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Volumn 20, Issue 10, 2014, Pages 1878-1884

Role of genetics in pediatric inflammatory bowel disease

Author keywords

Genetics; Inflammatory bowel disease; Next generation sequencing; Very early onset

Indexed keywords

DISEASE COURSE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENETICS; HERITABILITY; HUMAN; INFLAMMATORY BOWEL DISEASE; NEXT GENERATION SEQUENCING; PEDIATRICS; PRIORITY JOURNAL; REVIEW; SEQUENCE ANALYSIS; CHILD; GENETIC PREDISPOSITION; INFLAMMATION; PROGNOSIS;

EID: 84925810668     PISSN: 10780998     EISSN: 15364844     Source Type: Journal    
DOI: 10.1097/MIB.0000000000000085     Document Type: Review
Times cited : (21)

References (72)
  • 1
    • 2442563304 scopus 로고    scopus 로고
    • Clinical epidemiology of inflammatory bowel disease: Incidence, prevalence, and environmental influences
    • Loftus EV. Clinical epidemiology of inflammatory bowel disease: incidence, prevalence, and environmental influences. Gastroenterology. 2004;126:1504-1517.
    • (2004) Gastroenterology , vol.126 , pp. 1504-1517
    • Loftus, E.V.1
  • 2
    • 79955712974 scopus 로고    scopus 로고
    • Pediatric modification of the Montreal classification for inflammatory bowel disease: The Paris classification
    • Levine A, Griffiths A, Markowitz J, et al. Pediatric modification of the Montreal classification for inflammatory bowel disease: the Paris classification. Inflamm Bowel Dis. 2011;17:1314-1321.
    • (2011) Inflamm Bowel Dis. , vol.17 , pp. 1314-1321
    • Levine, A.1    Griffiths, A.2    Markowitz, J.3
  • 3
    • 84868336049 scopus 로고    scopus 로고
    • Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease
    • Jostins L, Ripke S, Weersma R, et al. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature. 2012;491:119-124.
    • (2012) Nature. , vol.491 , pp. 119-124
    • Jostins, L.1    Ripke, S.2    Weersma, R.3
  • 4
    • 52949091918 scopus 로고    scopus 로고
    • Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease
    • Kugathasan S, Baldassano RN, Bradfield JP, et al. Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease. Nat Genet. 2008;40:1211-1215.
    • (2008) Nat Genet. , vol.40 , pp. 1211-1215
    • Kugathasan, S.1    Baldassano, R.N.2    Bradfield, J.P.3
  • 5
    • 70649113728 scopus 로고    scopus 로고
    • Common variants at five new loci associated with early-onset inflammatory bowel disease
    • Imielinski M, Baldassano RN, Griffiths A, et al. Common variants at five new loci associated with early-onset inflammatory bowel disease. Nat Genet. 2009;41:1335-1340.
    • (2009) Nat Genet. , vol.41 , pp. 1335-1340
    • Imielinski, M.1    Baldassano, R.N.2    Griffiths, A.3
  • 6
    • 0028055217 scopus 로고
    • Crohn's disease in children 10 years old and younger: Comparison with ulcerative colitis
    • Gryboski JD. Crohn's disease in children 10 years old and younger: comparison with ulcerative colitis. J Pediatr Gastroenterol Nutr. 1994;18:174-182.
    • (1994) J Pediatr Gastroenterol Nutr. , vol.18 , pp. 174-182
    • Gryboski, J.D.1
  • 7
    • 0000281548 scopus 로고
    • Chronic inflammatory bowel disease
    • Claude C. Roy, Arnold Silverman, and Daniel Alagille, eds, 4th ed. Mosby
    • Seidman E. Chronic inflammatory bowel disease. In: Claude C. Roy, Arnold Silverman, and Daniel Alagille, eds. Pediatric Clinical Gastroenterology. 4th ed. Mosby, 1995:427-493.
