Home| Professor of Gastrointestinal Genetics |
Publications since 2001
• Dubois PC, Trynka G, Franke L, Hunt KA, Romanos J, Curtotti A, Zhernakova A, Heap GA, Adány R, Aromaa A, Bardella MT, van den Berg LH, Bockett NA, de la Concha EG, Dema B, Fehrmann RS, Fernández-Arquero M, Fiatal S, Grandone E, Green PM, Groen HJ, Gwilliam R, Houwen RH, Hunt SE, Kaukinen K, Kelleher D, Korponay-Szabo I, Kurppa K, Macmathuna P, Mäki M, Mazzilli MC, McCann OT, Mearin ML, Mein CA, Mirza MM, Mistry V, Mora B, Morley KI, Mulder CJ, Murray JA, Núñez C, Oosterom E, Ophoff RA, Polanco I, Peltonen L, Platteel M, Rybak A, Salomaa V, Schweizer JJ, Sperandeo MP, Tack GJ, Turner G, Veldink JH, Verbeek WH, Weersma RK, Wolters VM, Urcelay E, Cukrowska B, Greco L, Neuhausen SL, McManus R, Barisani D, Deloukas P, Barrett JC, Saavalainen P, Wijmenga C, van Heel DA. Multiple common variants for celiac disease influencing immune gene expression. Nature Genetics. 2010 Apr;42(4):295-302. PubMed PMID: 20190752
• Heap GA, Yang JH, Downes K, Healy BC, Hunt KA, Bockett N, Franke L, Dubois PC, Mein CA, Dobson RJ, Albert TJ, Rodesch MJ, Clayton DG, Todd JA, van Heel DA*, Plagnol V*. Genome-wide analysis of allelic expression imbalance in human primary cells by high throughput transcriptome resequencing. Human Molecular Genetics 2010 Jan 1;19(1):122-34. PubMed PMID: 19825846
• Soranzo N, Spector TD, 64 co-authors..., van Heel DA, Tyler-Smith C, Thein SL, Kathiresan S, PerolaM, Reilly MP, Stewart AF, Erdmann J, Samani NJ, Meisinger C, Greinacher A, Deloukas P, Ouwehand WH, Gieger C. A genome-wide meta-analysis identifies 22 lociassociated with eight haematological parameters in the HaemGen consortium. Nat Genet. 2009 Nov;41(11):1182-90.
• Garner CP, Murray JA, Ding YC, Tien Z, van Heel DA, Neuhausen SL. Replication of celiac disease UK genome-wide association study results in a US population. Hum Mol Genet. 2009 Nov 1;18(21):4219-25.
• Coenen MJ, Trynka G, Heskamp S, Franke B, van Diemen CC, Smolonska J, van Leeuwen M, Brouwer E, Boezen MH, Postma DS, Platteel M, Zanen P, Lammers JW, Groen HJ, Mali WP, Mulder CJ, Tack GJ, Verbeek WH, Wolters VM, Houwen RH, Mearin ML, van Heel DA, Radstake TR, van Riel PL, Wijmenga C, Barrera P, Zhernakova A. Common and different genetic background for rheumatoid arthritis and coeliac disease. Hum Mol Genet. 2009 Nov 1;18(21):4195-203.
• Romanos J, van Diemen CC, Nolte IM, Trynka G, Zhernakova A, Fu J, Bardella MT, Barisani D, McManus R, van Heel DA, Wijmenga C. Analysis of HLA and non-HLA alleles can identify individuals at high risk for celiac disease. Gastroenterology. 2009 Sep;137(3):834-40
• Heap GA, van Heel DA. Genetics and pathogenesis of coeliac disease. Semin Immunol. 2009 May 13.
• Hunt KA, van Heel DA. Recent advances in coeliac disease genetics. Gut. 2009 Apr;58(4):473-6. Review.
• Heap GA, van Heel DA. The genetics of chronic inflammatory diseases. Hum Mol Genet. 2009 Apr 15;18(R1):R101-6. Review.
• Trynka G, Zhernakova A, Romanos J, Franke L, Hunt KA, Turner G, Bruinenberg M, Heap GA, Platteel M, Ryan AW, de Kovel C, Holmes GK, Howdle PD, Walters JR, Sanders DS, Mulder CJ, Mearin ML, Verbeek WH, Trimble V, Stevens FM, Kelleher D, Barisani D, Bardella MT, McManus R, van Heel DA, Wijmenga C. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. Gut. 2009 Aug;58(8):1078-83.
