Genetic polymorphism in ATG16L1 gene influences the response to adalimumab in Crohn's disease patients

Pharmacogenomics

Volumn 16, Issue 3, 2015, Pages 191-204

  Koder, Silvo ^a   Repnik, Katja ^b   Ferkolj, Ivan ^c   Pernat, Cvetka ^a   Skok, Pavel ^a,b   Weersma, Rinse K ^d   Potočnik, Uroš ^b  

^a UNIVERSITY MEDICAL CENTRE MARIBOR   (Slovenia)

^b UNIVERSITY OF MARIBOR   (Slovenia)

^c UNIVERSITY MEDICAL CENTRE LJUBLJANA   (Slovenia)

^d UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

adalimumab; biological drugs; Crohn's disease; pharmacogenomics; single nucleotide polymorphism

Indexed keywords

ADALIMUMAB; C REACTIVE PROTEIN; CORTICOSTEROID; IMMUNOSUPPRESSIVE AGENT; INFLIXIMAB; ATG16L1 PROTEIN, HUMAN; CARRIER PROTEIN; GENETIC MARKER; TUMOR NECROSIS FACTOR ALPHA;

ADULT; ALLERGY; ARTICLE; ATG16L1 GENE; C11ORF30 GENE; CASP9 GENE; CCNY GENE; CROHN DISEASE; DIGESTIVE SYSTEM DISEASE ASSESSMENT; FEMALE; GENE; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; HEADACHE; HERPETIC STOMATITIS; HUMAN; HYPERSENSITIVITY; IL13 GENE; IL27 GENE; INFLAMMATORY BOWEL DISEASE QUESTIONNAIRE; INJECTION SITE ERYTHEMA; INJECTION SITE REACTION; LOADING DRUG DOSE; LOWER RESPIRATORY TRACT INFECTION; MAJOR CLINICAL STUDY; MALE; MUSCULOSKELETAL PAIN; NR1I2 GENE; PHARMACOGENETICS; PROSPECTIVE STUDY; PTGER4 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SLOVENIA; SMOKING; UPPER RESPIRATORY TRACT INFECTION; ANTAGONISTS AND INHIBITORS; GENETIC MARKER; GENETICS; GENOTYPE; METABOLISM; MIDDLE AGED; TREATMENT OUTCOME;

ADALIMUMAB; ADULT; C-REACTIVE PROTEIN; CARRIER PROTEINS; CROHN DISEASE; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC MARKERS; GENOTYPE; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; SLOVENIA; TREATMENT OUTCOME; TUMOR NECROSIS FACTOR-ALPHA;

EID: 84923652924     PISSN: 14622416     EISSN: 17448042     Source Type: Journal    
DOI: 10.2217/pgs.14.172     Document Type: Article

References (66)

