Genetics of inflammatory bowel diseases: A comparison between Western and Eastern perspectives

Journal of Gastroenterology and Hepatology (Australia)

Volumn 28, Issue 2, 2013, Pages 220-226

  Cheon, Jae Hee ^a  

^a Yonsei University   (South Korea)

Author keywords

Crohn's disease; Epigenetics; Genetics; Immunomodulator; Inflammatory bowel disease; Ulcerative colitis

Indexed keywords

AZATHIOPRINE; IMMUNOMODULATING AGENT; INTERLEUKIN 23 RECEPTOR; MERCAPTOPURINE;

ARTICLE; ASIAN; ATOPHAGY GENE; CAUCASIAN; EASTERN HEMISPHERE; ENTERITIS; EPIGENETIC REPRESSION; ETHNIC DIFFERENCE; GENE; GENETIC VARIABILITY; GENETICS; HUMAN; NOCASPASE RECRUITMENT DOMAIN PROTEIN 15 GENE; PATHOGENESIS; PHARMACOGENETICS; PHENOTYPE; PRIORITY JOURNAL; TH17 CELL; TUMOR NECROSIS FACTOR SUPERFAMILY 15 GENE; WESTERN HEMISPHERE;

EID: 84872801655     PISSN: 08159319     EISSN: 14401746     Source Type: Journal    
DOI: 10.1111/jgh.12053     Document Type: Article

References (61)

