Update on Geneqol Activities
1
Supplementary Information 2: References to Tables 1-7
REFERENCES
1. Barsevick A, Frost M, Zwinderman A, et al.: I'm so tired: biological and genetic mechanisms of cancer-related fatigue. Qual Life Res 19:1419-1427, 2010
review
2. Jun SE, Kohen R, Cain KC, et al.: TPH gene polymorphisms are associated with disease perception and quality of life in women with irritable bowel syndrome. Biol Res Nurs 16:95-104, 2014
patient sample; candidate gene study
3. Segerstrom SC, Miller GE: Psychological stress and the human immune system: a meta-analytic study of 30 years of inquiry. Psychol Bull 130:601-630, 2004
meta-analysis
4. Schroecksnadel K, Fiegl M, Prassl K, et al.: Diminished quality of life in patients with cancer correlates with tryptophan degradation. J Cancer Res Clin Oncol 133:477-485, 2007
patient sample; biomolecular marker
5. Platten M, Wick W, Van den Eynde BJ: Tryptophan catabolism in cancer: beyond IDO and tryptophan depletion. Cancer Res 72:5435-5440, 2012
review
6. Fernandez-de-Las-Penas C, Cantarero-Villanueva I, Fernandez-Lao C, et al.: Influence of catechol-o-methyltransferase genotype (Val158Met) on endocrine, sympathetic nervous and mucosal immune systems in breast cancer survivors. Breast 21:199-203, 2012
patient sample; candidate gene study (saliva)
7. Lim J, Ebstein R, Tse CY, et al.: Dopaminergic polymorphisms associated with time-on-task declines and fatigue in the Psychomotor Vigilance Test. PLoS One 7:e33767, 2012
healthy individuals; candidate gene study (saliva)
8. Sloan JA, Shi Q, Lee A, et al.: Relationship between genetic markers and quality of life (QOL) in stage III colon cancer (CC) patients (pts) prior to adjuvant treatment. J Clin Oncol 30:3617, 2012
patient sample; candidate gene study
9. Sloan JA, de AM, Decker P, et al.: Genetic variations and patient-reported quality of life among patients with lung cancer. J Clin Oncol 30:1699-1704, 2012
patient sample; candidate gene study; replication with split sample
10. Sloan JA, McCleod H, Sargent D, et al.: Preliminary evidence of relationship between genetic markers and oncology patient quality of life (QOL). J Clin Oncol 22:5, 2004
11. Clement K, Langin D: Regulation of inflammation-related genes in human adipose tissue. J Intern Med 262:422-430, 2007
review
12. Illi J, Miaskowski C, Cooper B, et al.: Association between pro- and anti-inflammatory cytokine genes and a symptom cluster of pain, fatigue, sleep disturbance, and depression. Cytokine 58:437-447, 2012
patient sample + healthy individuals; candidate gene study
13. de Raaf PJ, Sleijfer S, Lamers CH, et al.: Inflammation and fatigue dimensions in advanced cancer patients and cancer survivors: An explorative study. Cancer 118:6005-6011, 2012
patient sample; biomolecular marker
14. Meyers CA, Albitar M, Estey E: Cognitive impairment, fatigue, and cytokine levels in patients with acute myelogenous leukemia or myelodysplastic syndrome. Cancer 104:788-793, 2005
patient sample; biomolecular marker
15. Kerr JR, Burke B, Petty R, et al.: Seven genomic subtypes of chronic fatigue syndrome/myalgic encephalomyelitis: a detailed analysis of gene networks and clinical phenotypes. J Clin Pathol 61:730-739, 2008
patient sample + healthy individuals; candidate gene study
16. Collado-Hidalgo A, Bower JE, Ganz PA, et al.: Cytokine gene polymorphisms and fatigue in breast cancer survivors: early findings. Brain Behav Immun 22:1197-1200, 2008
patient population-based; candidate gene study
17. Rausch SM, Clark MM, Patten C, et al.: Relationship between cytokine gene single nucleotide polymorphisms and symptom burden and quality of life in lung cancer survivors. Cancer 116:4103-4113, 2010
patient sample; candidate gene study
