic Acids Res 2003; 31:118-21
48. Mendell JT, Dietz HC: When the message goes awry: Disease-producing mutations that influence mRNA content and performance. Cell 2001; 107:411-4
49. McCarthy JJ, Hilfiker R: The use of single-nucleotide polymorphism maps in pharmacogenomics. Nat Biotechnol 2000; 18:505-8
50. Cuthbert AP, Fisher SA, Mirza MM, King K, Hampe J, Croucher PJ, Mascheretti S, Sanderson J, Forbes A, Mansfield J, Schreiber S, Lewis CM, Mathew CG: The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease. Gastroenterology 2000; 122:867-74
51. Kukull WA, Schellenberg GD, Bowen JD, McCormick WC, Yu CE, Teri L, Thompson JD, O'Meara ES, Larson EB: Apolipoprotein E in Alzheimer's disease risk and case detection: A case-control study. J Clin Epidemiol 1996; 49:1143-8
52. Dawson EG, Kanim LE, Sra P, Dorey FJ, Goldstein TB, Delamarter RB, Sandhu HS: Low back pain recollection versus concurrent accounts: Outcomes analysis. Spine 2002; 27:984-93
53. Cardon LR, Palmer LJ: Population stratification and spurious allelic association. Lancet 2003; 361:598-604
54. Adams MD, Celniker SE, Holt RA, Evans CA, Gocayne JD, Amanatides PG, Scherer SE, Li PW, Hoskins RA, Galle RF, George RA, Lewis SE, Richards S, Ashburner M, Henderson SN, Sutton GG, Wortman JR, Yandell MD, Zhang Q, Chen LX, Brandon RC, Rogers YH, Blazej RG, Champe M, Pfeiffer BD, Wan KH, Doyle C, Baxter EG, Helt G, Nelson CR, Gabor GL, Abril JF, Agbayani A, An HJ, Andrews-Pfannkoch C, Baldwin D, Ballew RM, Basu A, Baxendale J, Bayraktaroglu L, Beasley EM, Beeson KY, Benos PV, Berman BP, Bhandari D, Bolshakov S, Borkova D, Botchan MR, Bouck J, Brokstein P, Brottier P, Burtis KC, Busam DA, Butler H, Cadieu E, Center A, Chandra I, Cherry JM, Cawley S, Dahlke C, Davenport LB, Davies P, de Pablos B, Delcher A, Deng Z, Mays AD, Dew I, Dietz SM, Dodson K, Doup LE, Downes M, Dugan-Rocha S, Dunkov BC, Dunn P, Durbin KJ, Evangelista CC, Ferraz C, Ferriera S, Fleischmann W, Fosler C, Gabrielian AE, Garg NS, Gelbart WM, Glasser K, Glodek A, Gong F, Gorrell JH, Gu Z, Guan P, Harris M, Harris NL, Harvey D, Heiman TJ, Hernandez JR, Houck J, Hostin D, Houston KA, Howland TJ, Wei MH, Ibegwam C, Jalali M, Kalush F, Karpen GH, Ke Z, Kennison JA, Ketchum KA, Kimmel BE, Kodira CD, Kraft C, Kravitz S, Kulp D, Lai Z, Lasko P, Lei Y, Levitsky AA, Li J, Li Z, Liang Y, Lin X, Liu X, Mattei B, McIntosh TC, McLeod MP, McPherson D, Merkulov G, Milshina NV, Mobarry C, Morris J, Moshrefi A, Mount SM, Moy M, Murphy B, Murphy L, Muzny DM, Nelson DL, Nelson DR, Nelson KA, Nixon K, Nusskern DR, Pacleb JM, Palazzolo M, Pittman GS, Pan S, Pollard J, Puri V, Reese MG, Reinert K, Remington K, Saunders RD, Scheeler F, Shen H, Shue BC, Siden-Kiamos I, Simpson M, Skupski MP, Smith T, Spier E, Spradling AC, Stapleton M, Strong R, Sun E, Svirskas R, Tector C, Turner R, Venter E, Wang AH, Wang X, Wang ZY, Wassarman DA, Weinstock GM, Weissenbach J, Williams SM, Woodage T, Worley KC, Wu D, Yang S, Yao QA, Ye J, Yeh RF, Zaveri JS, Zhan M, Zhang G, Zhao Q, Zheng L, Zheng XH, Zhong FN, Zhong W, Zhou X, Zhu S, Zhu X, Smith HO, Gibbs RA, Myers EW, Rubin GM, Venter JC: The sequence of the human genome. Science 2001; 291:1304-51
55. Wang H, Sun H, Della Penna K, Benz RJ, Xu J, Gerhold DL, Holder DJ, Koblan KS: Chronic neuropathic pain is accompanied by global changes in gene expression and shares pathobiology with neurodegenerative diseases. Neuroscience 2002; 114:529-46
56. Costigan M, Befort K, Karchewski L, Griffin RS, D'Urso D, Allchorne A, Sitarski J, Mannion JW, Pratt RE, Woolf CJ: Replicate high-density rat genome oligonucleotide microarrays reveal hundreds of regulated genes in the dorsal root ganglion after peripheral nerve injury. BMC Neurosci 2002; 3:16
57. Yang HY, Wilkening S, Iadarola MJ: Spinal cord genes enriched in rat dorsal horn and induced by noxious stimulation identified by subtraction cloning and differential hybridization. Neuroscience 2001; 103:493-502