Abreu MT, Taylor KD, Lin Y-C et al (2002) Mutations in NOD2 are associated with fibrostenosing disease in patients with Crohn’s disease. Gastroenterology 123:679–688. https://doi.org/10.1053/gast.2002.35393

Article  CAS  Google Scholar 

Agarwala V, Flannick J, Sunyaev S, Altshuler D (2013) Evaluating empirical bounds on complex disease genetic architecture. Nat Genet 45:1418–1427. https://doi.org/10.1038/NG.2804

Article  CAS  Google Scholar 

Anderson CA, Boucher G, Lees CW et al (2011) Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nat Genet 43:246–252. https://doi.org/10.1038/NG.764

Article  CAS  Google Scholar 

Annese V, Piepoli A, Latiano A et al (2005) HLA-DRB1 alleles may influence disease phenotype in patients with inflammatory bowel disease: a critical reappraisal with review of the literature. Dis Colon Rectum 48:57–64. https://doi.org/10.1007/s10350-004-0747-0

Article  CAS  Google Scholar 

Babb De Villiers C, Kroese M, Moorthie S (2020) Understanding polygenic models, their development and the potential application of polygenic scores in healthcare. J Med Genet 57:725–732. https://doi.org/10.1136/JMEDGENET-2019-106763

Article  Google Scholar 

Barrett JC, Hansoul S, Nicolae DL et al (2008) Genome-wide association defines more than 30 distinct susceptibility loci for Crohn’s disease. Nat Genet 40:955–962. https://doi.org/10.1038/NG.175

Article  CAS  Google Scholar 

Barrett JC, Lee JC, Lees CW et al (2009) Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. Nat Genet 41:1330–1334. https://doi.org/10.1038/NG.483

Article  CAS  Google Scholar 

Borren NZ, Conway G, Garber JJ et al (2018) Differences in clinical course, genetics, and the microbiome between familial and sporadic inflammatory bowel diseases. J Crohn’s Colitis 12:525–531. https://doi.org/10.1093/ECCO-JCC/JJX154

Article  Google Scholar 

Bouma G, Oudkerk Pool M, Crusius JB et al (1997) Evidence for genetic heterogeneity in inflammatory bowel disease (IBD); HLA genes in the predisposition to suffer from ulcerative colitis (UC) and Crohn’s disease (CD). Clin Exp Immunol 109:175–179. https://doi.org/10.1046/j.1365-2249.1997.4121510.x

Article  CAS  Google Scholar 

Brant SR, Okou DT, Simpson CL et al (2017) Genome-wide association study identifies african-specific susceptibility loci in African Americans with inflammatory bowel disease. Gastroenterology 152:206-217.e2. https://doi.org/10.1053/J.GASTRO.2016.09.032

Article  CAS  Google Scholar 

Brant SR, Picco MF, Achkar J-P et al (2003) Defining complex contributions of NOD2/CARD15 gene mutations, age at onset, and tobacco use on Crohn’s disease phenotypes. Inflamm Bowel Dis 9:281–289. https://doi.org/10.1097/00054725-200309000-00001

Article  Google Scholar 

Burton PR, Clayton DG, Cardon LR et al (2007) Genome-wide association study of 14,000 cases of seven common diseases and 3000 shared controls. Nature 447:661–678. https://doi.org/10.1038/NATURE05911

Article  CAS  Google Scholar 

Cardon LR, Bell JI (2001) Association study designs for complex diseases. Nat Rev Genet 2:91–99. https://doi.org/10.1038/35052543

Article  CAS  Google Scholar 

Cavanaugh JA, Bryce ME, Stanford PM et al (2001) International collaboration provides convincing linkage replication in complex disease through analysis of a large pooled data set: Crohn disease and chromosome 16. Am J Hum Genet 68:1165–1171. https://doi.org/10.1086/320119

Article  CAS  Google Scholar 

Chatterjee N, Wheeler B, Sampson J et al (2013) Projecting the performance of risk prediction based on polygenic analyses of genome-wide association studies. Nature Genet 45(4):400–405. https://doi.org/10.1038/ng.2579

Article  CAS  Google Scholar 

Chen G-B, Lee SH, Brion M-JA et al (2014) Estimation and partitioning of (co)heritability of inflammatory bowel disease from GWAS and immunochip data. Hum Mol Genet 23:4710–4720. https://doi.org/10.1093/HMG/DDU174

Article  CAS  Google Scholar 

Chen G-B, Lee SH, Montgomery GW et al (2017) Performance of risk prediction for inflammatory bowel disease based on genotyping platform and genomic risk score method. BMC Med Genet. https://doi.org/10.1186/S12881-017-0451-2

Article  Google Scholar 

Choi SW, Mak TS-H, O’Reilly PF (2020) Tutorial: a guide to performing polygenic risk score analyses. Nature Protoc 15(9):2759–2772. https://doi.org/10.1038/s41596-020-0353-1

Article  CAS  Google Scholar 

Cleynen I, Boucher G, Jostins L et al (2016) Inherited determinants of Crohn’s disease and ulcerative colitis phenotypes: a genetic association study. Lancet (london, England) 387:156–167. https://doi.org/10.1016/S0140-6736(15)00465-1

Article  Google Scholar 

Cleynen I, González JR, Figueroa C et al (2013) Genetic factors conferring an increased susceptibility to develop Crohn’s disease also influence disease phenotype: results from the IBDchip European Project. Gut 62:1556–1565. https://doi.org/10.1136/gutjnl-2011-300777

Article  CAS  Google Scholar 

Cleynen I, Halfvarsson J (2019) How to approach understanding complex trait genetics - inflammatory bowel disease as a model complex trait. Unit Europ Gastroenterol J 7:1426–1430. https://doi.org/10.1177/2050640619891120