18. Miaskowski C, Dodd M, Lee K, et al.: Preliminary evidence of an association between a functional interleukin-6 polymorphism and fatigue and sleep disturbance in oncology patients and their family caregivers. J Pain Symptom Manage 40:531-544, 2010
patient sample + healthy individuals; candidate gene study
19. Ahlberg K, Ekman T, Gaston-Johansson F: Levels of fatigue compared to levels of cytokines and hemoglobin during pelvic radiotherapy: a pilot study. Biol Res Nurs 5:203-210, 2004
patient sample; biomolecular marker
20. Aouizerat BE, Dodd M, Lee K, et al.: Preliminary evidence of a genetic association between tumor necrosis factor alpha and the severity of sleep disturbance and morning fatigue. Biol Res Nurs 11:27-41, 2009
patient sample + healthy individuals; candidate gene study
21. Aspler AL, Bolshin C, Vernon SD, et al.: Evidence of inflammatory immune signaling in chronic fatigue syndrome: A pilot study of gene expression in peripheral blood. Behav Brain Funct 4:44, 2008
population-based; candidate gene study
22. Wang XS, Williams LA, Krishnan S, et al.: Serum sTNF-R1, IL-6, and the development of fatigue in patients with gastrointestinal cancer undergoing chemoradiation therapy. Brain Behav Immun 26:699-705, 2012
patient sample
23. Saligan LN, Kim HS: A systematic review of the association between immunogenomic markers and cancer-related fatigue. Brain Behav Immun 26:830-848, 2012
review
24. Bower JE, Ganz PA, Irwin MR, et al.: Cytokine genetic variations and fatigue among patients with breast cancer. J Clin Oncol 31:1656-1661, 2013
population-based; candidate gene study
25. Schubert C, Hong S, Natarajan L, et al.: The association between fatigue and inflammatory marker levels in cancer patients: a quantitative review. Brain Behav Immun 21:413-427, 2007
review
26. Piraino B, Vollmer-Conna U, Lloyd AR: Genetic associations of fatigue and other symptom domains of the acute sickness response to infection. Brain Behav Immun 26:552-558, 2012
patient sample; candidate gene study
27. Schoormans D, Radonic T, de WP, et al.: Mental quality of life is related to a cytokine genetic pathway. PLoS One 7:e45126, 2012
patient sample; genome-wide gene expression study (skin biopsies and peripheral blood)
28. Rich TA: Symptom clusters in cancer patients and their relation to EGFR ligand modulation of the circadian axis. J Support Oncol 5:167-174, 2007
review
29. Bower JE, Ganz PA, Aziz N: Altered cortisol response to psychologic stress in breast cancer survivors with persistent fatigue. Psychosom Med 67:277-280, 2005
patient sample; biomolecular marker (saliva)
30. Posener JA, Schildkraut JJ, Samson JA, et al.: Diurnal variation of plasma cortisol and homovanillic acid in healthy subjects. Psychoneuroendocrinology 21:33-38, 1996
healthy individuals; biomolecular marker
31. Thornton LM, Andersen BL, Blakely WP: The pain, depression, and fatigue symptom cluster in advanced breast cancer: covariation with the hypothalamic-pituitary-adrenal axis and the sympathetic nervous system. Health Psychol 29:333-337, 2010
patient sample; biomolecular marker
32. von Schantz M: Phenotypic effects of genetic variability in human clock genes on circadian and sleep parameters. J Genet 87:513-519, 2008
review
33. Piggins HD: Human clock genes. Ann Med 34:394-400, 2002
review
34. Viola AU, Archer SN, James LM, et al.: PER3 polymorphism predicts sleep structure and waking performance. Curr Biol 17:613-618, 2007
healthy individuals; candidate gene study
35. Antypa N, Mandelli L, Nearchou FA, et al.: The 3111T/C polymorphism interacts with stressful life events to influence patterns of sleep in females. Chronobiol Int 29:891-897, 2012
patient sample; candidate gene study (mouthwash sample)
36. Utge SJ, Soronen P, Loukola A, et al.: Systematic analysis of circadian genes in a population-based sample reveals association of TIMELESS with depression and sleep disturbance. PLoS One 5:e9259, 2010