    • (1995) Pediatric Clinical Gastroenterology , pp. 427-493
    • Seidman, E.1
  • 8
    • 0029810041 scopus 로고    scopus 로고
    • Crohn's disease: Influence of age at diagnosis on site and clinical type of disease
    • Polito JM II, Childs B, Mellits ED, et al. Crohn's disease: influence of age at diagnosis on site and clinical type of disease. Gastroenterology. 1996;111:580-586.
    • (1996) Gastroenterology , vol.111 , pp. 580-586
    • Polito, J.M.1    Childs, B.2    Mellits, E.D.3
  • 9
    • 36749081017 scopus 로고    scopus 로고
    • Pediatric inflammatory bowel disease: Clinical and molecular genetics
    • Biank V, Broeckel U, Kugathasan S. Pediatric inflammatory bowel disease: clinical and molecular genetics. Inflamm Bowel Dis. 2007;13:1430-1438.
    • (2007) Inflamm Bowel Dis. , vol.13 , pp. 1430-1438
    • Biank, V.1    Broeckel, U.2    Kugathasan, S.3
  • 11
    • 0035087887 scopus 로고    scopus 로고
    • Smoking cessation and the course of Crohn's disease: An intervention study
    • Cosnes J, Beaugerie L, Carbonnel F, et al. Smoking cessation and the course of Crohn's disease: an intervention study. Gastroenterology. 2001;120:1093-1099.
    • (2001) Gastroenterology , vol.120 , pp. 1093-1099
    • Cosnes, J.1    Beaugerie, L.2    Carbonnel, F.3
  • 12
    • 0023713859 scopus 로고
    • Ulcerative colitis and Crohn's disease in an unselected population of monozygotic and dizygotic twins. A study of heritability and the influence of smoking
    • Tysk C, Lindberg E, Jarnerot G, et al. Ulcerative colitis and Crohn's disease in an unselected population of monozygotic and dizygotic twins. A study of heritability and the influence of smoking. Gut. 1988;29:990-996.
    • (1988) Gut. , vol.29 , pp. 990-996
    • Tysk, C.1    Lindberg, E.2    Jarnerot, G.3
  • 13
    • 0030042271 scopus 로고    scopus 로고
    • Genetics versus environment in inflammatory bowel disease: Results of a British twin study
    • Thompson NP, Driscoll R, Pounder RE, et al. Genetics versus environment in inflammatory bowel disease: results of a British twin study. BMJ. 1996;312:95-96.
    • (1996) BMJ , vol.312 , pp. 95-96
    • Thompson, N.P.1    Driscoll, R.2    Pounder, R.E.3
  • 14
    • 0033773642 scopus 로고    scopus 로고
    • Concordance of inflammatory bowel disease among Danish twins. Results of a nationwide study
    • Orholm M, Binder V, Sorensen TI, et al. Concordance of inflammatory bowel disease among Danish twins. Results of a nationwide study. Scand J Gastroenterol. 2000;35:1075-1081.
    • (2000) Scand J Gastroenterol. , vol.35 , pp. 1075-1081
    • Orholm, M.1    Binder, V.2    Sorensen, T.I.3
  • 15
    • 0025966488 scopus 로고
    • Familial occurrence of inflammatory bowel disease
    • Orholm M, Munkholm P, Langholz E, et al. Familial occurrence of inflammatory bowel disease. N Engl J Med. 1991;324:84-88.
    • (1991) N Engl J Med. , vol.324 , pp. 84-88
    • Orholm, M.1    Munkholm, P.2    Langholz, E.3
  • 16
    • 0029788997 scopus 로고    scopus 로고
    • Familial aggregation in Crohn's disease: Increased age-adjusted risk and concordance in clinical characteristics
    • Peeters M, Nevens H, Baert F, et al. Familial aggregation in Crohn's disease: increased age-adjusted risk and concordance in clinical characteristics. Gastroenterology. 1996;111:597-603.
