Overcoming difficulty in diagnosis and differential diagnosis of Crohns disease: The potential role of serological and genetic tests

Expert Review of Molecular Diagnostics

Volumn 15, Issue 9, 2015, Pages 1133-1141

  Liu, Zhaoxiu ^a   Shen, Bo ^b  

^a NANTONG UNIVERSITY   (China)

^b LERNER RESEARCH INSTITUTE   (United States)

Author keywords

biomarkers; Crohn's disease; diagnosis; differential diagnosis; genetic testing; inflammatory bowel disease; serology

Indexed keywords

BIOLOGICAL MARKER; ANTIBODY;

CROHN DISEASE; DIFFERENTIAL DIAGNOSIS; GENETIC SCREENING; GENOMICS; HUMAN; PHENOTYPE; PREDICTIVE VALUE; PROGNOSIS; REVIEW; SEROLOGY; BLOOD; GENETICS; IMMUNOLOGY; PROCEDURES;

ANTIBODIES; BIOMARKERS; CROHN DISEASE; DIAGNOSIS, DIFFERENTIAL; GENETIC TESTING; HUMANS; PHENOTYPE; PROGNOSIS; SEROLOGIC TESTS;

EID: 84940588378     PISSN: 14737159     EISSN: 17448352     Source Type: Journal    
DOI: 10.1586/14737159.2015.1068121     Document Type: Review

References (103)