population-based; candidate gene study; replication with independent sample
37. Ryan JL, Carroll JK, Ryan EP, et al.: Mechanisms of cancer-related fatigue. Oncologist 12 Suppl 1:22-34, 2007
review
38. Agteresch HJ, Dagnelie PC, van der Gaast A, et al.: Randomized clinical trial of adenosine 5'-triphosphate in patients with advanced non-small-cell lung cancer. J Natl Cancer Inst 92:321-328, 2000
patient sample; RCT; infusion of ATP
39. Seruga B, Zhang H, Bernstein LJ, et al.: Cytokines and their relationship to the symptoms and outcome of cancer. Nat Rev Cancer 8:887-899, 2008
review
40. Shi Q, Cleeland CS, Klepstad P, et al.: Biological pathways and genetic variables involved in pain. Qual Life Res 19:1407-1417, 2010
review
41. Fernandez-de-Las-Penas C, Fernandez-Lao C, Cantarero-Villanueva I, et al.: Catechol-O-methyltransferase genotype (Val158met) modulates cancer-related fatigue and pain sensitivity in breast cancer survivors. Breast Cancer Res Treat 133:405-412, 2012
patient sample; candidate gene study (saliva)
42. Jensen KB, Lonsdorf TB, Schalling M, et al.: Increased sensitivity to thermal pain following a single opiate dose is influenced by the COMT val(158)met polymorphism. PLoS One 4:e6016, 2009
healthy individuals; candidate gene study
43. Diatchenko L, Slade GD, Nackley AG, et al.: Genetic basis for individual variations in pain perception and the development of a chronic pain condition. Hum Mol Genet 14:135-143, 2005
healthy individuals; candidate gene study
44. Hagen K, Pettersen E, Stovner LJ, et al.: The association between headache and Val158Met polymorphism in the catechol-O-methyltransferase gene: the HUNT Study. J Headache Pain 7:70-74, 2006
population-based; candidate gene study
45. Vargas-Alarcon G, Fragoso JM, Cruz-Robles D, et al.: Catechol-O-methyltransferase gene haplotypes in Mexican and Spanish patients with fibromyalgia. Arthritis Res Ther 9:R110, 2007
patient sample + matched healthy individuals; candidate gene study
46. Meloto CB, Serrano PO, Ribeiro-DaSilva MC, et al.: Genomics and the new perspectives for temporomandibular disorders. Arch Oral Biol 56:1181-1191, 2011
review
47. Fijal B, Perlis RH, Heinloth AN, et al.: The association of single nucleotide polymorphisms in the catechol-O-methyltransferase gene and pain scores in female patients with major depressive disorder. J Pain 11:910-5, 915, 2010
patient sample; candidate gene study
48. van Meurs JB, Uitterlinden AG, Stolk L, et al.: A functional polymorphism in the catechol-O-methyltransferase gene is associated with osteoarthritis-related pain. Arthritis Rheum 60:628-629, 2009
population-based; candidate gene study
49. Holliday KL, Nicholl BI, Macfarlane GJ, et al.: Genetic variation in the hypothalamic-pituitary-adrenal stress axis influences susceptibility to musculoskeletal pain: results from the EPIFUND study. Ann Rheum Dis 69:556-560, 2010
population-based; candidate gene (buccal swab)
50. Finan PH, Zautra AJ, Davis MC, et al.: Genetic influences on the dynamics of pain and affect in fibromyalgia. Health Psychol 29:134-142, 2010
patient sample, candidate gene study (buccal swab)
51. Herken H, Erdal E, Mutlu N, et al.: Possible association of temporomandibular joint pain and dysfunction with a polymorphism in the serotonin transporter gene. Am J Orthod Dentofacial Orthop 120:308-313, 2001
patient sample + healthy individuals; candidate gene study
52. Kim H, Lee H, Rowan J, et al.: Genetic polymorphisms in monoamine neurotransmitter systems show only weak association with acute post-surgical pain in humans. Mol Pain 2:24, 2006
patient sample; candidate gene study
53. Ruano G, Thompson PD, Windemuth A, et al.: Physiogenomic association of statin-related myalgia to serotonin receptors. Muscle Nerve 36:329-335, 2007