    • (1996) Gastroenterology , vol.111 , pp. 597-603
    • Peeters, M.1    Nevens, H.2    Baert, F.3
  • 17
    • 33745473236 scopus 로고    scopus 로고
    • Family and twin studies in inflammatory bowel disease
    • Halme L, Paavola-Sakki P, Turunen U, et al. Family and twin studies in inflammatory bowel disease. World J Gastroenterol. 2006;12:3668-3672.
    • (2006) World J Gastroenterol. , vol.12 , pp. 3668-3672
    • Halme, L.1    Paavola-Sakki, P.2    Turunen, U.3
  • 18
    • 0000628744 scopus 로고
    • Genetic aspects of idiopathic inflammatory bowel disease
    • Kirsner JB, Shorter RG, eds, 4th ed. Williams & Wilkins
    • Yang H, Rotter JI. Genetic aspects of idiopathic inflammatory bowel disease. In: Kirsner JB, Shorter RG, eds. Inflammatory Bowel Disease. 4th ed. Williams & Wilkins; 1995:301-331.
    • (1995) Inflammatory Bowel Disease , pp. 301-331
    • Yang, H.1    Rotter, J.I.2
  • 19
    • 0031011057 scopus 로고    scopus 로고
    • The genetics of inflammatory bowel disease
    • Satsangi J, Jewell DP, Bell JI. The genetics of inflammatory bowel disease. Gut. 1997;40:572-574.
    • (1997) Gut. , vol.40 , pp. 572-574
    • Satsangi, J.1    Jewell, D.P.2    Bell, J.I.3
  • 20
    • 79952195585 scopus 로고    scopus 로고
    • Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47
    • 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. 2011;43:246-252.
    • (2011) Nat Genet. , vol.43 , pp. 246-252
    • Anderson, C.A.1    Boucher, G.2    Lees, C.W.3
  • 21
    • 78649489009 scopus 로고    scopus 로고
    • Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci
    • 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. 2010;42:1118-1125.
    • (2010) Nat Genet. , vol.42 , pp. 1118-1125
    • Franke, A.1    McGovern, D.P.2    Barrett, J.C.3
  • 22
    • 79954479289 scopus 로고    scopus 로고
    • Genome-wide association studies and Crohn's disease
    • Lee JC, Parkes M. Genome-wide association studies and Crohn's disease. Brief Functional Genomics. 2011;10:71-76.
    • (2011) Brief Functional Genomics. , vol.10 , pp. 71-76
    • Lee, J.C.1    Parkes, M.2
  • 24
    • 84867699321 scopus 로고    scopus 로고
    • The genetics universe of Crohn's disease and ulcerative colitis
    • Parkes M. The genetics universe of Crohn's disease and ulcerative colitis. Dig Dis. 2012;30(suppl 1):78-81.
    • (2012) Dig Dis. , vol.30 , pp. 78-81
    • Parkes, M.1
  • 25
    • 84876361518 scopus 로고    scopus 로고
    • Genetic susceptibility in IBD: Overlap between ulcerative colitis and Crohn's disease
    • Doecke JD, Simms LA, Zhao ZZ, et al. Genetic susceptibility in IBD: overlap between ulcerative colitis and Crohn's disease. Inflamm Bowel Dis. 2013;19:240-245.
    • (2013) Inflamm Bowel Dis. , vol.19 , pp. 240-245
    • Doecke, J.D.1    Simms, L.A.2    Zhao, Z.Z.3
  • 26
    • 79959216005 scopus 로고    scopus 로고
    • Genetics and pathogenesis of inflammatory bowel disease
    • Khor B, Gardet A, Xavier R. Genetics and pathogenesis of inflammatory bowel disease. Nature. 2011;474:307-317.
    • (2011) Nature. , vol.474 , pp. 307-317
    • Khor, B.1    Gardet, A.2    Xavier, R.3
  • 27
    • 48349136889 scopus 로고    scopus 로고
    • Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease
    • Barrett JC, Hansoul S, Nicolae DL, et al. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat Genet. 2008;40:955-962.