1. Dotan I. In: Laboratory evaluation including novel diagnostic markers of inflammatory bowel disease. Baumgart DC, editor. In Crohn's Disease and Ulcerative Colitis:From Epidemiology and Immunobiology to a Rational Diagnostic and Therapeutic Approah. Springer; New York: 2012. p. 277-85
2. Kaul A, Hutfless S, Liu L, et al. Serum anti-glycan antibody biomarkers for inflammatory bowel disease diagnosis and progression: a systematic review and meta-analysis. Inflamm Bowel Dis 2012;18: 1872-84
3. Prideaux L, De Cruz P, Ng SC, et al. Serological antibodies in inflammatory bowel disease: a systematic review. Inflamm Bowel Dis 2012;18:1340-55
4. Moniuszko A, Wisniewska A, Rydzewska G. Biomarkers in management of inflammatory bowel disease. Prz Gastroenterol 2013;8: 275-83
5. Prideaux L, Kamm MA, De Cruz P, et al. Inflammatory bowel disease serology in Asia and the West. World J Gastroenterol 2013;19:6207-13
6. Zhou F, Xia B, Wang F, et al. The prevalence and diagnostic value of peri-nuclear anti-neutrophil cytoplasmic antibodies and anti-Saccharomyces cerevisiae antibodies in patients with inflammatory bowel disease in mainland China. Clin Chim Acta 2010;411:1461-5
7. O'Donnell S, O'Sullivan M, O'Morain CA, et al. The clinical significance of antimicrobial erologic responses within an Irish Crohn's disease population. Eur J Gastroenterol Hepatol 2013;25:1464-9
8. Papp M, Norman GL, Altorjay I, et al. Utility of serological markers in inflammatory bowel diseases: gadget or magic? World J Gastroenterol 2007;13: 2028-36
9. Nisihara RM, de Carvalho WB, Utiyama SR, et al. Diagnostic role and clinical association of ASCA and ANCA in Brazilian patients with inflammatory bowel disease. Dig Dis Sci 2010;55:2309-15
10. Arias-Loste MT, Bonilla G, Moraleja I, et al. Presence of anti-proteinase 3 anti-neutrophil cytoplasmic antibodies (anti-PR3 ANCA) as serologic markers in inflammatory bowel disease. Clin Rev Allergy Immunol 2013;45:109-16
11. Koutroubakis IE, Drygiannakis D, Tsirogianni A, et al. Anti-glycan antibodies in Greek patients with inflammatory bowel disease. Dig Dis Sci 2011;56:845-52
12. Li X, Conklin L, Alex P. New serological biomarkers of inflammatory bowel disease. World J Gastroenterol 2008;14:5115-24
13. Rieder F, Schleder S, Wolf A, et al. Association of the novel serologic anti-glycan antibodies anti-laminarin and anti-chitin with complicated Crohn's disease behavior. Inflamm Bowel Dis 2010;16: 263-74
14. Lakatos PL, Papp M, Rieder F. Serologic anti-glycan antibodies in inflammatory bowel disease. Am J Gastroenterol 2011;106:406-12
15. Malickova K, Lakatos PL, Bortlik M, et al. Anti-carbohydrate antibodies as markers of inflammatory bowel disease in a Central European cohort. Euro J Gastroenterol Hepatol 2010;22:144-50
16. Simondi D, Mengozzi G, Betteto S, et al. Anti-glycan antibodies as serological markers in the differential diagnosis of inflammatory bowel disease. Inflamm Bowel Dis 2008;14: 645-51
17. Sellin JH, Shah RR. The promise and pitfalls of serologic testing in inflammatory bowel disease. Gastroenterol Clin North Am 2012;41:463-82
18. Schoepfer AM, Schaffer T, Mueller S, et al. Phenotypic associations of Crohn's disease with antibodies to flagellins A4-Fla2 and Fla-X, ASCA, p-ANCA, PAB, and NOD2 mutations in a Swiss Cohort. Inflamm Bowel Dis 2009;15:1358-67
19. Iskandar HN, Ciorba MA. Biomarkers in inflammatory bowel disease: current practices and recent advances. Transl Res 2012;159:313-25
20. Markowitz J, Kugathasan S, Dubinsky M, et al. Age of diagnosis influences serologic responses in children with Crohn's disease: a possible clue to etiology? Inflamm Bowel Dis 2009;15:714-19
21. Roggenbuck D, Reinhold D, Wex T, et al. Autoantibodies to GP2, the major zymogen granule membrane glycoprotein are new markers in Crohn's disease. Clin Chim Acta 2011;412:718-24
