IGR2096a_1 T and IGR2198a_1 C alleles on IBD5 locus of chromosome 5q31 region confer risk for Crohn's disease in Hungarian patients

International Journal of Colorectal Disease

Volumn 24, Issue 5, 2009, Pages 503-507

  Lakner, Lilla ^a   Csöngei, Veronika ^b   Sarlós, Patrícia ^b   Járomi, Luca ^b   Sáfrány, Enikö ^b   Varga, Márta ^c   Orosz, Péter ^d   Magyari, Lili ^b   Bene, Judit ^b   Miheller, Pál ^e   Tulassay, Zsolt ^e   Melegh, Béla ^b  

^a Markusovszky Teaching Hospital   (Hungary)

^b UNIVERSITY OF PÉCS   (Hungary)

^c Rethy Pal Hospital   (Hungary)

^d University Teaching Hospital   (Hungary)

^e SEMMELWEIS UNIVERSITY   (Hungary)

Author keywords

Crohn's disease; Hungarian; IGR; SLC22A4; SLC22A5

Indexed keywords

CYSTEINE; GENE PRODUCT; GLYCINE; PROTEIN IBD5; PROTEIN IGR2096A 1; PROTEIN IGR2198A 1; THREONINE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CAUCASIAN; CHROMOSOME 5Q; CONTROLLED STUDY; CROHN DISEASE; FEMALE; GENE FREQUENCY; GENE LOCUS; GENETIC RISK; GENETIC SUSCEPTIBILITY; HAPLOTYPE; HUMAN; HUMAN TISSUE; HUNGARY; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RISK ASSESSMENT; RISK FACTOR; ULCERATIVE COLITIS;

ADULT; ALLELES; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 5; COLITIS, ULCERATIVE; CROHN DISEASE; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HUNGARY; MALE;

EID: 63649092983     PISSN: 01791958     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00384-009-0670-x     Document Type: Article

References (39)