    • (2008) Nat Genet. , vol.40 , pp. 955-962
    • Barrett, J.C.1    Hansoul, S.2    Nicolae, D.L.3
  • 28
    • 84868336049 scopus 로고    scopus 로고
    • Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease
    • Jostins L, Ripke S, Weersma RK, et al. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature. 2012;491:119-124.
    • (2012) Nature. , vol.491 , pp. 119-124
    • Jostins, L.1    Ripke, S.2    Weersma, R.K.3
  • 29
    • 84882449068 scopus 로고    scopus 로고
    • Genetic insights into common pathways and complex relationships among immune-mediated diseases
    • Parkes M, Cortes A, Van Heel DA, et al. Genetic insights into common pathways and complex relationships among immune-mediated diseases. Nat Rev Genet. 2013;14:661-673.
    • (2013) Nat Rev Genet. , vol.14 , pp. 661-673
    • Parkes, M.1    Cortes, A.2    Van Heel, D.A.3
  • 30
    • 58149089639 scopus 로고    scopus 로고
    • IBD and IBD mimicking enterocolitis in children younger than 2 years of age
    • Cannioto Z, Berti I, Martelossi S, et al. IBD and IBD mimicking enterocolitis in children younger than 2 years of age. Eur Journal Pediatrics. 2009;168:149-155.
    • (2009) Eur Journal Pediatrics. , vol.168 , pp. 149-155
    • Cannioto, Z.1    Berti, I.2    Martelossi, S.3
  • 31
    • 33845272754 scopus 로고    scopus 로고
    • Characteristics of inflammatory bowel disease with onset during the first year of life
    • Ruemmele FM, El Khoury MG, Talbotec C, et al. Characteristics of inflammatory bowel disease with onset during the first year of life. J Pediatr Gastroenterol Nutr. 2006;43:603-609.
    • (2006) J Pediatr Gastroenterol Nutr. , vol.43 , pp. 603-609
    • Ruemmele, F.M.1    El Khoury, M.G.2    Talbotec, C.3
  • 32
    • 84858150678 scopus 로고    scopus 로고
    • A common genetic background could explain early-onset Crohn's disease
    • Bianco AM, Zanin V, Girardelli M, et al. A common genetic background could explain early-onset Crohn's disease. Med Hypotheses. 2012;78:520-522.
    • (2012) Med Hypotheses. , vol.78 , pp. 520-522
    • Bianco, A.M.1    Zanin, V.2    Girardelli, M.3
  • 33
    • 70949087383 scopus 로고    scopus 로고
    • Inflammatory bowel disease and mutations affecting the interleukin-10 receptor
    • Glocker EO, Kotlarz D, Boztug K, et al. Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. N Engl J Med. 2009;361:2033-2045.
    • (2009) N Engl J Med. , vol.361 , pp. 2033-2045
    • Glocker, E.O.1    Kotlarz, D.2    Boztug, K.3
  • 34
    • 80052825195 scopus 로고    scopus 로고
    • The functional spectrum of lowfrequency coding variation
    • Marth GT, Yu F, Indap AR, et al. The functional spectrum of lowfrequency coding variation. Genome Biol. 2011;12:R84.
    • (2011) Genome Biol. , vol.12 , pp. R84
    • Marth, G.T.1    Yu, F.2    Indap, A.R.3
  • 35
    • 84863556835 scopus 로고    scopus 로고
    • Evolution and functional impact of rare coding variation from deep sequencing of human exomes
    • Tennessen JA, Bigham AW, O'Connor TD, et al. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science. 2012.
    • (2012) Science.
    • Tennessen, J.A.1    Bigham, A.W.2    O'Connor, T.D.3
  • 36
    • 33747454249 scopus 로고    scopus 로고
    • Distinct phenotype of early childhood inflammatory bowel disease
    • Paul T, Birnbaum A, Pal DK, et al. Distinct phenotype of early childhood inflammatory bowel disease. J Clin Gastroenterol. 2006;40:583-586.
