Polymorphisms in the inflammatory pathway genes TLR2, TLR4, TLR9, LY96, NFKBIA, NFKB1, TNFA, TNFRSF1A, IL6R, IL10, IL23R, PTPN22, and PPARG are associated with susceptibility of inflammatory bowel disease in a Danish cohort

PLoS ONE

Volumn 9, Issue 6, 2014, Pages

  Bank, Steffen ^a,b   Skytt Andersen, Paal ^c   Burisch, Johan ^d   Pedersen, Natalia ^d   Roug, Stine ^e   Galsgaard, Julie ^f   Ydegaard Turino, Stine ^g   Broder Brodersen, Jacob ^h   Rashid, Shaista ⁱ   Kaiser Rasmussen, Britt ^j   Avlund, Sara ^k   Bastholm Olesen, Thomas ^l   Jur̈gen Hoffmann, Hans ^k   Kragh Thomsen, Marianne ^k   Thomsen, Vibekesøtergaard ^c   Frydenberg, Morten ^m   Andersen Nexø, Bjørn ^b   Sode, Jacob ^c,n,o   Vogel, Ulla ^p   Andersen, Vibeke ^a,n,q,r  

^a VIBORG HOSPITAL   (Denmark)

^b AARHUS UNIVERSITY   (Denmark)

^c STATENS SERUM INSTITUT   (Denmark)

^d GENTOFTE UNIVERSITY HOSPITAL   (Denmark)

^e HVIDOVRE HOSPITAL   (Denmark)

^f KØGE HOSPITAL   (Denmark)

^g HILLERØD HOSPITAL   (Denmark)

^h ESBJERG HOSPITAL   (Denmark)

ⁱ BISPEBJERG HOSPITAL   (Denmark)

^j NYKØBING FALSTER HOSPITAL   (Denmark)

^k AARHUS UNIVERSITY HOSPITAL   (Denmark)

^l SLAGELSE HOSPITAL   (Denmark)

^m AARHUS UNIVERSITY   (Denmark)

ⁿ UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^o FREDERIKSBERG HOSPITAL   (Denmark)

^p NATIONAL RESEARCH CENTRE FOR THE WORKING ENVIRONMENT   (Denmark)

^q Hospital of Southern Jutland   (Denmark)

^r ODENSE UNIVERSITY HOSPITAL   (Denmark)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; DANISH; DISEASE PREDISPOSITION; DNA POLYMORPHISM; ETHNIC GROUP; FEMALE; GENE; GENE FREQUENCY; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IL10 GENE; IL23A GENE; IL6R GENE; INFLAMMATORY BOWEL DISEASE; LY96 GENE; MAJOR CLINICAL STUDY; MALE; NFKBI GENE; NFKBIA GENE; PPARG GENE; PTPN22 GENE; RISK FACTOR; RISK REDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; TLR2 GENE; TLR4 GENE; TLR9 GENE; TNFA GENE; TNFRSF1A GENE; AGED; CASE CONTROL STUDY; GENETICS; MIDDLE AGED;

IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; INTERLEUKIN DERIVATIVE; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE 22; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA; PTPN22 PROTEIN, HUMAN; TOLL LIKE RECEPTOR;

ADULT; AGED; CASE-CONTROL STUDIES; FEMALE; HUMANS; INFLAMMATORY BOWEL DISEASES; INTERLEUKINS; MALE; MIDDLE AGED; NF-KAPPA B; POLYMORPHISM, SINGLE NUCLEOTIDE; PPAR GAMMA; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 22; TOLL-LIKE RECEPTORS;

EID: 84903397357     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0098815     Document Type: Article

References (69)