1. Xavier RJ, Podolsky DK. Unravelling the pathogenesis of inflammatory bowel disease. Nature 2007; 448: 427-434.
2. Abraham C, Medzhitov R. Interactions between the host innate immune system and microbes in inflammatory bowel disease. Gastroenterology 2011; 140: 1729-1737.
3. Khor B, Gardet A, Xavier RJ. Genetics and pathogenesis of inflammatory bowel disease. Nature 2011; 474: 307-317.
4. Ng SC, Tsoi KK, Kamm MA etal. Genetics of inflammatory bowel disease in Asia: systematic review and meta-analysis. Inflamm. Bowel Dis. 2012; 18: 1164-1176.
5. Yang SK, Loftus EV Jr, Sandborn WJ. Epidemiology of inflammatory bowel disease in Asia. Inflamm. Bowel Dis. 2001; 7: 260-270.
6. Thia KT, Loftus EV Jr, Sandborn WJ, Yang SK. An update on the epidemiology of inflammatory bowel disease in Asia. Am. J. Gastroenterol. 2008; 103: 3167-3182.
7. Yang SK, Yun S, Kim JH etal. Epidemiology of inflammatory bowel disease in the Songpa-Kangdong district, Seoul, Korea, 1986-2005: a KASID study. Inflamm. Bowel Dis. 2008; 14: 542-549.
8. Brant SR. Update on the heritability of inflammatory bowel disease: the importance of twin studies. Inflamm. Bowel Dis. 2011; 17: 1-5.
9. Park JB, Yang SK, Byeon JS etal. Familial occurrence of inflammatory bowel disease in Korea. Inflamm. Bowel Dis. 2006; 12: 1146-1151.
10. Probert CS, Jayanthi V, Hughes AO, Thompson JR, Wicks AC, Mayberry JF. Prevalence and family risk of ulcerative colitis and Crohn's disease: an epidemiological study among Europeans and south Asians in Leicestershire. Gut 1993; 34: 1547-1551.
11. Peeters M, Nevens H, Baert F etal. Familial aggregation in Crohn's disease: increased age-adjusted risk and concordance in clinical characteristics. Gastroenterology 1996; 111: 597-603.
12. Orholm M, Munkholm P, Langholz E etal. Familial occurrence of inflammatory bowel disease. N. Engl. J. Med. 1991; 324: 84-88.
13. Satsangi J, Rosenberg WMC, Jewell DP. The prevalence of inflammatory bowel disease in relatives of patients with Crohn's disease. Eur. J. Gastroenterol. Hepatol. 1994; 6: 413-416.
14. Russell RK, Satsangi J. IBD: a family affair. Best Pract. Res. Clin. Gastroenterol. 2004; 18: 525-539.
15. Croucher PJ, Mascheretti S, Hampe J etal. Haplotype structure and association to Crohn's disease of CARD15 mutations in two ethnically divergent populations. Eur. J. Hum. Genet. 2003; 11: 6-16.
16. Inoue N, Tamura K, Kinouchi Y etal. Lack of common NOD2 variants in Japanese patients with Crohn's disease. Gastroenterology 2002; 123: 86-91.
17. Lee GH, Kim CG, Kim JS, Jung HC, Song IS. Frequency analysis of NOD2 gene mutations in Korean patients with Crohn's disease. Korean J. Gastroenterol. 2005; 45: 162-168.
18. Yamazaki K, Onouchi Y, Takazoe M, Kubo M, Nakamura Y, Hata A. Association analysis of genetic variants in IL23R, ATG16L1 and 5p13.1 loci with Crohn's disease in Japanese patients. J. Hum. Genet. 2007; 52: 575-583.
19. Yang SK, Park M, Lim J etal. Contribution of IL23R but not ATG16L1 to Crohn's disease susceptibility in Koreans. Inflamm. Bowel Dis. 2009; 15: 1385-1390.
20. Libioulle C, Louis E, Hansoul S etal. Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4. PLoS Genet. 2007; 3: e58.
21. Hradsky O, Dusatkova P, Lenicek M etal. The CTLA4 variants may interact with the IL23R- and NOD2-conferred risk in development of Crohn's disease. BMC Med. Genet. 2010; 11: 91-100.
22. Moon CM, Shin DJ, Kim SW etal. Associations between genetic variants in the IRGM gene and inflammatory bowel diseases in the Korean population. Inflamm. Bowel Dis. 2012; doi: 10.1002/ibd.22972.
23. Yang SK, Lim J, Chang HS etal. Association of TNFSF15 with Crohn's disease in Koreans. Am. J. Gastroenterol. 2008; 103: 1437-1442.
24. Franke A, Balschun T, Karlsen TH etal. Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis. Nat. Genet. 2008; 40: 713-715.
25. Wang K, Baldassano R, Zhang H etal. Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects. Hum. Mol. Genet. 2010; 19: 2059-2067.
26. Haritunians T, Taylor K, Targan SR etal. Genetic predictors of medically refractory ulcerative colitis. Inflamm. Bowel Dis. 2012; 16: 1830-1840.
27. Yang SK, Jung Y, Hong M etal. No association between TNFSF15 and IL23R with ulcerative colitis in Koreans. J. Hum. Genet. 2011; 56: 200-204.
28. Bin C, Zhirong Z, Xiaoqin W etal. Contribution of rs11465788 in IL23R gene to Crohn's disease susceptibility and phenotype in Chinese population. J. Genet. 2009; 88: 191-196.
29. Kim SW, Kim ES, Moon CM etal. Genetic polymorphisms of IL-23R and IL-17A and novel insights into their associations with inflammatory bowel disease. Gut 2011; 60: 1527-1536.
30. Schmechel S, Konrad A, Diegelmann J etal. Linking genetic susceptibility to Crohn's disease with Th17 cell function: IL-22 serum levels are increased in Crohn's disease and correlate with disease activity and IL23R genotype status. Inflamm. Bowel Dis. 2008; 14: 204-212.
31. Cho JH, Brant SR. Recent insights into the genetics of inflammatory bowel disease. Gastroenterology 2011; 140: 1704-1712.