    • (2006) J Clin Gastroenterol. , vol.40 , pp. 583-586
    • Paul, T.1    Birnbaum, A.2    Pal, D.K.3
  • 37
    • 0034464007 scopus 로고    scopus 로고
    • Linkage heterogeneity for the IBD1 locus in Crohn's disease pedigrees by disease onset and severity
    • Brant SR, Panhuysen CI, Bailey-Wilson JE, et al. Linkage heterogeneity for the IBD1 locus in Crohn's disease pedigrees by disease onset and severity. Gastroenterology. 2000;119:1483-1490.
    • (2000) Gastroenterology , vol.119 , pp. 1483-1490
    • Brant, S.R.1    Panhuysen, C.I.2    Bailey-Wilson, J.E.3
  • 38
    • 33646061100 scopus 로고    scopus 로고
    • Analysis of the influence of OCTN1/2 variants within the IBD5 locus on disease susceptibility and growth indices in early onset inflammatory bowel disease
    • Russell RK, Drummond HE, Nimmo ER, et al. Analysis of the influence of OCTN1/2 variants within the IBD5 locus on disease susceptibility and growth indices in early onset inflammatory bowel disease. Gut. 2006;55:1114-1123.
    • (2006) Gut. , vol.55 , pp. 1114-1123
    • Russell, R.K.1    Drummond, H.E.2    Nimmo, E.R.3
  • 39
    • 33845989525 scopus 로고    scopus 로고
    • IBD5 is associated with an extensive complicated Crohn's disease feature: Implications from genotypephenotype analysis
    • Brescianini S, Trinh T, Stoll M, et al. IBD5 is associated with an extensive complicated Crohn's disease feature: implications from genotypephenotype analysis. Gut. 2007;56:149-150.
    • (2007) Gut. , vol.56 , pp. 149-150
    • Brescianini, S.1    Trinh, T.2    Stoll, M.3
  • 40
    • 34548651642 scopus 로고    scopus 로고
    • Genetic susceptibility has a more important role in pediatric-onset Crohn's disease than in adultonset Crohn's disease
    • De Ridder L, Weersma RK, Dijkstra G, et al. Genetic susceptibility has a more important role in pediatric-onset Crohn's disease than in adultonset Crohn's disease. Inflamm Bowel Dis. 2007;13:1083-1092.
    • (2007) Inflamm Bowel Dis. , vol.13 , pp. 1083-1092
    • De Ridder, L.1    Weersma, R.K.2    Dijkstra, G.3
  • 41
    • 84862990205 scopus 로고    scopus 로고
    • Age-dependent TLR3 expression of the intestinal epithelium contributes to rotavirus susceptibility
    • Pott J, Stockinger S, Torow N, et al. Age-dependent TLR3 expression of the intestinal epithelium contributes to rotavirus susceptibility. PLoS Pathogens. 2012;8:e1002670.
    • (2012) PLoS Pathogens. , vol.8 , pp. e1002670
    • Pott, J.1    Stockinger, S.2    Torow, N.3
  • 42
    • 84881071061 scopus 로고    scopus 로고
    • Identification of an age-dependent biomarker signature in children and adolescents with autism spectrum disorders
    • Ramsey JM, Guest PC, Broek JA, et al. Identification of an age-dependent biomarker signature in children and adolescents with autism spectrum disorders. Mol Autism. 2013;4:27.
    • (2013) Mol Autism. , vol.4 , pp. 27
    • Ramsey, J.M.1    Guest, P.C.2    Broek, J.A.3
  • 43
    • 79955074075 scopus 로고    scopus 로고
    • Higher clearance of micafungin in neonates compared with adults: Role of age-dependent micafungin serum binding
    • Yanni SB, Smith PB, Benjamin DK Jr, et al. Higher clearance of micafungin in neonates compared with adults: role of age-dependent micafungin serum binding. Biopharm Drug Dispos. 2011;32:222-232.
    • (2011) Biopharm Drug Dispos. , vol.32 , pp. 222-232
    • Yanni, S.B.1    Smith, P.B.2    Benjamin, D.K.3
  • 44
    • 80054742849 scopus 로고    scopus 로고
    • Association of paediatric inflammatory bowel disease with other immune-mediated diseases
    • Kappelman MD, Galanko JA, Porter CQ, et al. Association of paediatric inflammatory bowel disease with other immune-mediated diseases. Arch Dis Child. 2011;96:1042-1046.