patient sample; candidate gene study
54. Lindstedt F, Lonsdorf TB, Schalling M, et al.: Perception of thermal pain and the thermal grill illusion is associated with polymorphisms in the serotonin transporter gene. PLoS One 6:e17752, 2011
healthy individuals; candidate gene study (whole blood or saliva)
55. Ortega-Hernandez OD, Cuccia M, Bozzini S, et al.: Autoantibodies, polymorphisms in the serotonin pathway, and human leukocyte antigen class II alleles in chronic fatigue syndrome: are they associated with age at onset and specific symptoms? Ann N Y Acad Sci 1173:589-599, 2009
patient sample; candidate gene study
56. Lindstedt F, Karshikoff B, Schalling M, et al.: Serotonin-1A receptor polymorphism (rs6295) associated with thermal pain perception. PLoS One 7:e43221, 2012
healthy individuals; candidate gene study
57. Combadiere C, Godin O, Vidal C, et al.: Common CX3CR1 alleles are associated with a reduced risk of headaches. Headache 48:1061-1066, 2008
population-based; candidate gene study
58. Shabalina SA, Zaykin DV, Gris P, et al.: Expansion of the human mu-opioid receptor gene architecture: novel functional variants. Hum Mol Genet 18:1037-1051, 2009
healthy individuals; candidate gene study
59. Dabby R, Sadeh M, Gilad R, et al.: Chronic non-paroxysmal neuropathic pain - Novel phenotype of mutation in the sodium channel SCN9A gene. J Neurol Sci 301:90-92, 2011
patient sample; candidate gene study
60. Reimann F, Cox JJ, Belfer I, et al.: Pain perception is altered by a nucleotide polymorphism in SCN9A. Proc Natl Acad Sci U S A 107:5148-5153, 2010
patient sample; candidate gene study; replication with external cohort
61. Guo TM, Liu M, Zhang YG, et al.: Association between Caspase-9 promoter region polymorphisms and discogenic low back pain. Connect Tissue Res 52:133-138, 2011
patient sample + matched healthy individuals; candidate gene study
62. Loggia ML, Bushnell MC, Tetreault M, et al.: Carriers of recessive WNK1/HSN2 mutations for hereditary sensory and autonomic neuropathy type 2 (HSAN2) are more sensitive to thermal stimuli. J Neurosci 29:2162-2166, 2009
patient sample + healthy individuals; candidate gene study
63. Ingle JN, Schaid DJ, Goss PE, et al.: Genome-wide associations and functional genomic studies of musculoskeletal adverse events in women receiving aromatase inhibitors. J Clin Oncol 28:4674-4682, 2010
patient sample; GWAS
64. Lettre G, Sankaran VG, Bezerra MA, et al.: DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. Proc Natl Acad Sci U S A 105:11869-11874, 2008
patient sample; candidate gene study; replication with external cohort
65. Glueck CJ, McMahon RE, Bouquot JE, et al.: T-786C polymorphism of the endothelial nitric oxide synthase gene and neuralgia-inducing cavitational osteonecrosis of the jaws. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 109:548-553, 2010
patient sample + matched healthy individuals; candidate gene study
66. Presciuttini S, Curcio M, Chillemi R, et al.: Promoter polymorphisms of the NOS3 gene are associated with hypnotizability-dependent vascular response to nociceptive stimulation. Neurosci Lett 467:252-255, 2009
healthy individuals; candidate gene study
67. Doehring A, Antoniades C, Channon KM, et al.: Clinical genetics of functionally mild non-coding GTP cyclohydrolase 1 (GCH1) polymorphisms modulating pain and cardiovascular risk. Mutat Res 659:195-201, 2008
review
68. Peters MJ, Broer L, Willemen HL, et al.: Genome-wide association study meta-analysis of chronic widespread pain: evidence for involvement of the 5p15.2 region. Ann Rheum Dis 72:427-436, 2013
population-based; GWAS; meta-analyses; replication with external cohorts