1. Larsen S, Bendtzen K, Nielsen OH. Extraintestinal manifestations of inflammatory bowel disease: epidemiology, diagnosis, and management. Ann. Med. 42(2), 97-114 (2010
2. Podolsky DK. Inflammatory bowel disease. N. Engl. J. Med. 347(6), 417-429 (2002
3. Trinder MW, Lawrance IC. Efficacy of adalimumab for the management of inflammatory bowel disease in the clinical setting. J. Gastroenterol. Hepatol. 24(7), 1252-1257 (2009
4. Sandborn WJ, Hanauer SB, Rutgeerts P et al. Adalimumab for maintenance treatment of Crohn's disease: results of the CLASSIC II trial. Gut 56(9), 1232-1239 (2007
5. Zorzi F, Zuzzi S, Onali S et al. Efficacy and safety of infliximab and adalimumab in Crohn's disease: a single centre study. Aliment. Pharmacol. Ther. 35(12), 1397-1407 (2012
6. Hanauer SB, Sandborn WJ, Rutgeerts P et al. Human anti-Tumor necrosis factor monoclonal antibody (adalimumab) in Crohn's disease: the CLASSIC-I trial. Gastroenterology 130(2), 323-333 (2006
7. Colombel JF, Sandborn WJ, Rutgeerts P et al. Adalimumab for maintenance of clinical response and remission in patients with Crohn's disease: the CHARM trial. Gastroenterology 132(1), 52-65 (2007
8. Lofberg R, Louis EV, Reinisch W et al. Adalimumab produces clinical remission and reduces extraintestinal manifestations in Crohn's disease: results from CARE. Inflamm. Bowel Dis. 18(1), 1-9 (2012
9. Nichita C, Stelle M, Vavricka S et al. Clinical experience with adalimumab in a multicenter Swiss cohort of patients with Crohn's disease. Digestion 81(2), 78-85 (2010
10. Baert F, Moortgat L, Van AG et al. Mucosal healing predicts sustained clinical remission in patients with early-stage Crohn's disease. Gastroenterology 138(2), 463-468 (2010
11. Baert F, Drobne D, Gils A et al. Early trough levels and antibodies to infliximab predict safety and success of re-initiation of infliximab therapy. Clin. Gastroenterol. Hepatol. 12(9), 1474-1478 (2014
12. Vande CN, Ballet V, Van AG, Rutgeerts P, Vermeire S, Gils A. Early serial trough and antidrug antibody level measurements predict clinical outcome of infliximab and adalimumab treatment. Gut 61(2), 321 (2012
13. Karmiris K, Paintaud G, Noman M et al. Influence of trough serum levels and immunogenicity on long-Term outcome of adalimumab therapy in Crohn's disease. Gastroenterology 137(5), 1628-1640 (2009
14. Kiss LS, Szamosi T, Molnar T et al. Early clinical remission and normalisation of CRP are the strongest predictors of efficacy, mucosal healing and dose escalation during the first year of adalimumab therapy in Crohn's disease. Aliment. Pharmacol. Ther. 34(8), 911-922 (2011
15. Triantafillidis JK, Mantzaris G, Karagiannis J et al. Similar response to adalimumab in patients with active Crohn's disease either naive to biologic agents or with prior loss of response or intolerance to infliximab. Rev. Med. Chir. Soc. Med. Nat. Iasi 114(1), 85-90 (2010
16. Jostins L, Ripke S, Weersma RK et al. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature 491(7422), 119-124 (2012
17. Cascorbi I, Tyndale R. Progress in pharmacogenomics: bridging the gap from research to practice. Clin. Pharmacol. Ther. 95(3), 231-235 (2014
18. Roberts RL, Barclay ML. Current relevance of pharmacogenetics in immunomodulation treatment for Crohn's disease. J. Gastroenterol. Hepatol. 27(10), 1546-1554 (2012
19. Hlavaty T, Pierik M, Henckaerts L et al. Polymorphisms in apoptosis genes predict response to infliximab therapy in luminal and fistulizing Crohn's disease. Aliment. Pharmacol. Ther. 22(7), 613-626 (2005
20. Dideberg V, Theatre E, Farnir F et al. The TNF/ADAM 17 system: implication of an ADAM 17 haplotype in the clinical response to infliximab in Crohn's disease. Pharmacogenet. Genomics 16(10), 727-734 (2006
21. Dubinsky MC, Mei L, Friedman M et al. Genome wide association (GWA) predictors of anti-TNFalpha therapeutic responsiveness in pediatric inflammatory bowel disease. Inflamm. Bowel Dis. 16(8), 1357-1366 (2010
22. Mascheretti S, Hampe J, Kuhbacher T et al. Pharmacogenetic investigation of the TNF/TNF-receptor system in patients with chronic active Crohn's disease treated with infliximab. Pharmacogenomics J. 2(2), 127-136 (2002