1. Podolsky DK (2002) Inflammatory bowel disease. N Engl J Med 347:417-429
2. Weersma RK, van Dullemen HM, van der SG et al (2007) Review article: inflammatory bowel disease and genetics. Aliment Pharmacol Ther 26 Suppl 2:57-65
3. Karban AEliakim R (2007) Effect of smoking on inflammatory bowel disease: Is it disease or organ specific? World J Gastroenterol 13:2150-2152
4. Lakatos PL, Szamosi T, Lakatos L (2007) Smoking in inflammatory bowel diseases: Good, bad or ugly? World J Gastroenterol 13:6134-6139
5. Ferguson LR, Shelling AN, Browning BL, Huebner C, Petermann I (2007) Genes, diet and inflammatory bowel disease. Mutat Res 622:70-83
6. Rogala L, Miller N, Graff LA et al (2008) Population-based controlled study of social support, self-perceived stress, activity and work issues, and access to health care in inflammatory bowel disease. Inflamm Bowel Dis 14:526-535
7. Jantchou P, Monnet E, Carbonnel F (2006) Environmental risk factors in Crohn's disease and ulcerative colitis (excluding tobacco and appendicectomy). Gastroenterol Clin Biol 30:859-867
8. Siminovitch KA (2006) Advances in the molecular dissection of inflammatory bowel disease. Semin Immunol 18:244-253
9. Rioux JD, Silverberg MS, Daly MJ et al (2000) Genomewide search in Canadian families with inflammatory bowel disease reveals two novel susceptibility loci. Am J Hum Genet 66:1863-1870
10. Ma Y, Ohmen JD, Li Z et al (1999) A genome-wide search identifies potential new susceptibility loci for Crohn's disease. Inflamm Bowel Dis 5:271-278
11. Peltekova VD, Wintle RF, Rubin LA et al (2004) Functional variants of OCTN cation transporter genes are associated with Crohn disease. Nat Genet 36:471-475
12. Silverberg MS, Duerr RH, Brant SR et al (2007) Refined genomic localization and ethnic differences observed for the IBD5 association with Crohn's disease. Eur J Hum Genet 15:328-335
13. Sartor RB (2006) Mechanisms of disease: Pathogenesis of Crohn's disease and ulcerative colitis. Nat Clin Pract Gastroenterol Hepatol 3:390-407
14. Crawford NP, Colliver DW, Funke AA et al (2005) Characterization of genotype-phenotype relationships and stratification by the CARD15 variant genotype for inflammatory bowel disease susceptibility loci using multiple short tandem repeat genetic markers. Hum Mutat 25:156-166
15. Buning C, Geerdts L, Fiedler T et al (2006) DLG5 variants in inflammatory bowel disease. Am J Gastroenterol 101:786-792
16. Cucchiara S, Latiano A, Palmieri O et al (2007) Role of CARD15, DLG5 and OCTN genes polymorphisms in children with inflammatory bowel diseases. World J Gastroenterol 13:1221-1229
17. Ferraris A, Torres B, Knafelz D et al (2006) Relationship between CARD15, SLC22A4/5, and DLG5 polymorphisms and early-onset inflammatory bowel diseases: An Italian multicentric study. Inflamm Bowel Dis 12:355-361
18. Glas J, Seiderer J, Wetzke M et al (2007) rs1004819 is the main disease-associated IL23R variant in German Crohn's disease patients: combined analysis of IL23R, CARD15, and OCTN1/2 variants. PLoS ONE2:e819
19. 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
20. Prescott NJ, Fisher SA, Franke A et al (2007) A nonsynonymous SNP in ATG16L1 predisposes to ileal Crohn's disease and is independent of CARD15 and IBD5. Gastroenterology 132:1665-1671
21. Raelson JV, Little RD, Ruether A et al (2007) Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci. Proc Natl Acad Sci U S A 104:14747-14752
22. Rioux JD, Xavier RJ, Taylor KD et al (2007) Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nat Genet 39:596-604
23. Fisher SA, Hampe J, Onnie CM et al (2006) Direct or indirect association in a complex disease: The role of SLC22A4 and SLC22A5 functional variants in Crohn disease. Hum Mutat 27:778-785
24. Negoro K, McGovern DP, Kinouchi Y et al (2003) Analysis of the IBD5 locus and potential gene-gene interactions in Crohn's disease. Gut 52:541-546
25. Waller S, Tremelling M, Bredin F et al (2006) Evidence for association of OCTN genes and IBD5 with ulcerative colitis. Gut 55:809-814
26. Torok HP, Glas J, Tonenchi L et al (2005) Polymorphisms in the DLG5 and OCTN cation transporter genes in Crohn's disease. Gut 54:1421-1427
27. Gazouli M, Mantzaris G, Archimandritis AJ, Nasioulas G, Anagnou NP (2005) Single nucleotide polymorphisms of OCTN1, OCTN2, and DLG5 genes in Greek patients with Crohn's disease. World J Gastroenterol 11:7525-7530
28. Newman B, Gu X, Wintle R et al (2005) A risk haplotype in the Solute Carrier Family 22A4/22A5 gene cluster influences phenotypic expression of Crohn's disease. Gastroenterology 128:260-269
29. Palmieri O, Latiano A, Valvano R et al (2006) Variants of OCTN1-2 cation transporter genes are associated with both Crohn's disease and ulcerative colitis. Aliment Pharmacol Ther 23:497-506
30. Leung E, Hong J, Fraser AG et al (2006) Polymorphisms in the organic cation transporter genes SLC22A4 and SLC22A5 and Crohn's disease in a New Zealand Caucasian cohort. Immunol Cell Biol 84:233-236
31. Noble CL, Nimmo ER, Drummond H et al (2005) The contribution of OCTN1/2 variants within the IBD5 locus to disease susceptibility and severity in Crohn's disease. Gastroenterology 129:1854-1864
32. Russell RK, Drummond HE, Nimmo ER et al (2006) 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 55:1114-1123
33. Urcelay E, Mendoza JL, Martinez A et al (2005) IBD5 polymorphisms in inflammatory bowel disease: Association with response to infliximab. World J Gastroenterol 11:1187-1192
34. Torkvist L, Noble CL, Lordal M et al (2007) Contribution of the IBD5 locus to Crohn's disease in the Swedish population. Scand J Gastroenterol 42:200-206
35. Vermeire S, Pierik M, Hlavaty T et al (2005) Association of organic cation transporter risk haplotype with perianal penetrating Crohn's disease but not with susceptibility to IBD. Gastroenterology 129:1845-1853
36. Bene J, Magyari L, Talian G et al (2006) Prevalence of SLC22A4, SLC22A5 and CARD15 gene mutations in Hungarian pediatric patients with Crohn's disease. World J Gastroenterol 12:5550-5553
37. Magyari L, Bene J, Komlosi K et al (2007) Prevalence of SLC22A4 1672T and SLC22A5 -207C combination defined TC haplotype in Hungarian ulcerative colitis patients. Pathol Oncol Res 13:53-56
38. Tosa M, Negoro K, Kinouchi Y et al (2006) Lack of association between IBD5 and Crohn's disease in Japanese patients demonstrates population-specific differences in inflammatory bowel disease. Scand J Gastroenterol 41:48-53
39. Nadasi E, Gyurus P, Czako M et al (2007) Comparison of mtDNA haplogroups in Hungarians with four other European populations: A small incidence of descents with Asian origin. Acta Biol Hung 58:245-256