69. Rakvag TT, Klepstad P, Baar C, et al.: The Val158Met polymorphism of the human catechol-O-methyltransferase (COMT) gene may influence morphine requirements in cancer pain patients. Pain 116:73-78, 2005
patient sample; candidate gene study
70. Rakvag TT, Ross JR, Sato H, et al.: Genetic variation in the catechol-O-methyltransferase (COMT) gene and morphine requirements in cancer patients with pain. Mol Pain 4:64, 2008
patient sample; candidate gene study
71. Ross JR, Riley J, Taegetmeyer AB, et al.: Genetic variation and response to morphine in cancer patients: catechol-O-methyltransferase and multidrug resistance-1 gene polymorphisms are associated with central side effects. Cancer 112:1390-1403, 2008
patient sample; candidate gene study
72. Nishizawa D, Fukuda K, Kasai S, et al.: Genome-wide association study identifies a potent locus associated with human opioid sensitivity. Mol Psychiatry, 2012
healthy individuals; GWAS; replication analyses with external cohorts
73. Kosek E, Jensen KB, Lonsdorf TB, et al.: Genetic variation in the serotonin transporter gene (5-HTTLPR, rs25531) influences the analgesic response to the short acting opioid Remifentanil in humans. Mol Pain 5:37, 2009
healthy individuals; candidate gene study
74. Reyes-Gibby CC, El OB, Spitz MR, et al.: The influence of tumor necrosis factor-alpha -308 G/A and IL-6 -174 G/C on pain and analgesia response in lung cancer patients receiving supportive care. Cancer Epidemiol Biomarkers Prev 17:3262-3267, 2008
patient sample; candidate gene study
75. Bessler H, Shavit Y, Mayburd E, et al.: Postoperative pain, morphine consumption, and genetic polymorphism of IL-1beta and IL-1 receptor antagonist. Neurosci Lett 404:154-158, 2006
patient sample; candidate gene study
76. Chou WY, Wang CH, Liu PH, et al.: Human opioid receptor A118G polymorphism affects intravenous patient-controlled analgesia morphine consumption after total abdominal hysterectomy. Anesthesiology 105:334-337, 2006
patient sample; candidate gene study
77. Klepstad P, Rakvag TT, Kaasa S, et al.: The 118 A > G polymorphism in the human mu-opioid receptor gene may increase morphine requirements in patients with pain caused by malignant disease. Acta Anaesthesiol Scand 48:1232-1239, 2004
patient sample; candidate gene study
78. Landau R, Kern C, Columb MO, et al.: Genetic variability of the mu-opioid receptor influences intrathecal fentanyl analgesia requirements in laboring women. Pain 139:5-14, 2008
patient sample; candidate gene study
79. Sia AT, Lim Y, Lim EC, et al.: A118G single nucleotide polymorphism of human mu-opioid receptor gene influences pain perception and patient-controlled intravenous morphine consumption after intrathecal morphine for postcesarean analgesia. Anesthesiology 109:520-526, 2008
patient sample; candidate gene study
80. Oertel BG, Kettner M, Scholich K, et al.: A common human micro-opioid receptor genetic variant diminishes the receptor signaling efficacy in brain regions processing the sensory information of pain. J Biol Chem 284:6530-6535, 2009
healthy individuals (autopsy); candidate gene study
81. Zhang W, Chang YZ, Kan QC, et al.: CYP3A4*1G genetic polymorphism influences CYP3A activity and response to fentanyl in Chinese gynecologic patients. Eur J Clin Pharmacol 66:61-66, 2010
patient sample; candidate gene study
82. Galvan A, Skorpen F, Klepstad P, et al.: Multiple loci modulate opioid therapy response for cancer pain. Clin Cancer Res 17:4581-4587, 2011
clinical sample; GWAS
83. Campa D, Gioia A, Tomei A, et al.: Association of ABCB1/MDR1 and OPRM1 gene polymorphisms with morphine pain relief. Clin Pharmacol Ther 83:559-566, 2008
patient sample; candidate gene study
84. Coller JK, Barratt DT, Dahlen K, et al.: ABCB1 genetic variability and methadone dosage requirements in opioid-dependent individuals. Clin Pharmacol Ther 80:682-690, 2006
