Extraintestinal manifestations and complications in inflammatory bowel disease: From shared genetics to shared biological pathways

Inflammatory Bowel Diseases

Volumn 20, Issue 6, 2014, Pages 987-994

  Van Sommeren, Suzanne ^a   Janse, Marcel ^a   Karjalainen, Juha ^a   Fehrmann, Rudolf ^a   Franke, Lude ^a   Fu, Jingyuan ^a   Weersma, Rinse K ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

Biological pathways; Complications; Extraintestinal manifestations; Genetic risk; Inflammatory bowel disease

Indexed keywords

ANKYLOSING SPONDYLITIS; ARTICLE; CLINICAL FEATURE; COLORECTAL CARCINOMA; DATA BASE; DEEP VEIN THROMBOSIS; EXTRAINTESTINAL MANIFESTATION; GALLSTONE; GENE LOCUS; GENE MAPPING; GENETIC ASSOCIATION; GENETIC RISK; HUMAN; INFLAMMATORY BOWEL DISEASE; MALABSORPTION; NEPHROLITHIASIS; OSTEOPOROSIS; PRIMARY SCLEROSING CHOLANGITIS; PRIORITY JOURNAL; CHOLANGITIS, SCLEROSING; CHROMOSOME MAP; COLORECTAL NEOPLASMS; COMPLICATION; EPIDEMIOLOGY; GALLSTONES; GENETIC PREDISPOSITION; GENETICS; INFLAMMATORY BOWEL DISEASES; RISK FACTOR; SPONDYLITIS, ANKYLOSING; VENOUS THROMBOSIS;

CHOLANGITIS, SCLEROSING; CHROMOSOME MAPPING; COLORECTAL NEOPLASMS; GALLSTONES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFLAMMATORY BOWEL DISEASES; NEPHROLITHIASIS; RISK FACTORS; SPONDYLITIS, ANKYLOSING; VENOUS THROMBOSIS;

EID: 84902196111     PISSN: 10780998     EISSN: 15364844     Source Type: Journal    
DOI: 10.1097/MIB.0000000000000032     Document Type: Article

References (51)