1. Podolsky DK (2002) Inflammatory bowel disease. N Engl J Med 347:417-429.
2. Jostins L, Ripke S, Weersma RK, Duerr RH, McGovern DP, et al. (2012) Hostmicrobe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature 491:119-124.
3. Andersen V, Ernst A, Christensen J, Ostergaard M, Jacobsen BA, et al. (2010) The polymorphism rs3024505 proximal to IL-10 is associated with risk of ulcerative colitis and Crohns disease in a Danish case-control study. BMC Med Genet 11:82.
4. Ernst A, Jacobsen B, Ostergaard M, Okkels H, Andersen V, et al. (2007) Mutations in CARD15 and smoking confer susceptibility to Crohn's disease in the Danish population. Scand J Gastroenterol 1445-1451. (Pubitemid 350125541)
5. Ostergaard M, Ernst A, Labouriau R, Dagiliené E, Krarup HB, et al. (2009) Cyclooxygenase-2, multidrug resistance 1, and breast cancer resistance protein gene polymorphisms and inflammatory bowel disease in the Danish population. Scand J Gastroenterol 44:65-73.
6. Andersen V, Nimmo E, Krarup HB, Drummond H, Christensen J, et al. (2011) Cyclooxygenase-2 (COX-2) polymorphisms and risk of inflammatory bowel disease in a Scottish and Danish case-control study. Inflamm Bowel Dis 937-946.
7. Ernst A, Andersen V, Ostergaard M, Jacobsen BA, Pedersen IS, et al.(2011) Common polymorphisms in the microsomal epoxide hydrolase and N-acetyltransferase 2 genes in association with inflammatory bowel disease in the Danish population. Eur J Gastroenterol Hepatol 269-274.
8. Andersen V, Christensen J, Ernst A, Jacobsen BA, Tjønneland A, et al. (2011) Polymorphisms in NF-kappaB, PXR, LXR, PPARgamma and risk of inflammatory bowel disease. World J Gastroenterol 197-206.
9. Ellinghaus D, Zhang H, Zeissig S, Lipinski S, Till A, et al. (2013) Association Between Variants of PRDM1 and NDP52 and Crohn's Disease, Based on Exome Sequencing and Functional Studies. Gastroenterology 339-347.
10. Skieceviciene J, Kiudelis G, Ellinghaus E, Balschun T, Jonaitis LV, et al. (2013) Replication Study of Ulcerative Colitis Risk Loci in a Lithuanian-Latvian Case-Control Sample. Inflamm Bowel Dis 11:2349-2355.
11. Andersen V, Ernst A, Sventoraityte J, Kupcinskas L, Jacobsen BA, et al. (2011) Assessment of heterogeneity between European Populations: a Baltic and Danish replication case-control study of SNPs from a recent European ulcerative colitis genome wide association study. BMC Med Genet 12:139.
12. Muise AM, Walters T, Xu W, Shen-Tu G, Guo CH, et al. (2011) Single nucleotide polymorphisms that increase expression of the guanosine triphosphatase RAC1 are associated with ulcerative colitis. Gastroenterology 141:633-641.
13. Verstrepen L, Bekaert T, Chau TL, Tavernier J, Chariot A, et al. (2008) TLR-4, IL-1R and TNF-R signaling to NF-kappaB: variations on a common theme. Cell Mol Life Sci 65:2964-2978.
14. Gast A, Bermejo JL, Claus R, Brandt A, Weires M, et al. (2011) Association of inherited variation in Toll-like receptor genes with malignant melanoma susceptibility and survival. PLoS One 6:e24370.
15. Bank S, Nexo BA, Andersen V, Vogel U, Andersen PS (2013) High-Quality and -Quantity DNA Extraction from Frozen Archival Blood Clots for Genotyping of Single-Nucleotide Polymorphisms. Genet Test Mol Biomarkers 6:501-503.
16. Franke A, McGovern DP, Barrett JC, Wang K, Radford-Smith GL, et al. (2010) Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet 42:1118-1125.
17. Anderson CA, Boucher G, Lees CW, Franke A, D'Amato M, 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.
18. Andersen V, Christensen J, Ernst A, Jacobsen BA, Tjønneland A, et al. (2011) Polymorphisms in NF-kappaB, PXR, LXR, PPARgamma and risk of inflammatory bowel disease. World J Gastroenterol 17:197-206.
19. Cario E (2010) Toll-like receptors in inflammatory bowel diseases: a decade later. Inflamm Bowel Dis 16:1583-1597.
