The Cannabinoid Receptor type 2 Q63R variant increases the risk of celiac disease: Implication for a novel molecular biomarker and future therapeutic intervention

Pharmacological Research

Volumn 66, Issue 1, 2012, Pages 88-94

  Rossi, Francesca ^a   Bellini, Giulia ^a   Tolone, Carlo ^a,b   Luongo, Livio ^a   Mancusi, Silvia ^a   Papparella, Alfonso ^a   Sturgeon, Craig ^c   Fasano, Alessio ^c   Nobili, Bruno ^a   Perrone, Laura ^a   Maione, Sabatino ^a   Miraglia Del Giudice, Emanuele ^a  

^a SECOND UNIVERSITY OF NAPLES   (Italy)

^b Regional Center for Celiac Disease Diagnosis and Therapy   (Italy)

^c UNIVERSITY OF MARYLAND   (United States)

Author keywords

Endocannabinoid system; Gliadin; Immune system; Inflammation; Pharmacogenetics

Indexed keywords

ARGININE; CANNABINOID 2 RECEPTOR; GLUTAMINE;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; CANNABINOID RECEPTOR TYPE 2 GENE; CASE CONTROL STUDY; CD4+ T LYMPHOCYTE; CELIAC DISEASE; CHILD; CODON; CONTROLLED STUDY; DISEASE PREDISPOSITION; FEMALE; GENE; GENOTYPE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INTESTINE BIOPSY; MAJOR CLINICAL STUDY; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; RISK FACTOR; SCHOOL CHILD; UPREGULATION; WESTERN BLOTTING;

ADOLESCENT; ANALYSIS OF VARIANCE; BIOPSY; CASE-CONTROL STUDIES; CD4 LYMPHOCYTE COUNT; CELIAC DISEASE; CHI-SQUARE DISTRIBUTION; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT; INTESTINE, SMALL; ITALY; MALE; MUTATION, MISSENSE; ODDS RATIO; PHENOTYPE; REAL-TIME POLYMERASE CHAIN REACTION; RECEPTOR, CANNABINOID, CB2; RISK ASSESSMENT; RISK FACTORS;

EID: 84860478400     PISSN: 10436618     EISSN: 10961186     Source Type: Journal    
DOI: 10.1016/j.phrs.2012.03.011     Document Type: Article

References (49)

