Association of FCGR2A, JAK2 or HNF4A variants with ulcerative colitis in Koreans

Digestive and Liver Disease

Volumn 43, Issue 11, 2011, Pages 856-861

  Yang, Suk Kyun ^a   Jung, Yusun ^a   Kim, Hyeri ^a   Hong, Myunghee ^a   Ye, Byong Duk ^a   Song, Kyuyoung ^a  

^a University of Ulsan College of Medicine   (South Korea)

Author keywords

FCGR2A; HNF4A; JAK2; Korean; Ulcerative colitis

Indexed keywords

GENOMIC DNA; HEPATOCYTE NUCLEAR FACTOR 4ALPHA; JANUS KINASE 2; PROTEIN; PROTEIN FCGR2A; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; ASIAN; CONTROLLED STUDY; CROHN DISEASE; FEMALE; GENE FREQUENCY; GENE LOCUS; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; KOREAN; MAJOR CLINICAL STUDY; MALE; PATHOGENESIS; PRIORITY JOURNAL; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM; ULCERATIVE COLITIS;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHLORIDE-BICARBONATE ANTIPORTERS; COLITIS, ULCERATIVE; CROHN DISEASE; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HEPATOCYTE NUCLEAR FACTOR 4; HUMANS; JANUS KINASE 2; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, IGG; REPUBLIC OF KOREA; SEX FACTORS; YOUNG ADULT;

EID: 80052928178     PISSN: 15908658     EISSN: 18783562     Source Type: Journal    
DOI: 10.1016/j.dld.2011.07.006     Document Type: Article

References (48)