22. Mitsuyama K, Niwa M, Masuda J, et al. Possible diagnostic role of antibodies to Crohn's disease peptide (ACP): results of a multicenter study in a Japanese cohort. J Gastroenterol 2014;49:683-91
23. van Schaik FD, Oldenburg B, Hart AR, et al. Serological markers predict inflammatory bowel disease years before the diagnosis. Gut 2013;62:683-8
24. Sura SP, Ahmed A, Cheifetz AS, et al. Characteristics of inflammatory bowel disease serology in patients with indeterminate colitis. J Clin Gastroenterol 2014;48:351-5
25. Joossens S, Reinisch W, Vermeire S, et al. The value of serologic markers in indeterminate colitis: a prospective follow-up study. Gastroenterology 2002; 122(5):1242-7
26. Mokrowiecka A, Daniel P, S?omka M, et al. Clinical utility of serological markers in inflammatory bowel disease. Hepatogastroenterology 2009;56:162-6
27. Reese GE, Constantinides VA, Simillis C, et al. Diagnostic precision of anti-Saccharomyces cerevisiae antibodies and peri-nuclear anti-neutrophil cytoplasmic antibodies in inflammatory bowel disease. Am J Gastroenterol 2006;101:2410-22
28. Takaishi H, Kanai T, Nakazawa A, et al. Anti-high mobility group box 1 and box 2 non-histone chromosomal proteins (HMGB1/HMGB2) antibodies and anti-Saccharomyces cerevisiae antibodies (ASCA): accuracy in differentially diagnosing UC and CD and correlation with inflammatory bowel disease phenotype. J Gastroenterol 2012;47:969-77
29. Bahari A, Aarabi M, Hedayati M, et al. Diagnostic value of anti-neutrophil cytoplasmic antibodies and anti-Saccharomyces cerevisiae antibody in Iranian patients with inflammatory bowel disease. Acta Gastroenterol Belg 2009;72: 301-5
30. Seow CH, Stempak JM, Xu W, et al. Novel anti-glycan antibodies related to inflammatory bowel disease diagnosis and phenotype. Am J Gastroenterol 2009;104: 1426-34
31. Joossens S, Colombel JF, Landers C, et al. Anti-outer membrane of porin C and anti-I2 antibodies in indeterminate colitis. Gut 2006;55:1667-9
32. Melmed GY, Elashoff R, Chen GC, et al. Predicting a change in diagnosis from ulcerative colitis to Crohn's disease: A nested, case-control study. Clin Gastroenterol Hepatol 2007;5:602-8
33. Ferrante M, Henckaerts L, Joossens M, et al. New serological markers in inflammatory bowel disease are associated with complicated disease behaviour. Gut 2007;56:1394-403
34. S?adek M, Wasilewska A, Swiat A, et al. Serum anti-glycan antibodies in paediatric-onset Crohn's disease: association with disease phenotype and diagnostic accuracy. Prz Gastroenterol 2014;9:232-41
35. Rieder F, Hahn P, Finsterhoelzl L, et al. Clinical utility of anti-glycan antibodies in pediatric Crohn's disease in comparison with an adult cohort. Inflamm Bowel Dis 2012;18:1221-31
36. Benor S, Russell GH, Silver M, et al. Shortcomings of the inflammatory bowel disease Serology 7 panel. Pediatrics 2010;125:1230-6
37. Ghoshal U, Singh H, Tiwari S. Anti-Saccharomyces cerevisiae antibody is not useful to differentiate between Crohn's disease and intestinal tuberculosis in India. J Postgrad Med 2007;53:166-70
38. Makharia GK, Sachdev V, Gupta R, et al. Anti-Saccharomyces cerevisiae antibody does not differentiate between Crohn's disease and intestinal tuberculosis. Dig Dis Sci 2007;52:33-9
39. Kotze LM, Nisihara RM, Utiyama SR, et al. Antibodies anti-Saccharomyces cerevisiae (ASCA) do not differentiate Crohn's disease from celiac disease. Arq Gastroenterol 2010;47:242-5
40. Ng SC, Hirai HW, Tsoi KK, et al. Systematic review with meta-analysis: accuracy of interferon-gamma releasing assay and anti-Saccharomyces cerevisiae antibody in differentiating intestinal tuberculosis from Crohn's disease in Asians. J Gastroenterol Hepatol 2014;29:1664-70