1. A. Alaedini, and P.H. Green Narrative review: celiac disease: understanding a complex autoimmune disorder Ann Intern Med 142 2005 289 298 (Pubitemid 40216246)
2. R.J. Farrell, and C. Kelly Diagnosis of celiac sprue Am J Gastroenterol 96 2001 3237 3246 (Pubitemid 34016643)
3. M.N. Marsh Gluten, major histocompatibility complex, and the small intestine. A molecular and immunobiologic approach to the spectrum of gluten sensitivity (celiac sprue) Gastroenterology 102 1992 330 354
4. L.M. Sollid Coeliac disease: dissecting a complex inflammatory disorder Nat Rev Immunol 2 2002 647 655 (Pubitemid 37328722)
5. D. Schuppan Current concepts of celiac disease pathogenesis Gastroenterology 119 2002 234 242
6. D.A. van Heel, K. Hunt, L. Greco, and C. Wijmenga Genetics in celiac disease Best Pract Res Clin Gastroenterol 19 2002 323 339
7. N. Soranzo, T.D. Spector, M. Mangino, B. Kühnel, A. Rendon, and A. Teumer A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium Nat Genet 41 2009 1182 1190
8. C.P. Garner, J.A. Murray, Y.C. Ding, Z. Tien, D.A. van Heel, and S.L. Neuhausen Replication of celiac disease UK genome-wide association study results in a US population Hum Mol Genet 18 2009 4219 4225
9. G. Trynka, A. Zhernakova, J. Romanos, L. Franke, K.A. Hunt, and G. Turner Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling Gut 58 2009 1078 1083
10. J. Romanos, D. Barisani, and G. Trynka Six new coeliac disease loci replicated in an Italian population confirm association with coeliac disease J Med Genet 46 2009 60 63
11. S. Adamovic, S.S. Amundsen, B.A. Lie, A.H. Gudjónsdóttir, H. Ascher, and J. Ek Association study of IL2/IL21 and FcgRIIa: significant association with the IL2/IL21 region in Scandinavian celiac disease families Genes Immun 9 2008 364 367 (Pubitemid 351795051)
12. K.A. Hunt, A. Zhernakova, G. Turner, G.A. Heap, L. Franke, and M. Bruinenberg Newly identified genetic risk variants for celiac disease related to the immune response Nat Genet 40 2008 395 402 (Pubitemid 351450876)
13. D.A. van Heel, L. Franke, K.A. Hunt, R. Gwilliam, A. Zhernakova, and M. Inouye A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21 Nat Genet 39 2007 827 829 (Pubitemid 47014494)
14. M.J. Van Belzen, J.W. Meijer, L.A. Sandkuijl, A.F. Bardoel, C.J. Mulder, and P.L. Pearson A major non-HLA locus in celiac disease maps to chromosome 19 Gastroenterology 125 2003 1032 1041 (Pubitemid 37193450)
15. R.G. Pertwee, and R.A. Ross Cannabinoid receptors and their ligands Prostaglandins Leukot Essent Fatty Acids 66 2002 101 121 (Pubitemid 34743589)
16. R.G. Pertwee Pharmacology of endocannabinoid CB1 and CB2 receptors Pharmacol Ther 74 1997 129 180 (Pubitemid 27337346)
17. G.A. Cabral, and L. Griffin-Thomas Emerging role of the cannabinoid receptor CB2 in immune regulation: therapeutic prospects for neuroinflammation Expert Rev Mol Med 11 2009 e3
18. L. Luongo, E. Palazzo, S. Tambaro, C. Giordano, L. Gatta, and M.A. Scafuro 1-(2′,4′-Dichlorophenyl)-6-methyl-Ncyclohexylamine-1,4- dihydroindeno[1,2-c] pyrazole-3 carboxamide, a novel CB2 agonist, alleviates neuropathic pain through functional microglial changes in mice Neurobiol Dis 37 2010 177 185
19. A.C. Herring, W.S. Koh, and N.E. Kaminski Inhibition of the cyclic AMP signaling cascade and nuclear factor binding to CRE and kappaB elements by cannabinol, a minimally CNS-active cannabinoid Biochem Pharmacol 55 1998 1013 1023 (Pubitemid 28167723)
20. E. Molina-Holgado, J.M. Vela, and A. Arévalo-Martìn Cannabinoids promote oligodendrocyte progenitor survival: involvement of cannabinoid receptors and phosphatidylinositol-3 kinase/Akt signaling J Neurosci 22 2002 9742 9753 (Pubitemid 35332857)
21. V. Di Marzo, and D.G. Deutsch Biochemistry of the endogenous ligands of cannabinoid receptors Neurobiol Dis 5 1998 386 404 (Pubitemid 29075840)
22. M.T. Cencioni, V. Chiurchiù, G. Catanzaro, G. Borsellino, G. Bernardi, and L. Battistini Anandamide suppresses proliferation and cytokine release from primary human T-lymphocytes mainly via CB2 receptors PLoS One 5 2010 e8688
23. S. Munro, K.L. Thomas, and M. Abu-Shaar Molecular characterization of a peripheral receptor for cannabinoids Nature 365 1993 61 65 (Pubitemid 23305569)
24. S. Galiègue, S. Mary, J. Marchand, D. Dussossoy, D. Carrière, and P. Carayon Expression of central and peripheral cannabinoid receptors in human immune tissues and leukocyte subpopulations Eur J Biochem 232 1995 54 61
25. K. Osawa, N. Takami, K. Shiozawa, A. Hashiramoto, and S. Shiozawa Death receptor 3 (DR3) gene duplication in a chromosome region 1p36.3: gene duplication is more prevalent in rheumatoid arthritis Genes Immun 5 2004 439 443 (Pubitemid 39263880)
26. R. Shai, F.P. Quismorio Jr., L. Li, O.J. Kwon, J. Morrison, and D.J. Wallace Genome wide screen for systemic lupus erythemathosus susceptibility in multiplex families Hum Mol Genet 8 1999 639 644 (Pubitemid 29139978)