1. Podolsky DK. Inflammatory bowel disease. N Engl J Med. 2002; 347: 417-429. (Pubitemid 34851835)
2. Rothfuss KS, Stange EF, Herrlinger KR Extraintestinal manifestations and complications in inflammatory bowel diseases. World J Gastroenterol. 2006; 12: 4819-4831. (Pubitemid 44323206)
3. Zhernakova A, van Diemen CC, Wijmenga C. Detecting shared patho-genesis from the shared genetics of immune-related diseases. Nat Rev Genet. 2009; 10: 43-55.
4. Jostins L, Ripke S, Weersma R.K., et al Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature. 2012; 491: 119-124.
5. Hof JR, Keitel V, Laerdahl J.K., et al Mutational characterization of the bile acid receptor TGR5 in primary sclerosing cholangitis. PLoS One. 2010; 5:e12403.
6. Rossin EJ, Lage K, Raychaudhuri S., et al Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology. PLoS Genet. 2011; 7:e1001273.
7. Lage K, Karlberg EO, Størling ZM, et al A human phenome-interactome network of protein complexes implicated in genetic disorders. Nat Bio-technol. 2007; 25: 309-316. (Pubitemid 46402863)
8. Huang da W., Sherman BT, Lempicki RA Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nat Protoc. 2009; 4: 44-57.
9. Kanehisa M, Goto S. KEGG: kyoto encyclopedia of genes and genomes. Nucleic Acids Res. 2000; 28: 27-30. (Pubitemid 30047706)
10. Houlston RS, Cheadle J, Dobbins S.E., et al Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorec-tal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. Nat Genet. 2010; 42: 973-977.
11. Cui R, Okada Y, Jang S.G., et al Common variant in 6q26-q27 is associated with distal colon cancer in an Asian population. Gut. 2011; 60: 799-805.
12. Tomlinson IP, Webb E, Carvajal-Carmona L, et al A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat Genet. 2008; 40: 623-630. (Pubitemid 351601204)
13. Houlston RS, Webb E, Broderick P., et al Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. Nat Genet. 2008; 40: 1426-1435.
14. Tomlinson IP, Webb E, Carvajal-Carmona L, et al A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21. Nat Genet. 2007; 39: 984-988. (Pubitemid 47185182)
15. Zanke BW, Greenwood CM, Rangrei J, et al Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24. Nat Genet. 2007; 39: 989-994. (Pubitemid 47185183)
16. Tenesa A, Farrington SM, Prendergast J.G., et al Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nat Genet. 2008; 40: 631-637. (Pubitemid 351601219)
17. Jaeger E, Webb E, Howarth K., et al Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk. Nat Genet. 2008; 40: 26-28.
18. Broderick P, Carvajal-Carmona L, Pittman A.M., et al A genome-wide association study shows that common alleles of SMAD7 influence colo-rectal cancer risk. Nat Genet. 2007; 39: 1315-1317. (Pubitemid 350034998)
19. Styrkarsdottir U, Halldorsson BV, Gretarsdottir S, et al Multiple genetic loci for bone mineral density and fractures. N Engl J Med. 2008; 358: 2355-2365. (Pubitemid 351749159)
20. Rivadeneira F, Styrkarsdottir U, Estrada K., et al Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. Nat Genet. 2009; 41: 1199-1206.
21. Cho YS, Go MJ, Kim Y.J., et al A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits. Nat Genet. 2009; 41: 527-534.
22. Richards JB, Rivadeneira F, Inouye M., et al Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study. Lancet. 2008; 371: 1505-1512.
23. Guo Y, Zhang LS, Yang T.L., et al IL21R and PTH may underlie variation of femoral neck bone mineral density as revealed by a genome-wide association study. J Bone Miner Res. 2010; 25: 1042-1048.
24. Timpson NJ, Tobias JH, Richards J.B., et al Common variants in the region around Osterix are associated with bone mineral density and growth in childhood. Hum Mol Genet. 2009; 18: 1510-1517.
25. Styrkarsdottir U, Halldorsson BV, Gretarsdottir S, et al New sequence variants associated with bone mineral density. Nat Genet. 2009; 41: 15-17.
26. Xiong DH, Liu XG, Guo Y.F., et al Genome-wide association and follow-up replication studies identified ADAMTS18 and TGFBR3 as bone mass candidate genes in different ethnic groups. Am J Hum Genet. 2009; 84: 388-398.
27. Kung AW, Xiao SM, Cherny S, et al Association of JAG1 with bone mineral density and osteoporotic fractures: a genome-wide association study and follow-up replication studies. Am J Hum Genet. 2010; 86: 229-239.
28. Evans DM, Spencer CC, Pointon J.J., et al Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. Nat Genet. 2011; 43: 761-767.
29. Australo-Anglo-American Spondyloarthritis Consortium (TASC), Reveille JD, Sims AM, et al. Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. Nat Genet. 2010; 42: 123-127.
30. Danoy P, Pryce K, Hadler J., et al Association of variants at 1q32 and STAT3 with ankylosing spondylitis suggests genetic overlap with Crohn's disease. PLoS Genet. 2010; 6:e1001195.
31. Wellcome Trust Case Control Consortium, Burton PR, Clayton DG, et al. Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet. 2007; 39: 1329-1337. (Pubitemid 350041542)
32. Folseraas T, Melum E, Raush P., et al Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci. J Hepatol. 2012; 57: 366-375.
33. Janse M, Lamberts LE, Franke L, et al Three ulcerative colitis susceptibility loci are associated with primary sclerosing cholangitis and indicate a role for IL2, REL, and CARD9. Hepatology. 2011; 53: 1977-1985.
34. Melum E, Franke A, Schramm C., et al Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci. Nat Genet. 2011; 43: 17-19.
35. Karlsen TH, Franke A, Melum E., et al Genome-wide association analysis in primary sclerosing cholangitis. Gastroenterology. 2010; 138: 1102-1111.
36. Buch S, Schafmayer C, Völzke H, et al A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. Nat Genet. 2007; 39: 995-999. (Pubitemid 47185186)
37. Thorleifsson G, Holm H, Edvardsson V., et al Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density. Nat Genet. 2009; 41: 926-930.
38. Trégouët DA, Heath S, Saut N, et al. Common susceptibility alleles are unlikely to contribute as strongly as the FV and ABO loci to VTE risk: results from a GWAS approach. Blood. 2009; 113: 5298-5303.
39. van Roy F., Berx G. The cell-cell adhesion molecule E-cadherin. Cell Mol Life Sci. 2008; 65: 3756-3788.
40. Turner JR. Intestinal mucosal barrier function in health and disease. Nat Rev Immunol. 2009; 9: 799-809.
41. Massagué J, Blain SW, Lo RS. TGFbeta signaling in growth control, cancer, and heritable disorders. Cell. 2000; 103: 295-309.
42. van Dekken H., Wink JC, Vissers K.J., et al Wnt pathway-related gene expression during malignant progression in ulcerative colitis. Acta Histo-chem. 2007; 109: 266-272. (Pubitemid 46962077)
43. Häusler K.D., Horwood NJ, Chuman Y, et al Secreted frizzled-related protein-1 inhibits RANKL-dependent osteoclast formation. J Bone Miner Res. 2004; 19: 1873-1881. (Pubitemid 41103439)
44. Franke A, McGovern DP, Barrett J.C., et al Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet. 2010; 42: 1118-1125.
45. Tilg H, Moschen AR, Kaser A, et al Gut, inflammation and osteoporosis: basic and clinical concepts. Gut. 2008; 57: 684-694. (Pubitemid 351579985)
46. Sanseau P, Agarwal P, Barnes M.R., et al Use of genome-wide association studies for drug repositioning. Nat Biotechnol. 2012; 30: 317-320.
47. Ghosh S, Goldin E, Gordon F.H., et al Natalizumab for active Crohn's disease. N Engl J Med. 2003; 348: 24-32. (Pubitemid 36026343)
48. O'Shea J.J., Gadina M, Schreiber RD Cytokine signaling in 2002: new surprises in the Jak/Stat pathway. Cell. 2002; 109:S121-S131. (Pubitemid 34457857)
49. Hughes PD, Belz GT, Fortner K.A., et al Apoptosis regulators Fas and Bim cooperate in shutdown of chronic immune responses and prevention of autoimmunity. Immunity. 2008; 28: 197-205. (Pubitemid 351215234)
50. Chang SC, Momburg F, Bhutani N., et al The ER aminopeptidase ERAP1, trims precursors to length of MHC class I peptides by a "molecular ruler" mechanism. Proc Natl Acad Sci USA. 2005; 102: 17107-17112. (Pubitemid 41692691)
51. Liu JZ, Hov JR, Folseraas T, et al Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis. Nat Genet. 2013; 45: 670-675.