Article  CAS  Google Scholar 

Cleynen I, Vermeire S (2015) The genetic architecture of inflammatory bowel disease: past, present and future. Curr Opin Gastroenterol 31:456–463. https://doi.org/10.1097/MOG.0000000000000215

Article  CAS  Google Scholar 

Crowley E, Warner N, Pan J et al (2020) Prevalence and clinical features of inflammatory bowel diseases associated with monogenic variants, identified by whole-exome sequencing in 1000 children at a single center. Gastroenterology 158:2208–2220. https://doi.org/10.1053/J.GASTRO.2020.02.023

Article  CAS  Google Scholar 

Cuthbert AP, Fisher SA, Mirza MM et al (2002) The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease. Gastroenterology 122:867–874. https://doi.org/10.1053/gast.2002.32415

Article  CAS  Google Scholar 

de Lange KM, Moutsianas L, Lee JC et al (2017) Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. Nat Genet 49:256–261. https://doi.org/10.1038/NG.3760

Article  Google Scholar 

DeLisi LE (2016) A case for returning to multiplex families for further understanding the heritability of schizophrenia: a psychiatrist’s perspective. Mole Neuropsychiatry 2:15–19. https://doi.org/10.1159/000442820

Article  Google Scholar 

Duerr RH, Taylor KD, Brant SR et al (2006) A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science (new York, NY) 314:1461–1463. https://doi.org/10.1126/SCIENCE.1135245

Article  CAS  Google Scholar 

Ellinghaus D, Zhang H, Zeissig S et al (2013) Association between variants of PRDM1 and NDP52 and Crohn’s disease, based on exome sequencing and functional studies. Gastroenterology 145:339–347. https://doi.org/10.1053/J.GASTRO.2013.04.040

Article  CAS  Google Scholar 

Frade-Proud’hon-Clerc S, Smol T, Frenois F et al (2019) A novel rare missense variation of the NOD2 gene: evidencesof implication in crohn’s disease. Intern J Mole Sci. https://doi.org/10.3390/IJMS20040835

Article  Google Scholar 

Franke A, McGovern DPB, Barrett JC et al (2010) Genome-wide meta-analysis increases to 71 the number of confirmed Crohn’s disease susceptibility loci. Nat Genet 42:1118–1125. https://doi.org/10.1038/NG.717

Article  CAS  Google Scholar 

Freeman HJ (2014) Natural history and long-term clinical course of Crohn’s disease. World J Gastroenterol 20:31–36. https://doi.org/10.3748/WJG.V20.I1.31

Article  Google Scholar 

Gomollón F, Dignass A, Annese V et al (2017) 3rd European evidence-based consensus on the diagnosis and management of crohn’s disease 2016: part 1: diagnosis and medical management. J Crohn’s Colitis 11:3–25. https://doi.org/10.1093/ECCO-JCC/JJW168

Article  Google Scholar 

Guan Q (2019) A Comprehensive review and update on the pathogenesis of inflammatory bowel disease. J Immunol Res. https://doi.org/10.1155/2019/7247238

Article  Google Scholar 

Hampe J, Franke A, Rosenstiel P et al (2007) A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1. Nat Genet 39:207–211. https://doi.org/10.1038/NG1954

Article  CAS  Google Scholar 

Hampe J, Grebe J, Nikolaus S et al (2002) Association of NOD2 (CARD 15) genotype with clinical course of Crohn’s disease: a cohort study. Lancet 359:1661–1665. https://doi.org/10.1016/S0140-6736(02)08590-2

Article  CAS  Google Scholar 

Hong M, Ye BD, Yang SK et al (2018) Immunochip meta-analysis of inflammatory bowel disease identifies three novel loci and four novel associations in previously reported loci. J Crohn’s Colitis 12:730–741. https://doi.org/10.1093/ECCO-JCC/JJY002

Article  Google Scholar 

Huang H, Fang M, Jostins L et al (2017) Fine-mapping inflammatory bowel disease loci to single-variant resolution. Nature 547:173–178. https://doi.org/10.1038/NATURE22969

Article  CAS  Google Scholar 

Hübenthal M, Löscher B-S, Erdmann J et al (2021) Current developments of clinical sequencing and the clinical utility of polygenic risk scores in inflammatory diseases. Front Immunol. https://doi.org/10.3389/FIMMU.2020.577677

Article  Google Scholar 

Hugot JP, Chamaillard M, Zouali H et al (2001) Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn’s disease. Nature 411:599–603. https://doi.org/10.1038/35079107

Article  CAS  Google Scholar 

Hugot J-P, Laurent-Puig P, Gower-Rousseaut C et al (1996) Mapping of a susceptibility locus for Crohn’s disease on chromosome. Nature 379:821

Article  CAS  Google Scholar 

Hunt KA, Mistry V, Bockett NA et al (2013) Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature 498:232–235. https://doi.org/10.1038/NATURE12170

Article  CAS  Google Scholar 

Jezernik G, Mičetić-Turk D, Potočnik U (2020) Molecular genetic architecture of monogenic pediatric IBD differs from complex pediatric and adult IBD. J Personal Med 10:1–18. https://doi.org/10.3390/JPM10040243

Article  Google Scholar 

Jostins L, Ripke S, Weersma RK et al (2012) Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature 491:119–124. https://doi.org/10.1038/NATURE11582

Article  CAS  Google Scholar 

Khera AV, Chaffin M, Aragam KG et al (2018) Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations. Nat Genet 50:1219–1224. https://doi.org/10.1038/S41588-018-0183-Z

Article