20. Sashio H, Tamura K, Ito R, Yamamoto Y, Bamba H, et al. (2002) Polymorphisms of the TNF gene and the TNF receptor superfamily member 1B gene are associated with susceptibility to ulcerative colitis and Crohn's disease, respectively. Immunogenetics 53:1020-1027. (Pubitemid 34275765)
21. Ferguson LR, Han DY, Huebner C, Petermann I, Barclay ML, et al. (2009) Tumor necrosis factor receptor superfamily, member 1B haplotypes increase or decrease the risk of inflammatory bowel diseases in a New Zealand caucasian population. Gastroenterol Res Pract 591704.
22. Kim EJ, Chung WC, Lee KM, Paik CN, Jung SH, et al. (2012) Association between toll-like receptors/CD14 gene polymorphisms and inflammatory bowel disease in Korean population. J Korean Med Sci 27:72-77.
23. Szamosi T, Lakatos PL, Szilvasi A, Lakatos L, Kovacs A, et al. (2009) The 39UTR NFKBIA variant is associated with extensive colitis in Hungarian IBD patients. Dig Dis Sci 54:351-359.
24. Klein W, Tromm A, Folwaczny C, Hagedorn M, Duerig N, et al. (2004) A polymorphism of the NFKBIA gene is associated with Crohn's disease patients lacking a predisposing allele of the CARD15 gene. Int J Colorectal Dis 19:153-156. (Pubitemid 38239837)
25. Hong J, Leung E, Fraser AG, Merriman TR, Vishnu P, et al. (2007) Polymorphisms in NFKBIA and ICAM-1 genes in New Zealand Caucasian Crohn's disease patients. J Gastroenterol Hepatol 22:1666-1670. (Pubitemid 47383338)
26. Zou YF, Wang F, Feng XL, Tao JH, Zhu JM, et al. (2011) Association of NFKB1 -94ins/delATTG promoter polymorphism with susceptibility to autoimmune and inflammatory diseases: a meta-analysis. Tissue Antigens 77:9-17.
27. Ferguson LR, Huebner C, Petermann I, Gearry RB, Barclay ML, et al. (2008) Single nucleotide polymorphism in the tumor necrosis factor-alpha gene affects inflammatory bowel diseases risk. World J Gastroenterol 14:4652-4661.
28. Gewirtz AT, Vijay-Kumar M, Brant SR, Duerr RH, Nicolae DL, et al. (2006) Dominant-negative TLR5 polymorphism reduces adaptive immune response to flagellin and negatively associates with Crohn's disease. Am J Physiol Gastrointest Liver Physiol 290:G1157-G1163. (Pubitemid 43788297)
29. Glas J (2008) Functional Toll-like receptor 5 gene variants are not associated with susceptibility to inflammatory bowel disease in the German population 46:41.
30. Fowler EV, Doecke J, Simms LA, Zhao ZZ, Webb PM, et al. (2008) ATG16L1 T300A shows strong associations with disease subgroups in a large Australian IBD population: further support for significant disease heterogeneity. Am J Gastroenterol 2519-2526.
31. Bielinski SJ, Hall JL, Pankow JS, Boerwinkle E, Matijevic-Aleksic N, et al. (2011) Genetic variants in TLR2 and TLR4 are associated with markers of monocyte activation: the Atherosclerosis Risk in Communities MRI Study. Hum Genet 129:655-662.
32. Zhang F, Gao XD, Wu WW, Gao Y, Zhang YW, et al. (2013) Polymorphisms in toll-like receptors 2, 4 and 5 are associated with Legionella pneumophila infection. Infection 41:941-948.
33. Hawn TR, Verbon A, Lettinga KD, Zhao LP, Li SS, et al. (2003) A common dominant TLR5 stop codon polymorphism abolishes flagellin signaling and is associated with susceptibility to legionnaires' disease. J Exp Med 198:1563-1572. (Pubitemid 37467170)
34. Tao K, Fujii M, Tsukumo S, Maekawa Y, Kishihara K, et al. (2007) Genetic variations of Toll-like receptor 9 predispose to systemic lupus erythematosus in Japanese population. Ann Rheum Dis 66:905-909. (Pubitemid 46999791)
35. Gu W, Shan YA, Zhou J, Jiang DP, Zhang L, et al. (2007) Functional significance of gene polymorphisms in the promoter of myeloid differentiation-2. Ann Surg 246:151-158. (Pubitemid 47012220)