23. Pierik M, Vermeire S, Steen KV et al. Tumour necrosis factor-alpha receptor 1 and 2 polymorphisms in inflammatory bowel disease and their association with response to infliximab. Aliment. Pharmacol. Ther. 20(3), 303-310 (2004
24. Louis E, Vermeire S, Rutgeerts P et al. A positive response to infliximab in Crohn disease: association with a higher systemic inflammation before treatment but not with -308 TNF gene polymorphism. Scand. J. Gastroenterol. 37(7), 818-824 (2002
25. Louis E, El GZ, Vermeire S et al. Association between polymorphism in IgG Fc receptor IIIa coding gene and biological response to infliximab in Crohn's disease. Aliment. Pharmacol. Ther. 19(5), 511-519 (2004
26. Louis EJ, Watier HE, Schreiber S et al. Polymorphism in IgG Fc receptor gene FCGR3A and response to infliximab in Crohn's disease: a subanalysis of the ACCENT I study. Pharmacogenet. Genomics 16(12), 911-914 (2006
27. Barreiro-De AM, Ouburg S, Morre SA et al. NOD2, CD14 and TLR4 mutations do not influence response to adalimumab in patients with Crohn's disease: a preliminary report. Rev. Esp. Enferm. Dig. 102(10), 591-595 (2010
28. Panaccione R, Loftus EV, Jr., Binion D et al. Efficacy and safety of adalimumab in Canadian patients with moderate to severe Crohn's disease: results of the Adalimumab in Canadian subjeCts with modErate to Severe Crohn's diseaSe (ACCESS) trial. Can. J. Gastroenterol. 25(8), 419-425 (2011
29. Satsangi J, Silverberg MS, Vermeire S, Colombel JF. The Montreal classification of inflammatory bowel disease: controversies, consensus, and implications. Gut 55(6), 749-753 (2006
30. Feng T, Zhu X. Genome-wide searching of rare genetic variants in WTCCC data. Hum. Genet. 128(3), 269-280 (2010
31. Duerr RH, Taylor KD, Brant SR et al. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science 314(5804), 1461-1463 (2006
32. Libioulle C, Louis E, Hansoul S et al. Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13. 1 and modulates expression of PTGER4. PLoS Genet. 3(4), e58 (2007
33. Hampe J, Franke A, Rosenstiel P et al. A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1. Nat. Genet. 39(2), 207-211 (2007
34. Dubinsky MC, Kugathasan S, Kwon S et al. Multidimensional prognostic risk assessment identifies association between IL12B variation and surgery in Crohn's disease. Inflamm. Bowel Dis. 19(8), 1662-1670 (2013
35. Wang K, Zhang H, Kugathasan S et al. Diverse genome-wide association studies associate the IL12/IL23 pathway with Crohn Disease. Am. J. Hum. Genet. 84(3), 399-405 (2009
36. Franke A, Mcgovern DP, Barrett JC et al. Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat. Genet. 42(12), 1118-1125 (2010
37. Anderson CA, Boucher G, Lees CW et al. Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nat. Genet. 43(3), 246-252 (2011
38. Mcgovern DP, Gardet A, Torkvist L et al. Genome-wide association identifies multiple ulcerative colitis susceptibility loci. Nat. Genet. 42(4), 332-337 (2010
39. Parkes M, Barrett JC, Prescott NJ et al. Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility. Nat. Genet. 39(7), 830-832 (2007
40. Yamazaki K, Mcgovern D, Ragoussis J et al. Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's disease. Hum. Mol. Genet. 14(22), 3499-3506 (2005
41. Baldassano RN, Bradfield JP, Monos DS et al. Association of variants of the interleukin-23 receptor gene with susceptibility to pediatric Crohn's disease. Clin. Gastroenterol. Hepatol. 5(8), 972-976 (2007
42. Danik JS, Pare G, Chasman DI et al. Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study. Circ. Cardiovasc. Genet. 2(2), 134-141 (2009
43. Luo Y, Xia B, Li C et al. Cytotoxic T lymphocyte antigen-4 promoter -658CT gene polymorphism is associated with ulcerative colitis in Chinese patients. Int. J. Colorectal Dis. 24(5), 489-493 (2009
44. Franke A, Balschun T, Karlsen TH et al. Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis. Nat. Genet. 40(6), 713-715 (2008