    • (2011) Arch Dis Child. , vol.96 , pp. 1042-1046
    • Kappelman, M.D.1    Galanko, J.A.2    Porter, C.Q.3
  • 45
    • 79959524439 scopus 로고    scopus 로고
    • Comorbidity in inflammatory bowel disease
    • Roman AL, Munoz F. Comorbidity in inflammatory bowel disease. World J Gastroenterol. 2011;17:2723-2733.
    • (2011) World J Gastroenterol. , vol.17 , pp. 2723-2733
    • Roman, A.L.1    Munoz, F.2
  • 46
    • 0036001231 scopus 로고    scopus 로고
    • Differences between children and adults in thiopurine methyltransferase activity and metabolite formation during thiopurine therapy: Possible role of concomitant methotrexate
    • Pettersson B, Almer S, Albertioni F, et al. Differences between children and adults in thiopurine methyltransferase activity and metabolite formation during thiopurine therapy: possible role of concomitant methotrexate. Ther Drug Monit. 2002;24:351-358.
    • (2002) Ther Drug Monit. , vol.24 , pp. 351-358
    • Pettersson, B.1    Almer, S.2    Albertioni, F.3
  • 47
    • 70349974546 scopus 로고    scopus 로고
    • Established genetic risk factors do not distinguish early and later onset Crohn's disease
    • Essers JB, Lee JJ, Kugathasan S, et al. Established genetic risk factors do not distinguish early and later onset Crohn's disease. Inflamm Bowel Dis. 2009;15:1508-1514.
    • (2009) Inflamm Bowel Dis. , vol.15 , pp. 1508-1514
    • Essers, J.B.1    Lee, J.J.2    Kugathasan, S.3
  • 48
    • 84867141964 scopus 로고    scopus 로고
    • No small matter: Qualitatively distinct challenges of pediatric genomic studies
    • Kohane IS. No small matter: qualitatively distinct challenges of pediatric genomic studies. Genome Med. 2011;3:62.
    • (2011) Genome Med. , vol.3 , pp. 62
    • Kohane, I.S.1
  • 50
    • 73149123343 scopus 로고    scopus 로고
    • Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
    • Choi M, Scholl U, Ji W, et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A. 2009;106:19096-19101.
    • (2009) Proc Natl Acad Sci U S A. , vol.106 , pp. 19096-19101
    • Choi, M.1    Scholl, U.2    Ji, W.3
  • 51
    • 80054731104 scopus 로고    scopus 로고
    • Inflammatory skin and bowel disease linked to ADAM17 deletion
    • Blaydon DC, Biancheri P, Di WL, et al. Inflammatory skin and bowel disease linked to ADAM17 deletion. N Engl J Med. 2011;365:1502-1508.
    • (2011) N Engl J Med. , vol.365 , pp. 1502-1508
    • Blaydon, D.C.1    Biancheri, P.2    Di, W.L.3
  • 52
    • 84864206050 scopus 로고    scopus 로고
    • Loss of interleukin-10 signaling and infantile inflammatory bowel disease: Implications for diagnosis and therapy
    • Kotlarz D, Beier R, Murugan D, et al. Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy. Gastroenterology. 2012;143:347-355.
    • (2012) Gastroenterology , vol.143 , pp. 347-355
    • Kotlarz, D.1    Beier, R.2    Murugan, D.3
  • 53
    • 84861570833 scopus 로고    scopus 로고
    • NADPH oxidase complex and IBD candidate gene studies: Identification of a rare variant in NCF2 that results in reduced binding to RAC2
    • Muise A, Xu W, Guo C, et al. NADPH oxidase complex and IBD candidate gene studies: identification of a rare variant in NCF2 that results in reduced binding to RAC2. Gut. 2012;61:1028-1035.