36. Baldini M, Lohman IC, Halonen M, Erickson RP, Holt PG, et al. (1999) A Polymorphism*in the 59 flanking region of the CD14 gene is associated with circulating soluble CD14 levels and with total serum immunoglobulin E. Am J Respir Cell Mol Biol20:976-983. (Pubitemid 129540855)
37. Mertens J, Bregadze R, Mansur A, Askar E, Bickeböller H, et al. (2009 Functional impact of endotoxin receptor CD14 polymorphisms on transcriptional activity. J Mol Med (Berl) 87:815-824.
38. Thair SA, Walley KR, Nakada TA, McConechy MK, Boyd JH, et al. (2011) A single nucleotide polymorphism in NF-kappaB inducing kinase is associated with mortality in septic shock. J Immunol 186:2321-2328.
39. Guo D, Li M, Zhang Y, Yang P, Eckenrode S, et al. (2004) A functional variant of SUMO4, a new I kappa B alpha modifier, is associated with type 1 diabetes. Nat Genet 36:837-841. (Pubitemid 39014100)
40. Song S, Chen D, Lu J, Liao J, Luo Y, et al. (2011) NFkappaB1 and NFkappaBIA polymorphisms are associated with increased risk for sporadic colorectal cancer in a southern Chinese population. PLoS One 6:e21726.
41. Wang S, Zhang M, Zeng Z, Tian L, Wu K, et al. (2011) IkappaBalpha polymorphisms were associated with increased risk of gastric cancer in a southern Chinese population: a case-control study. Life Sci 88:792-797.
42. Vogel U, Jensen MK, Due KM, Rimm EB, Wallin H, et al. (2011) The NFKB1 ATTG ins/del polymorphism and risk of coronary heart disease in three independent populations. Atherosclerosis 219:200-204.
43. Park JY, Farrance IK, Fenty NM, Hagberg JM, Roth SM, et al. (2007) NFKB1 promoter variation implicates shear-induced NOS3 gene expression and endothelial function in prehypertensives and stage I hypertensives. Am J Physiol Heart Circ Physiol 293:H2320-H2327. (Pubitemid 47605877)
44. Udalova IA, Richardson A, Denys A, Smith C, Ackerman H, et al. (2000) Functional consequences of a polymorphism affecting NF-kappaB p50-p50 binding to the TNF promoter region. Mol Cell Biol 20:9113-9119. (Pubitemid 32246100)
45. Ahirwar DK, Kesarwani P, Singh R, Ghoshal UC, Mittal RD (2012) Role of tumor necrosis factor-alpha (C-863A) polymorphism in pathogenesis of inflammatory bowel disease in Northern India. J Gastrointest Cancer 43:196-204.
46. Lv K, Chen R, Cai Q, Fang M, Sun S (2006) Effects of a single nucleotide polymorphism on the expression of human tumor necrosis factor-alpha. Scand J Immunol 64:164-169. (Pubitemid 44034321)
47. Karimi M, Goldie LC, Cruickshank MN, Moses EK, Abraham LJ (2009) A critical assessment of the factors affecting reporter gene assays for promoter SNP function: a reassessment of 2308 TNF polymorphism function using a novel integrated reporter system. Eur J Hum Genet 17:1454-1462.
48. Kaluza W, Reuss E, Grossmann S, Hug R, Schopf RE, et al. (2000) Different transcriptional activity and in vitro TNF-alpha production in psoriasis patients carrying the TNF-alpha 238A promoter polymorphism. J Invest Dermatol 114:1180-1183. (Pubitemid 30415236)
49. Wang GB, Li CR, Yang J, Wen PQ, Jia SL (2011) A regulatory polymorphism in promoter region of TNFR1 gene is associated with Kawasaki disease in Chinese individuals. Hum Immunol 72:451-457.
50. Elsby LM, Orozco G, Denton J, Worthington J, Ray DW, et al. (2011) Functional evaluation of TNFAIP3 (A20) in rheumatoid arthritis. Clin Exp Rheumatol 28:708-714.
51. Yoshida M, Shiroiwa K, Mouri K, Ishiguro H, Supriyanto I, et al. (2012) Haplotypes in the expression quantitative trait locus of interleukin-1beta gene are associated with schizophrenia. Schizophr Res 140:185-191.
52. Chen H, Wilkins LM, Aziz N, Cannings C, Wyllie DH, et al. (2006) Single nucleotide polymorphisms in the human interleukin-1B gene affect transcription according to haplotype context. Hum Mol Genet 15:519-529. (Pubitemid 43205418)