41. Kuna AT. Serological markers of inflammatory bowel disease. Biochem Med (Zagreb) 2013;23:28-42
42. Michielan A, Basso D, Martinato M, et al. Increased antibody response to microbial antigens in patients with Crohn's disease and their unaffected first-degree relatives. Dig Liver Dis 2013;45:894-8
43. Joossens M, Van Steen K, Branche J, et al. Familial aggregation and anti-microbial response dose-dependently affect the risk for Crohn's disease. Inflamm Bowel Dis 2010;16:58-67
44. Ryan JD, Silverberg MS, Xu W, et al. Predicting complicated Crohn's disease and surgery: phenotypes, genetics, serology and psychological characteristics of a population-based cohort. Aliment Pharmacol Ther 2013;38:274-83
45. Gologan S, Iacob R, Preda C, et al. Higher titers of anti-Saccharomyces cerevisiae antibodies IgA and IgG are associated with more aggressive phenotypes in Romanian patients with Crohn's disease. J Gastrointest Liver Dis 2012;21:39-44
46. Xiong Y, Wang GZ, Zhou JQ, et al. Serum antibodies to microbial antigens for Crohn's disease progression: a meta-analysis. Eur J Gastroenterol Hepatol 2014;26:733-42
47. Shen B, Remzi FH, Hammel JP, et al. Family history of Crohn's disease is associated with an increased risk for Crohn's disease of the pouch. Inflamm Bowel Dis 2009;15:163-70
48. Melmed GY, Fleshner PR, Bardakcioglu O, et al. Family history and serology predict Crohn's disease after ileal pouch-anal anastomosis for ulcerative colitis. Dis Colon Rectum 2008;51:100-8
49. Tyler AD, Milgrom R, Xu W, et al. Antimicrobial antibodies are associated with a Crohn's disease-like phenotype after ileal pouch-anal anastomosis. Clin Gastroenterol Hepatol 2012;10:507-12
50. Coukos JA, Howard LA, Weinberg JM, et al. ASCA IgG and CBir antibodies are associated with the development of Crohn's disease and fistulae following ileal pouch-anal anastomosis. Dig Dis Sci 2012;57:1544-53
51. Truta B, Li DX, Mahadevan U, et al. Serologic markers associated with development of Crohn's disease after ileal pouch anal anastomosis for ulcerative colitis. Dig Dis Sci 2014;59:135-45
52. Werner L, Sturm A, Roggenbuck D, et al. Antibodies against glycoprotein 2 are novel markers of intestinal inflammation in patients with an ileal pouch. J Crohns Colitis 2013;7:e522-32
53. Ananthakrishnan AN, Huang H, Nguyen DD, et al. Differential effect of genetic burden on disease phenotypes in Crohn's disease and ulcerative colitis: analysis of a North American cohort. Am J Gastroenterol 2014;109:395-400
54. Jostins L, Ripke S, Weersma RK, et al. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature 2012;491:119-24
55. Hugot JP, Chamaillard M, Zouali H, et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 2001;411:599-603
56. Naser SA, Arce M, Khaja A, et al. Role of ATG16L, NOD2 and IL23R in Crohn's disease pathogenesis. World J Gastroenterol 2012;18:412-24
57. Mathew CG, Lewis CM. Genetics of inflammatory bowel disease: progress and prospects. Hum Mol Genet 2004; 13(Suppl 1):R161-8
58. Riis L, Vind I, Vermeire S, et al. The prevalence of genetic and serologic markers in an unselected European population-based cohort of IBD patients. Inflamm Bowel Dis 2007;13:24-32
59. Gao M, Cao Q, Luo LH, et al. NOD2/CARD15 gene polymorphisms and susceptibility to Crohn's disease in Chinese Han population. Zhong Hua Nei Ke Za Zhi 2005;44:210-12; in Chinese
60. Ahuja V, Tandon RK. Inflammatory bowel disease in the Asia-Pacific area: A comparison with developed countries and regional differences. J Dig Dis 2010;11: 134-47
61. Yamazaki K, Takazoe M, Tanaka T, et al. Absence of mutation in the NOD2/CARD15 gene among 483 Japanese patients with Crohn's disease. J Hum Genet 2002;47:469-72