patient sample; candidate gene study
85. Crettol S, Deglon JJ, Besson J, et al.: ABCB1 and cytochrome P450 genotypes and phenotypes: influence on methadone plasma levels and response to treatment. Clin Pharmacol Ther 80:668-681, 2006
patient sample; candidate gene study
86. Klepstad P, Dale O, Skorpen F, et al.: Genetic variability and clinical efficacy of morphine. Acta Anaesthesiol Scand 49:902-908, 2005
review
87. Park HJ, Shinn HK, Ryu SH, et al.: Genetic polymorphisms in the ABCB1 gene and the effects of fentanyl in Koreans. Clin Pharmacol Ther 81:539-546, 2007
patient sample; candidate gene study
88. Cai W, Chen B, Tao X, et al.: Correlation of genetic polymorphism of cytochrome P4502D6 with dextromethorphan oxidative metabolism in Chinese. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 17:181-184, 2000
healthy individuals; candidate gene study
89. Darbari DS, van Schaik RH, Capparelli EV, et al.: UGT2B7 promoter variant -840G>A contributes to the variability in hepatic clearance of morphine in patients with sickle cell disease. Am J Hematol 83:200-202, 2008
patient sample; candidate gene study
90. Ferrari A, Coccia CP, Bertolini A, et al.: Methadone--metabolism, pharmacokinetics and interactions. Pharmacol Res 50:551-559, 2004
review
91. Paar WD, Poche S, Gerloff J, et al.: Polymorphic CYP2D6 mediates O-demethylation of the opioid analgesic tramadol. Eur J Clin Pharmacol 53:235-239, 1997
healthy individuals; biomolecular marker (urine)
92. Pedersen RS, Damkier P, Brosen K: Tramadol as a new probe for cytochrome P450 2D6 phenotyping: a population study. Clin Pharmacol Ther 77:458-467, 2005
healthy individuals; candidate gene study
93. Pilotto A, Seripa D, Franceschi M, et al.: Genetic susceptibility to nonsteroidal anti-inflammatory drug-related gastroduodenal bleeding: role of cytochrome P450 2C9 polymorphisms. Gastroenterology 133:465-471, 2007
patient sample; candidate gene study
94. Shiran MR, Lennard MS, Iqbal MZ, et al.: Contribution of the activities of CYP3A, CYP2D6, CYP1A2 and other potential covariates to the disposition of methadone in patients undergoing methadone maintenance treatment. Br J Clin Pharmacol 67:29-37, 2009
patient sample; biomolecular marker (saliva and plasma)
95. Stamer UM, Musshoff F, Kobilay M, et al.: Concentrations of tramadol and O-desmethyltramadol enantiomers in different CYP2D6 genotypes. Clin Pharmacol Ther 82:41-47, 2007
patient sample; candidate gene study
96. Takashima T, Murase S, Iwasaki K, et al.: Evaluation of dextromethorphan metabolism using hepatocytes from CYP2D6 poor and extensive metabolizers. Drug Metab Pharmacokinet 20:177-182, 2005
in vitro human hepatocytes; candidate gene study
97. Wang G, Zhang H, He F, et al.: Effect of the CYP2D6*10 C188T polymorphism on postoperative tramadol analgesia in a Chinese population. Eur J Clin Pharmacol 62:927-931, 2006
patient sample; candidate gene study
98. Zhou SF: Polymorphism of human cytochrome P450 2D6 and its clinical significance: Part I. Clin Pharmacokinet 48:689-723, 2009
review
99. Reyes-Gibby CC, Spitz M, Wu X, et al.: Cytokine genes and pain severity in lung cancer: exploring the influence of TNF-alpha-308 G/A IL6-174G/C and IL8-251T/A. Cancer Epidemiol Biomarkers Prev 16:2745-2751, 2007
patient sample; candidate gene study
100. Guimaraes AL, Correia-Silva JF, Sa AR, et al.: Investigation of functional gene polymorphisms IL-1beta, IL-6, IL-10 and TNF-alpha in individuals with recurrent aphthous stomatitis. Arch Oral Biol 52:268-272, 2007
patient sample + healthy individuals; candidate gene study (buccal swab)
101. Oen K, Malleson PN, Cabral DA, et al.: Cytokine genotypes correlate with pain and radiologically defined joint damage in patients with juvenile rheumatoid arthritis. Rheumatology (Oxford) 44:1115-1121, 2005