    • (2012) Gut. , vol.61 , pp. 1028-1035
    • Muise, A.1    Xu, W.2    Guo, C.3
  • 54
    • 80054975975 scopus 로고    scopus 로고
    • Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease
    • Rivas MA, Beaudoin M, Gardet A, et al. Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nat Genetics. 2011;43:1066-1073.
    • (2011) Nat Genetics. , vol.43 , pp. 1066-1073
    • Rivas, M.A.1    Beaudoin, M.2    Gardet, A.3
  • 55
    • 84879685851 scopus 로고    scopus 로고
    • Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes
    • Christodoulou K, Wiskin AE, Gibson J, et al. Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes. Gut. 2012.
    • (2012) Gut.
    • Christodoulou, K.1    Wiskin, A.E.2    Gibson, J.3
  • 56
    • 84880923909 scopus 로고    scopus 로고
    • Extended haplotype association study in Crohn's disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-kappaB pathway gene, HEATR3
    • Zhang W, Hui KY, Gusev A, et al. Extended haplotype association study in Crohn's disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-kappaB pathway gene, HEATR3. Genes Immun. 2013;14:310-316.
    • (2013) Genes Immun. , vol.14 , pp. 310-316
    • Zhang, W.1    Hui, K.Y.2    Gusev, A.3
  • 57
    • 84873733916 scopus 로고    scopus 로고
    • IL-10R polymorphisms are associated with very-early-onset ulcerative colitis
    • Moran CJ, Walters TD, Guo CH, et al. IL-10R polymorphisms are associated with very-early-onset ulcerative colitis. Inflamm Bowel Dis. 2013;19:115-123.
    • (2013) Inflamm Bowel Dis. , vol.19 , pp. 115-123
    • Moran, C.J.1    Walters, T.D.2    Guo, C.H.3
  • 58
    • 84890117448 scopus 로고    scopus 로고
    • Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing
    • Dinwiddie DL, Bracken JM, Bass JA, et al. Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing. Genomics. 2013;102:442-447.
    • (2013) Genomics. , vol.102 , pp. 442-447
    • Dinwiddie, D.L.1    Bracken, J.M.2    Bass, J.A.3
  • 59
    • 78651225855 scopus 로고    scopus 로고
    • Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease
    • Momozawa Y, Mni M, Nakamura K, et al. Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease. Nat Genet. 2011;43:43-47.
    • (2011) Nat Genet. , vol.43 , pp. 43-47
    • Momozawa, Y.1    Mni, M.2    Nakamura, K.3
  • 60
    • 84864461405 scopus 로고    scopus 로고
    • LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency
    • Alangari A, Alsultan A, Adly N, et al. LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency. J Allergy Clin Immunol. 2012;130:481-488.e482.
    • (2012) J Allergy Clin Immunol. , vol.130 , pp. 481-488e482
    • Alangari, A.1    Alsultan, A.2    Adly, N.3
  • 61
    • 70350451062 scopus 로고    scopus 로고
    • A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity
    • Matute JD, Arias AA, Wright NA, et al. A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity. Blood. 2009;114:3309-3315.
    • (2009) Blood , vol.114 , pp. 3309-3315
    • Matute, J.D.1    Arias, A.A.2    Wright, N.A.3
  • 62
    • 84880617946 scopus 로고    scopus 로고
    • Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies
    • Ellinghaus D, Zhang H, Zeissig S, et al. Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies. Gastroenterology. 2013;145:339-347.
    • (2013) Gastroenterology , vol.145 , pp. 339-347
    • Ellinghaus, D.1    Zhang, H.2    Zeissig, S.3
  • 63
    • 84884683078 scopus 로고    scopus 로고
    • Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis
    • Beaudoin M, Goyette P, Boucher G, et al. Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis. Plos Genet. 2013;9:e1003723.
    • (2013) Plos Genet. , vol.9 , pp. e1003723
    • Beaudoin, M.1    Goyette, P.2    Boucher, G.3
  • 64
    • 2442585704 scopus 로고    scopus 로고
    • Functional variants of OCTN cation transporter genes are associated with Crohn disease
    • Peltekova VD, Wintle RF, Rubin LA, et al. Functional variants of OCTN cation transporter genes are associated with Crohn disease. Nat Genet. 2004;36:471-475.