62. Newman WG, Zhang Q, Liu X, et al. Genetic variants in IL-23R and ATG16L1 independently predispose to increased susceptibility to Crohn's disease in a Canadian population. J Clin Gastroenterol 2009;43:444-7
63. Okazaki T, Wang MH, Rawsthorne P, et al. Contributions of IBD5, IL23R, ATG16L1, and NOD2 to Crohn's disease risk in a population-based case-control study: evidence of gene-gene interactions. Inflamm Bowel Dis 2008;14:1528-41
64. Jakobsen C, Cleynen I, Andersen PS, et al. Genetic susceptibility and genotype-phenotype association in 588 Danish children with inflammatory bowel disease. J Crohns Colitis 2014;8: 678-85
65. Zhang J, Chen J, Gu J, et al. Association of IL23R and ATG16L1 with susceptibility of Crohn's disease in Chinese population. Scand J Gastroenterol 2014;49:1201-6
66. Li Y, Mao Q, Shen L, et al. Interleukin-23 receptor genetic polymorphisms and Crohn's disease susceptibility: a meta-analysis. Inflamm Res 2010;59:607-14
67. Amre DK, Mack D, Israel D, et al. Association between genetic variants in the IL-23R gene and early-onset Crohn's disease: Results from a case-control and family-based study among Canadian children. Am J Gastroenterol 2008;103: 615-20
68. Lin LJ, Zhang Y, Lin Y, et al. Identifying candidate genes for discrimination of ulcerative colitis and Crohn's disease. Mol Biol Rep 2014;41:6349-55
69. Lu Y, Li CY, Lin SS, et al. IRGM rs13361189 polymorphism may contribute to susceptibility to Crohn's disease: A meta-analysis. Exp Ther Med 2014;8: 607-13
70. Glas J, Seiderer J, Bues S, et al. IRGM variants and susceptibility to inflammatory bowel disease in the German population. PLoS One 2013;8:e54338
71. Moon CM, Shin DJ, Kim SW, et al. Associations between genetic variants in the IRGM gene and inflammatory bowel diseases in the Korean population. Inflamm Bowel Dis 2013;19:106-14
72. Almeida NP, Santana GO, Almeida TC, et al. Polymorphisms of the cytokine genes TGFB1 and IL10 in a mixed-race population with Crohn's disease. BMC Res Notes 2013;6:387
73. Shim JO, Hwang S, Yang HR, et al. Interleukin-10 receptor mutations in children with neonatal-onset Crohn's disease and intractable ulcerating enterocolitis. Eur J Gastroenterol Hepatol 2013;25:1235-40
74. Akyuz F, Besisik F, Ustek D, et al. Association of the MEFV gene variations with inflammatory bowel disease in Turkey. J Clin Gastroenterol 2013;47:e23-7
75. Morgan AR, Lam WJ, Han DY, et al. Association Analysis of ULK1 with Crohn's Disease in a New Zealand Population. Gastroenterol Res Pract 2012;2012:715309
76. Morgan AR, Lam WJ, Han DY, et al. Genetic variation within TLR10 is associated with Crohn's disease in a New Zealand population. Hum Immunol 2012;73:416-20
77. Krupoves A, Seidman EG, Mack D, et al. Associations between ABCB1/MDR1 gene polymorphisms and Crohn's disease: a gene-wide study in a pediatric population. Inflamm Bowel Dis 2009;15:900-8
78. McGovern DP, Butler H, Ahmad T, et al. TUCAN (CARD8) genetic variants and inflammatory bowel disease. Gastroenterology 2006;131:1190-6
79. Biank V, Friedrichs F, Babusukumar U, et al. DLG5 R30Q variant is a female-specific protective factor in pediatric onset Crohn's disease. Am J Gastroenterol 2007;102:391-8
80. Jung C, Colombel JF, Lemann M, et al. Genotype/phenotype analyses for 53 Crohn's disease associated genetic polymorphisms. PLoS ONE 2012;7:e52223
81. von Stein P, Lofberg R, Kuznetsov NV, et al. Multigene analysis can discriminate between ulcerative colitis, Crohn's disease, and irritable bowel syndrome. Gastroenterology 2008;134:1869-81; quiz 2153-4
82. Janczewska I, Kapraali M, Saboonchi F, et al. Clinical application of the multigene analysis test in discriminating between ulcerative colitis and Crohn's disease: a retrospective study. Scand J Gastroenterol 2012;47:162-9