53. Wen AQ, Gu W, Wang J, Feng K, Qin L, et al. (2010) Clinical relevance of IL-1beta promoter polymorphisms (2 1470, 2511, and 231) in patients with major trauma. Shock 33:576-582.
54. Lind H, Haugen A, Zienolddiny S (2007) Differential binding of proteins to the IL1B 231 T/C polymorphism in lung epithelial cells. Cytokine 38:43-48. (Pubitemid 46990924)
55. Rafiq S, Stevens K, Hurst AJ, Murray A, Henley W, et al. (2007) Common genetic variation in the gene encoding interleukin-1-receptor antagonist (IL-1RA) is associated with altered circulating IL-1RA levels. Genes Immun 8:344-351. (Pubitemid 46888042)
56. Carrol ED, Payton A, Payne D, Miyajima F, Chaponda M, et al. (2011) The IL1RN promoter rs4251961 correlates with IL-1 receptor antagonist concentrations in human infection and is differentially regulated by GATA-1. J Immunol 186:2329-2335.
57. Wallis SK, Cooney LA, Endres JL, Lee MJ, Ryu J, et al. (2011) A polymorphism in the interleukin-4 receptor affects the ability of interleukin-4 to regulate Th17 cells: a possible immunoregulatory mechanism for genetic control of the severity of rheumatoid arthritis. Arthritis Res Ther 13:R15.
58. Smith AJ, D'Aiuto F, Palmen J, Cooper JA, Samuel J, et al. (2008) Association of serum interleukin-6 concentration with a functional IL6 -6331T>C polymorphism. Clin Chem 54:841-850. (Pubitemid 351671601)
59. Rafiq S, Frayling TM, Murray A, Hurst A, Stevens K, et al. (2007) A common variant of the interleukin 6 receptor (IL-6r) gene increases IL-6r and IL-6 levels, without other inflammatory effects. Genes Immun 8:552-559. (Pubitemid 350011687)
60. Rees LE, Wood NA, Gillespie KM, Lai KN, Gaston K, et al. (2002) The interleukin-10-1082 G/A polymorphism: allele frequency in different populations and functional significance. Cell Mol Life Sci 59:560-569. (Pubitemid 34267396)
61. Franke A, Balschun T, Karlsen TH, Sventoraityte J, Nikolaus S, et al.(2008) Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility. Nat Genet 40:1319-1323.
62. Espinoza JL, Takami A, Nakata K, Onizuka M, Kawase T, et al. (2011) A genetic variant in the IL-17 promoter is functionally associated with acute graft-versus-host disease after unrelated bone marrow transplantation. PLoS One 6:e26229.
63. Oosting M, ter Hofstede H, van de Veerdonk FL, Sturm P, Kullberg BJ, et al. (2011) Role of interleukin-23 (IL-23) receptor signaling for IL-17 responses in human Lyme disease. Infect Immun 79: 4681-4687.
64. Pravica V, Perrey C, Stevens A, Lee JH, Hutchinson IV (2000) A single nucleotide polymorphism in the first intron of the human IFN-gamma gene: absolute correlation with a polymorphic CA microsatellite marker of high IFN-gamma production. Hum Immunol 61:863-866.
65. Shah R, Hurley CK, Posch PE (2006) A molecular mechanism for the differential regulation of TGF-beta1 expression due to the common SNP -509C-T (c. -1347C > T). Hum Genet 120:461-469. (Pubitemid 44669781)
66. Kariuki SN, Crow MK, Niewold TB (2008) The PTPN22 C1858T polymorphism is associated with skewing of cytokine profiles toward high interferon-alpha activity and low tumor necrosis factor alpha levels in patients with lupus. Arthritis Rheum 58:2818-2823.
67. Aoyagi Y, Nagata S, Kudo T, Fujii T, Wada M, et al. (2010) Peroxisome proliferator-activated receptor gamma 2 mutation may cause a subset of ulcerative colitis. Pediatr Int 52:729-734.
68. Poliska S, Penyige A, Lakatos PL, Papp M, Palatka K, et al. (2012) Association of peroxisome proliferator-activated receptor gamma polymorphisms with inflammatory bowel disease in a Hungarian cohort. Inflamm Bowel Dis 18:472-479.
69. Hitomi Y, Ebisawa M, Tomikawa M, Imai T, Komata T, et al. (2009) Associations of functional NLRP3 polymorphisms with susceptibility to food-induced anaphylaxis and aspirin-induced asthma. J Allergy Clin Immunol 124:779-785.