32. Ogura Y, Bonen DK, Inohara N etal. A frame shift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 2001; 411: 603-606.
33. Economou M, Trikalinos TA, Loizou KT, Tsianos EV, Ioannidis JP. Differential effects of NOD2 variants on Crohn's disease risk and phenotype in diverse populations: a meta-analysis. Am. J. Gastroenterol. 2004; 99: 2393-2404.
34. Ye BD, Yang SK, Cho YK etal. Clinical features and long-term prognosis of Crohn's disease in Korea. Scand. J. Gastroenterol. 2010; 45: 1178-1185.
35. Zhang FR, Huang W, Chen SM etal. Genomewide association study of leprosy. N. Engl. J. Med. 2009; 361: 2609-2618.
36. Barrett JC, Hansoul S, Nicolae DL etal. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat. Genet. 2008; 40: 955-962.
37. Parkes M, Barrett JC, Prescott NJ etal. Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility. Nat. Genet. 2007; 39: 830-832.
38. Prescott NJ, Dominy KM, Kubo M etal. Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease. Hum. Mol. Genet. 2010; 19: 1828-1839.
39. Brest P, Lapaquette P, Souidi M etal. A synonymous variant in IRGM alters a binding site for miR-196 and causes deregulation of IRGM-dependent xenophagy in Crohn's disease. Nat. Genet. 2011; 43: 242-245.
40. Yamazaki K, McGovern D, Ragoussis J etal. Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's disease. Hum. Mol. Genet. 2005; 14: 3499-3506.
41. McGovern D, Powrie F. The IL23 axis plays a key role in the pathogenesis of IBD. Gut 2007; 56: 1333-1336.
42. Duerr RH, Taylor KD, Brant SR etal. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science 2006; 314: 1461-1463.
43. Momozawa Y, Mni M, Nakamura K etal. Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease. Nat. Genet. 2011; 43: 43-47.
44. Rivas MA, Beaudoin M, Gardet A etal. Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nat. Genet. 2011; 43: 1066-1073.
45. Wang K, Zhang H, Kugathasan S etal. Diverse genome-wide association studies associate the IL12/IL23 pathway with Crohn Disease. Am. J. Hum. Genet. 2009; 84: 399-405.
46. Remmers EF, Cosan F, Kirino Y etal. Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behcet's disease. Nat. Genet. 2010; 42: 698-702.
47. Mizuki N, Meguro A, Ota M etal. Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Behcet's disease susceptibility loci. Nat. Genet. 2010; 42: 703-706.
48. Kim ES, Kim SW, Moon CM etal. Interactions between IL17A, IL23R, and STAT4 polymorphisms confer susceptibility to intestinal Behcet's disease in Korean population. Life Sci. 2012; 90: 740-746.
49. Moon CM, Cheon JH, Kim SW etal. Association of signal transducer and activator of transcription 4 genetic variants with extra-intestinal manifestations in inflammatory bowel disease. Life Sci. 2010; 86: 661-667.
50. Hamilton JP. Epigenetics: principles and practice. Dig. Dis. 2011; 29: 130-135.
51. Scarpa M, Stylianou E. Epigenetics: concepts and relevance to IBD pathogenesis. Inflamm. Bowel Dis. 2012; 18: 1982-1996.
52. Hartnett L, Egan LJ. Inflammation, DNA methylation and colitis-associated cancer. Carcinogenesis 2012; 33: 723-731.
53. Nimmo ER, Prendergast JG, Aldhous MC etal. Genome-wide methylation profiling in Crohn's disease identifies altered epigenetic regulation of key host defense mechanisms including the Th17 pathway. Inflamm. Bowel Dis. 2012; 18: 889-899.
54. Kim SW, Kim ES, Moon CM, Kim TI, Kim WH, Cheon JH. Abnormal genetic and epigenetic changes in signal transducer and activator of transcription 4 in the pathogenesis of inflammatory bowel diseases. Dig. Dis. Sci. 2012; 57: 2600-2607.
55. Ansari A, Arenas M, Greenfield SM etal. Prospective evaluation of the pharmacogenetics of azathioprine in the treatment of inflammatory bowel disease. Aliment. Pharmacol. Ther. 2008; 28: 973-983.
56. Kim JH, Cheon JH, Hong SS etal. Influences of thiopurine methyltransferase genotype and activity on thiopurine-induced leukopenia in Korean patients with inflammatory bowel disease: a retrospective cohort study. J. Clin. Gastroenterol. 2010; 44: e242-248.
57. Kumagai K, Hiyama K, Ishioka S etal. Allelotype frequency of the thiopurine methyltransferase (TPMT) gene in Japanese. Pharmacogenetics 2001; 11: 275-278.
58. Cheon JH, Kim JH, Kim BY etal. Allele frequency of thiopurine methyltransferase and inosine triphosphate pyrophosphatase gene polymorphisms in Korean patients with inflammatory bowel diseases. Hepatogastroenterology 2009; 56: 421-423.
59. Cao H, Hegele RA. DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency. J. Hum. Genet. 2002; 47: 620-622.
60. Marinaki AM, Sumi S, Arenas M etal. Allele frequency of inosine triphosphate pyrophosphatase gene polymorphisms in a Japanese population. Nucleosides Nucleotides Nucleic Acids 2004; 23: 1399-1401.
61. Jung YS, Cheon JH, Park JJ etal. Correlation of genotypes for thiopurine methyltransferase and inosine triphosphate pyrophosphatase with long-term clinical outcomes in Korean patients with inflammatory bowel diseases during treatment with thiopurine drugs. J. Hum. Genet. 2010; 55: 121-123.