45. Li Y, Chang M, Schrodi SJ et al. The 5q31 variants associated with psoriasis and Crohn's disease are distinct. Hum. Mol. Genet. 17(19), 2978-2985 (2008
46. Dring MM, Goulding CA, Trimble VI et al. The pregnane X receptor locus is associated with susceptibility to inflammatory bowel disease. Gastroenterology 130(2), 341-348 (2006
47. Browning BL, Huebner C, Petermann I et al. Association of DLG5 variants with inflammatory bowel disease in the New Zealand Caucasian population and meta-analysis of the DLG5 R30Q variant. Inflamm. Bowel Dis. 13(9), 1069-1076 (2007
48. Klein W, Tromm A, Griga T et al. Interleukin-4 and interleukin-4 receptor gene polymorphisms in inflammatory bowel diseases. Genes Immun. 2(5), 287-289 (2001
49. Mitrovic M, Potocnik U. High-resolution melting curve analysis for high-Throughput genotyping of NOD2/CARD15 mutations and distribution of these mutations in Slovenian inflammatory bowel diseases patients. Dis. Markers 30(5), 265-274 (2011
50. Mitrovic M, Potocnik U. High resolution melting curve analysis for high-Throughput SNP genotyping in IL23R gene and association of IL23R with Slovenian inflammatory bowel diseases patients. Acta Chim. Slov. 57(2), 498-505 (2010
51. Repnik K, Potocnik U. Haplotype in the IBD5 region is associated with refractory Crohn's disease in Slovenian patients and modulates expression of the SLC22A5 gene. J. Gastroenterol. 46(9), 1081-1091 (2011
52. Repnik K, Potocnik U. CTLA4 CT60 single-nucleotide polymorphism is associated with Slovenian inflammatory bowel disease patients and regulates expression of CTLA4 isoforms. DNA Cell Biol. 29(10), 603-610 (2010
53. Hlavaty T, Persoons P, Vermeire S et al. Evaluation of short-Term responsiveness and cutoff values of inflammatory bowel disease questionnaire in Crohn's disease. Inflamm. Bowel Dis. 12(3), 199-204 (2006
54. Guyatt G, Mitchell A, Irvine EJ et al. A new measure of health status for clinical trials in inflammatory bowel disease. Gastroenterology 96(3), 804-810 (1989
55. Vermeire S, Van AG, Rutgeerts P. Laboratory markers in IBD: useful, magic, or unnecessary toys?. Gut 55(3), 426-431 (2006
56. Rioux JD, Xavier RJ, Taylor KD et al. Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nat. Genet. 39(5), 596-604 (2007
57. Gutierrez A, Scharl M, Sempere L et al. Genetic susceptibility to increased bacterial translocation influences the response to biological therapy in patients with Crohn's disease. Gut 63(2), 272-280 (2014
58. Duraes C, Machado JC, Portela F et al. Phenotype-genotype profiles in Crohn's disease predicted by genetic markers in autophagy-related genes (GOIA study II). Inflamm. Bowel Dis. 19(2), 230-239 (2013
59. Guo C, Ahmad T, Beckly J et al. Association of caspase-9 and RUNX3 with inflammatory bowel disease. Tissue Antigens 77(1), 23-29 (2011
60. Vermeire S, Louis E, Rutgeerts P et al. NOD2/CARD15 does not influence response to infliximab in Crohn's disease. Gastroenterology 123(1), 106-111 (2002
61. Mascheretti S, Hampe J, Croucher PJ et al. Response to infliximab treatment in Crohn's disease is not associated with mutations in the CARD15 (NOD2) gene: an analysis in 534 patients from two multicenter, prospective GCP-level trials. Pharmacogenetics 12(7), 509-515 (2002
62. Tersigni R, Prantera C. Crohn's Disease: A Multidisciplinary Approach. Springer, Milan, Italy (2010
63. Peyrin-Biroulet L, Reinisch W, Colombel JF et al. Clinical disease activity, C-reactive protein normalisation and mucosal healing in Crohn's disease in the SONIC trial. Gut 63(1), 88-95 (2014
64. Mannon P. GAIN for loss: adalimumab for infliximab-refractory Crohn disease. Ann. Intern. Med. 146(12), 888-890 (2007
65. Reenaers C, Louis E, Belaiche J, Seidel L, Keshav S, Travis S. Does co-Treatment with immunosuppressors improve outcome in patients with Crohn's disease treated with adalimumab?. Aliment. Pharmacol. Ther. 36(11-12), 1040-1048 (2012
66. Billioud V, Sandborn WJ, Peyrin-Biroulet L. Loss of response and need for adalimumab dose intensification in Crohn's disease: a systematic review. Am. J. Gastroenterol. 106(4), 674-684 (2011