83. Wang MH, Fiocchi C, Ripke S, et al. A novel approach to detect cumulative genetic effects and genetic interactions in Crohn's disease. Inflamm Bowel Dis 2013;19:1799-808
84. Burakoff R, Chao S, Perencevich M, et al. Blood-based biomarkers can differentiate ulcerative colitis from Crohn's disease and non-inflammatory diarrhea. Inflamm Bowel Dis 2011;17:1719-25
85. Waterman M, Xu W, Stempak JM, et al. Distinct and overlapping genetic loci in Crohn's disease and ulcerative colitis: correlations with pathogenesis. Inflamm Bowel Dis 2011;17:1936-42
86. Lichtenstein GR, Targan SR, Dubinsky MC, et al. Combination of genetic and quantitative serological immune markers are associated with complicated Crohn's disease behavior. Inflamm Bowel Dis 2011;17: 2488-96
87. Tung CC, Wong JM, Lee WC, et al. Combining TNFSF15 and ASCA IgA can be used as a predictor for the stenosis/perforating phenotype of Crohn's disease. J Gastroenterol Hepatol 2014;29:723-9
88. Plevy S, Silverberg MS, Lockton S, et al. Combined serological, genetic, and inflammatory markers differentiate non-IBD, Crohn's disease, and ulcerative colitis patients. Inflamm Bowel Dis 2013;19:1139-48
89. Mardini HE, Gregory KJ, Nasser M, et al. Gastroduodenal Crohn's disease is associated with NOD2/CARD15 gene polymorphisms, particularly L1007P homozygosity. Dig Dis Sci 2005;50: 2316-22
90. Tyler AD, Milgrom R, Stempak JM, et al. The NOD2insC polymorphism is associated with worse outcome following ileal pouch-anal anastomosis for ulcerative colitis. Gut 2013;62:1433-9
91. Yamamoto S, Ma X. Role of Nod2 in the development of Crohn's disease. Microbes Infect 2009;11:912-18
92. Schnitzler F, Friedrich M, Wolf C, et al. The NOD2 p.Leu1007fsX1008 Mutation (rs2066847) Is a Stronger Predictor of the Clinical Course of Crohn's Disease than the FOXO3A Intron Variant rs12212067. PLoS One 2014;9:e108503
93. Tsianos EV, Katsanos KH, Tsianos VE. Role of genetics in the diagnosis and prognosis of Crohn's disease. World J Gastroenterol 2011;17:5246-59
94. Bhullar M, Macrae F, Brown G, et al. Prediction of Crohn's disease aggression through NOD2/CARD15 gene sequencing in an Australian cohort. World J Gastroenterol 2014;20:5008-16
95. Posovszky C, Pfalzer V, Lahr G, et al. Ageof-onset-dependent influence of NOD2 gene variants on disease behaviour and treatment in Crohn's disease. BMC Gastroenterol 2013;13:77
96. Cleynen I, González JR, Figueroa C, et al. Genetic factors conferring an increased susceptibility to develop Crohn's disease also influence disease phenotype: Results from the IBDchip European Project. Gut 2013;62:1556-65
97. Gazouli M, Pachoula I, Panayotou I, et al. NOD2/CARD15, ATG16L1 and IL23R gene polymorphisms and childhood-onset of Crohn's disease. World J Gastroenterol 2010;16:1753-8
98. Solon JG, Burke JP, Walsh SR, et al. The effect of NOD2 polymorphism on postsurgical recurrence in Crohn's disease: a systematic review and meta-analysis of available literature. Inflamm Bowel Dis 2013;19:1099-105
99. Strisciuglio C, Auricchio R, Martinelli M, et al. Autophagy genes variants and paediatric Crohn's disease phenotype: A single-centre experience. Dig Liver Dis 2014;46:512-17
100. Sehgal R, Berg A, Polinski JI, et al. Mutations in IRGM are associated with more frequent need for surgery in patients with ileocolonic Crohn's disease. Dis Colon Rectum 2012;55:115-21
101. Hirano A, Yamazaki K, Umeno J, et al. Association study of 71 European Crohn's disease susceptibility loci in a Japanese population. Inflamm Bowel Dis 2013;19: 526-33
102. Fowler SA, Ananthakrishnan AN, Gardet A, et al. SMAD3 gene variant is a risk factor for recurrent surgery in patients with Crohn's disease. J Crohns Colitis 2014;8: 845-51
103. 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 2013;19: 1662-70