    • (2004) Nat Genet. , vol.36 , pp. 471-475
    • Peltekova, V.D.1    Wintle, R.F.2    Rubin, L.A.3
  • 65
    • 84886730022 scopus 로고    scopus 로고
    • Targeted resequencing identifies defective variants of decoy receptor 3 in pediatric-onset inflammatory bowel disease
    • Cardinale CJ, Wei Z, Panossian S, et al. Targeted resequencing identifies defective variants of decoy receptor 3 in pediatric-onset inflammatory bowel disease. Genes Immun. 2013;14:447-452.
    • (2013) Genes Immun. , vol.14 , pp. 447-452
    • Cardinale, C.J.1    Wei, Z.2    Panossian, S.3
  • 66
    • 84896492362 scopus 로고    scopus 로고
    • Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease
    • Avitzur Y, Guo C, Mastropaolo LA, et al. Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease. Gastroenterology. 2014.
    • (2014) Gastroenterology
    • Avitzur, Y.1    Guo, C.2    Mastropaolo, L.A.3
  • 67
    • 79251645624 scopus 로고    scopus 로고
    • Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease
    • Worthey E, Mayer A, Syverson G, et al. Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet Med. 2011;13:255-262.
    • (2011) Genet Med. , vol.13 , pp. 255-262
    • Worthey, E.1    Mayer, A.2    Syverson, G.3
  • 68
    • 84900303379 scopus 로고    scopus 로고
    • Exome sequencing identifies a novel FOXP3 mutation in a two-generation family with inflammatory bowel disease
    • Okou DT, Mondal K, Faubion WA, et al. Exome sequencing identifies a novel FOXP3 mutation in a two-generation family with inflammatory bowel disease. J Pediatr Gastroenterol Nutr. 2014. doi:10.1097/MPG. 0000000000000302 [epub ahead of print].
    • (2014) J Pediatr Gastroenterol Nutr.
    • Okou, D.T.1    Mondal, K.2    Faubion, W.A.3
  • 69
    • 70350622704 scopus 로고    scopus 로고
    • Frequency of indeterminate colitis in children and adults with IBD: A metaanalysis
    • Prenzel F, Uhlig HH. Frequency of indeterminate colitis in children and adults with IBD: a metaanalysis. J Crohns Colitis. 2009;3:277-281.
    • (2009) J Crohns Colitis. , vol.3 , pp. 277-281
    • Prenzel, F.1    Uhlig, H.H.2
  • 70
    • 84887421132 scopus 로고    scopus 로고
    • Monogenic diseases associated with intestinal inflammation: Implications for the understanding of inflammatory bowel disease
    • Uhlig HH. Monogenic diseases associated with intestinal inflammation: implications for the understanding of inflammatory bowel disease. Gut. 2013;62:1795-1805.
    • (2013) Gut. , vol.62 , pp. 1795-1805
    • Uhlig, H.H.1
  • 71
    • 3543067962 scopus 로고    scopus 로고
    • Neurodegenerative disorders associated with diabetes mellitus
    • Ristow M. Neurodegenerative disorders associated with diabetes mellitus. J Molecular Medicine. 2004;82:510-529.
    • (2004) J Molecular Medicine. , vol.82 , pp. 510-529
    • Ristow, M.1
  • 72
    • 28144437017 scopus 로고    scopus 로고
    • Mutations of the Nogo-66 receptor (RTN4R) gene in schizophrenia
    • Sinibaldi L, De Luca A, Bellacchio E, et al. Mutations of the Nogo-66 receptor (RTN4R) gene in schizophrenia. Hum Mutat. 2004;24:534-535.
    • (2004) Hum Mutat. , vol.24 , pp. 534-535
    • Sinibaldi, L.1    De Luca, A.2    Bellacchio, E.3


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