27. M. Nishimura, H. Obayashi, I. Mizuta, H. Hara, T. Adachi, and M. Ohta TNF, TNF receptor type 1, and allograft inflammatory factor-1 gene polymorphisms in Japanese patients with type 1 Diab Hum Immunol 64 2003 302 309 (Pubitemid 36197360)
28. J. Liu, S.H. Juo, P. Holopainen, J. Terwilliger, X. Tong, and A. Grunn Genomewide linkage analysis of celiac in Finnish families Am J Hum Genet 70 2002 51 59 (Pubitemid 34031697)
29. A.V. Halpern, A. Bansal, and W.R. Heymann Pemphigus vulgaris in a patient with 1p36 deletion syndrome J Am Acad Dermatol 55 2005 98 99
30. F. Rossi, S. Mancusi, G. Bellini, D. Roberti, F. Punzo, and S. Vetrella CNR2 functional variant (Q63R) influences childhood immune thrombocytopenic purpura Haematologica 96 2011 1883 1885
31. E.S. Onaivi, H. Ishiguro, J.P. Gong, S. Patel, P.A. Meozzi, and L. Myers Functional expression of brain neuronal CB2 cannabinoid receptors are involved in the effects of drugs of abuse and in depression Ann NY Acad Sci 1139 2008 434 439
32. S.A. Rieder, A. Chauhan, U. Singh, M. Nagarkatti, and P. Nagarkatti Cannabinoid-induced apoptosis in immune cells as a pathway to immunosuppression Immunobiology 8 2010 598 605
33. C. Börner, M. Smida, V. Höllt, B. Schraven, and J. Kraus Cannabinoid receptor type 1- and 2-mediated increase in cyclic AMP inhibits T cell receptor-triggered signaling J Biol Chem 284 2009 35450 35460
34. J. Tschop, K.R. Kasten, R. Nogueiras, H.S. Goetzman, C.M. Cave, and L.G. England The cannabinoid receptor 2 is critical for the host response to sepsis Immunol 183 2009 499 505
35. F. Correa, L. Mestre, F. Docagne, and C. Guaza Activation of cannabinoid CB2 receptor negatively regulates IL-12p40 production in murine macrophages: role of IL-10 and ERK1/2 kinase signaling Br J Pharmacol 145 2005 441 448 (Pubitemid 40966273)
36. L. Maiuri, C. Ciacci, I. Ricciardelli, L. Vacca, V. Raia, and S. Auricchio Association between innate response to gliadin and activation of pathogenic T cells in coeliac disease Lancet 362 2003 30 37 (Pubitemid 36835817)
37. N.B. Hmida, M.B. Ahmed, A. Moussa, M.B. Rejeb, Y. Said, and N. Kourda Impaired control of effector T cells by regulatory T cells: a clue to loss of oral tolerance and autoimmunity in celiac disease? Am J Gastroenterol November 2011 doi:10.1038/ajg. 2011.397
38. D. Zanzi, R. Stefanile, S. Santagata, L. Iaffaldano, G. Iaquinto, and N. Giardullo IL-15 interferes with suppressive activity of intestinal regulatory T cells expanded in celiac disease Am J Gastroenterol 106 2011 1308 1317
39. E.H. Halvorsen, E. Stronen, H.B. Hammer, G.L. Goll, L.M. Sollid, and O. Molberg Interleukin-15 induces interleukin-17 production by synovial T cell lines from patients with rheumatoid arthritis Scand J Immunol 73 2011 243 249
40. J.C. Sipe, N. Arbour, A. Gerber, and E. Beutler Reduced endocannabinoid immune modulation by a common cannabinoid 2 (CB2) receptor gene polymorphism: possible risk for autoimmune disorders J Leukoc Biol 78 2005 231 238 (Pubitemid 40979962)
41. B. Maher Personal genomes: the case of the missing heritability Nature 456 2008 18 21
42. M.C. Babron, S. Nilsson, S. Adamovic, A.T. Naluai, J. Wahlström, and H. Ascher Meta and pooled analysis of European coeliac disease data Eur J Hum Genet 11 2003 828 834 (Pubitemid 37406984)
43. A.J. Monsuur, P.I. de Bakker, B.Z. Alizadeh, A. Zhernakova, M.R. Bevova, and E. Strengman Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defects Nat Genet 37 2005 1341 1344 (Pubitemid 41722189)
44. M. van Belzen, C.J. Mulder, A. Zhernakova, P.L. Pearson, R.H. Houwen, and C. Wijmenga CTLA4+49 A/G and CT60 polymorphisms in Dutch coeliac disease patients Eur J Hum Genet 12 2004 782 785 (Pubitemid 39264064)
45. A.L. King, S.J. Moodie, J.S. Fraser, D. Curtis, E. Reid, and A.M. Dearlove Coeliac disease: investigation of proposed causal variants in the CTLA4 gene region Eur J Immunogenet 30 2003 427 432 (Pubitemid 38019301)
46. K.A. Hunt, A.J. Monsuur, W.L. McArdle, P.J. Kumar, S.P. Travis, and J.R. Walters Lack of association of MYO9B genetic variants with coeliac disease in a British cohort Gut 55 2006 969 972 (Pubitemid 43962608)
47. S.S. Amundsen, A.J. Monsuur, M.C. Wapenaar, B.A. Lie, J. Ek, and A.H. Gudjónsdóttir Association analysis of MYO9B gene polymorphism with celiac disease in a Swedish/Norwegian cohort Hum Immunol 67 2006 341 345 (Pubitemid 43729359)
48. G. Cirillo, M.R. Di Domenico, I. Corsi, T. Gagliardo, E.M. Del Giudice, and L. Perrone MYO9B genetic variants predispose to coeliac disease? An association study in a cohort of South Italian children Dig Liver Dis 39 2007 228 231 (Pubitemid 46196444)
49. C. Tolone, G. Cirillo, A. Papparella, S. Tolone, N. Santoro, and A. Grandone A common CTLA4 polymorphism confers susceptibility to autoimmune thyroid disease in celiac children Dig Liver Dis 41 2009 385 389