1. Xavier R.J., Podolsky D.K. Unravelling the pathogenesis of inflammatory bowel disease. Nature 2007, 448:427-434.
2. Yang H., McElree C., Roth M.P., et al. Familial empirical risks for inflammatory bowel disease: differences between Jews and non-Jews. Gut 1993, 34:517-524.
3. Park J.B., Yang S.K., Byeon J.S., et al. Familial occurrence of inflammatory bowel disease in Korea. Inflamm Bowel Dis 2006, 12:1146-1151.
4. 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.
5. Hugot J.-P., Chamaillard M., Zouali H., et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 2001, 411:599-603.
6. Ogura Y., Bonen D.K., Inohara N., et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 2001, 411:603-606.
7. Yamazaki K., McGovern D., Ragoussis J., et al. Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's disease. Hum Mol Genet 2005, 14:3499-3506.
8. Duerr R.H., Taylor K.D., Brant S.R., et al. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science 2006, 314:1461-1463.
9. Rioux J.D., Xavier R.J., Taylor K.D., et al. Genome-wide association study identifies new susceptibility loci for Crohn's disease and implicates autophage in disease pathogenesis. Nat Genet 2007, 39:596-604.
10. Hampe J., Franke A., Rosenstiel P., et al. A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn's disease in ATG16L1. Nat Genet 2007, 39:207-211.
11. The Wellcome Trust Case Control Consortium Genome-wide association study of 14,000 cases of seven common diseases and 3000 shared controls. Nature 2007, 447:661-678.
12. Parkes M., Barrett J.C., Prescott N.J., et al. Sequence variants in the autophage gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility. Nat Genet 2007, 39:830-832.
13. Fisher S.A., Tremelling M., Anderson C.A., et al. Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease. Nat Genet 2008, 40:710-712.
14. Franke A., Balschun T., Karlsen T.H., et al. Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility. Nat Genet 2008, 40:1319-1323.
15. Asano K., Matsushita T., Umeno J., et al. A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population. Nat Genet 2009, 41:1325-1329.
16. UK IBD genetics consortium and the WTCCC Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. Nat Genet 2009, 41:1330-1334.
17. McGovern D.P., Gardet A., Törkvist L., et al. Genome-wide association identifies multiple ulcerative colitis susceptibility loci. Nat Genet 2010, 42:332-337.
18. Silverberg M.S., Cho J.H., Rioux J.D., et al. Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. Nat Genet 2009, 41:216-220.
19. Franke A., McGovern D.P.B., Barrett J.C., et al. Genome-wide association increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet 2010, 42:1118-1125.
20. Anderson C.A., Boucher G., Lees C.W., 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.
21. Anderson C.A., Massey D.C., Barrett J.C., et al. Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship. Gastroenterology 2009, 136:523-529.
22. Franke A., Balschun T., Karlsen T.H., et al. Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis. Nat Genet 2008, 40:713-715.
23. Thompson A.I., Lees C.W. Genetics of ulcerative colitis. Inflamm Bowel Dis 2011, 17:831-848.
24. Inoue N., Tamura K., Kinouchi Y., et al. Lack of common NOD2 variants in Japanese patients with Crohn's disease. Gastroenterology 2002, 123:86-91.
25. Leong R.W., Armuzzi A., Ahmad T., et al. NOD2/CARD15 gene polymorphisms and Crohn's disease in the Chinese population. Aliment Pharmacol Ther 2003, 17:1465-1470.
26. Croucher P.J., Mascheretti S., Hampe J., et al. Haplotype structure and association to Crohn's disease of CARD15 mutations in two ethnically divergent populations. Eur J Hum Genet 2003, 11:6-16.
27. Yamazaki K., Takazoe M., Tanaka T., et al. Association analysis of SLC22A4, SLC22A5 and DLG5 in Japanese patients with Crohn disease. J Hum Genet 2004, 49:664-668.
28. Yamazaki K., Onouchi Y., Takazoe M., et al. 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.
29. Yang S.K., Park M., Lim J., et al. Contribution of IL23R but not ATG16L1 to Crohn's disease susceptibility in Koreans. Inflamm Bowel Dis 2009, 15:1385-1390.
30. Kakuta Y., Kinouchi Y., Negoro K., et al. Association study of TNFSF15 polymorphisms in Japanese patients with inflammatory bowel disease. Gut 2006, 55:1527-1528.
31. Yang S.K., Lim J., Chang H.S., et al. Association of TNFSF15 with Crohn's disease in Koreans. Am J Gastroenterol 2008, 103:1437-1442.
32. Picornell Y., Mei L., Taylor K., et al. TNFSF15 is an ethnic-specific IBD gene. Inflamm Bowel Dis 2007, 13:1333-1338.
33. Lennard-Jones J.E. Classification of inflammatory bowel disease. Scand J Gastroenterol 1989, 170(Suppl.):2-6.
34. Park S.H., Kim Y.M., Yang S.K., et al. Clinical features and natural history of ulcerative colitis in Korea. Inflamm Bowel Dis 2007, 13:278-283.
35. Ye B.D., Yang S.K., Cho Y.K., et al. Clinical features and long-term prognosis of Crohn's disease in Korea. Scand J Gastroenterol 2010, 45:1178-1185.
36. Silverberg M.S., Satsangi J., Ahmad T., et al. Toward an integrated clinical, molecular and serological classification of inflammatory bowel disease: report of a Working Party of the 2005 Montreal World Congress of Gastroenterology. Can J Gastroenterol 2005, 19(Suppl A):5-36.
37. Purcell S., Neale B., Todd-Brown K., et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007, 81:559-575.
38. Weersma R.K., Crusius J.B., Roberts R.L., et al. Association of FcgR2a, but not FcgR3a, with inflammatory bowel diseases across three Caucasian populations. Inflamm Bowel Dis 2010, 16:2080-2089.
39. Lu J., Marnell L.L., Marjon K.D., et al. Structural recognition and functional activation of FcγR by innate pentraxins. Nature 2008, 456:989-992.
40. Clark M.R., Clarkson S.B., Ory P.A., et al. Molecular basis for a polymorphism involving Fc receptor II on human monocyte. J Immunol 1989, 143:1731-1734.
41. Salmon J.E., Millard S., Schachter L.A., et al. Fc gamma RIIA alleles are heritable risk factors for lupus nephritis in African Americans. J Clin Invest 1996, 97:1348-1354.
42. Harley J.B., Alarcón-Riquelme M.E., et al. Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat Genet 2008, 40:204-210. SLEGEN.
43. Barrett J.C., Hansoul S., Nicolae D.L., et al. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat Genet 2008, 40:955-962.
44. Sladek F.M., Zhong W.M., Lai E., et al. Liver-enriched transcription factor HNF-4 is a novel member of the steroid hormone receptor superfamily. Genes Dev 1990, 4:2353-2365.
45. Ahn S.-H., Shah Y.M., Inoue J., et al. Hepatocyte nuclear factor 4α in the intestinal epithelial cells protects against inflammatory bowel disease. Inflamm Bowel Dis 2008, 14:908-920.
46. Cattin A.-L., Le Beyec J., Barreau F., et al. Hepatocyte nuclear factor 4α, a key factor for homeostasis, cell architecture, and barrier function of adult intestinal epithelium. Mol Cell Biol 2009, 29:6294-6308.
47. Yamagata K., Furuta H., Oda N., et al. Mutations in the hepatocyte nuclear factor-4-alpha gene in maturity-onset diabetes of the young (MODY1). Nature 1996, 384:458-460.
48. Barroso I., Luan J., Wheeler E., et al. Population-specific risk of type 2 diabetes conferred by HNF4A P2 promoter variants: a lesson for replication studies. Diabetes 2008, 57:3161-3165.