• Dubois P, Hunt K, van Heel D. Sex differences in HLA DQ in celiac disease. Am J Gastroenterol. 2009 Mar;104(3):784;
• Koskinen LL, Einarsdottir E, Dukes E, Heap GA, Dubois P, Korponay-Szabo IR,Kaukinen K, Kurppa K, Ziberna F, Vatta S, Not T, Ventura A, Sistonen P, Adány R, Pocsai Z, Széles G, Mäki M, Kere J, Wijmenga C, van Heel DA, Saavalainen P. Association study of the IL18RAP locus in three European populations with coeliac disease. Hum Mol Genet. 2009 Mar 15;18(6):1148-55.
• Dubois PC, van Heel DA. Translational mini-review series on theimmunogenetics of gut disease: immunogenetics of coeliac disease. Clin Exp Immunol. 2008 Aug;153(2):162-73. Review.
• Heap GA, Yang JH, Downes K, Healy BC, Hunt KA, Bockett N, Franke L, Dubois PC, Mein CA, Dobson RJ, Albert TJ, Rodesch MJ, Clayton DG, Todd JA, van Heel DA*, Plagnol V*. Genome-wide analysis of allelic expression imbalance in human primary cells by high throughput transcriptome resequencing. Human Molecular Genetics 2009 Oct 13. [Epub ahead of print]
• Smyth DJ, Plagnol V, Walker NM, Cooper JD, Downes K, Yang JH, Howson JM, Stevens H, McManus R, Wijmenga C, Heap GA, Dubois PC, Clayton DG, Hunt KA, van Heel DA , Todd JA. Shared and distinct genetic variants in type 1 diabetes and celiac disease. N Engl J Med. 2008 Dec 25;359(26):2767-77.
• Franke L, de Kovel CG, Aulchenko YS, Trynka G, Zhernakova A, Hunt KA, Blauw HM, van den Berg LH, Ophoff R, Deloukas P, van Heel DA , Wijmenga C. Detection, imputation, and association analysis of small deletions and null alleles on oligonucleotide arrays. Am J Hum Genet. 2008 Jun;82(6):1316-33.
• Monsuur AJ, de Bakker PI, Zhernakova A, Pinto D, Verduijn W, Romanos J, Auricchio R, Lopez A, van Heel DA , Crusius JB, Wijmenga C. Effective detection of human leukocyte antigen risk alleles in celiac disease using tag single nucleotide polymorphisms. PLoS ONE. 2008 May 28;3(5):e2270.
• Dubois PC, van Heel DA . New susceptibility genes for ulcerative colitis. Nat Genet. 2008 Jun;40(6):686-8. [Commentary]
• Hunt KA, Franke L, Deloukas P, Wijmenga C, van Heel DA . No evidence in a large UK collection for celiac disease risk variants reported by a Spanish study. Gastroenterology . 2008 May;134(5):1629-30
• Zhernakova A, Festen EM, Franke L, Trynka G, van Diemen CC, Monsuur AJ, Bevova M, Nijmeijer RM, van 't Slot R, Heijmans R, Boezen HM, van Heel DA , van Bodegraven AA, Stokkers PC, Wijmenga C, Crusius JB, Weersma RK. Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP. Am J Hum Genet. 2008 May;82(5):1202-10.
• Adamovic S, Amundsen SS, Lie BA, Gudjónsdóttir AH, Ascher H, Ek J, van Heel DA , Nilsson S, Sollid LM, Torinsson Naluai A. Association study of IL2/IL21 and FcgRIIa: significant association with the IL2/IL21 region in Scandinavian coeliac disease families. Genes Immun . 2008 Jun;9(4):364-7.
• Hunt KA, Zhernakova A, Turner G, Heap GA, Franke L, Bruinenberg M, Romanos J, Dinesen LC, Ryan AW, Panesar D, Gwilliam R, Takeuchi F, McLaren WM, Holmes GK, Howdle PD, Walters JR, Sanders DS, Playford RJ, Trynka G, Mulder CJ, Mearin ML, Verbeek WH, Trimble V, Stevens FM, O'Morain C, Kennedy NP, Kelleher D, Pennington DJ, Strachan DP, McArdle WL, Mein CA, Wapenaar MC, Deloukas P, McGinnis R, McManus R, Wijmenga C, van Heel DA . Newly identified genetic risk variants for celiac disease related to the immune response. Nat Genet . 2008 Apr;40(4):395-402.
• Zhernakova A, Alizadeh BZ, Bevova M, van Leeuwen MA, Coenen MJ, Franke B, Franke L, Posthumus MD, van Heel DA , van der Steege G, Radstake TR, Barrera P, Roep BO, Koeleman BP, Wijmenga C. Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases. Am J Hum Genet 2007 Dec; 81(6):1284-8.
• Wapenaar MC, Monsuur A, van Bodegraven A, Weersma RK, Bevova M, Linskens R, Howdle P, Holmes G, Mulder CJ, Dijkstra G, van Heel DA , Wijmenga C. Associations With Tight Junction Genes Pard3 And Magi2 In Dutch Patients Point To A Common Barrier Defect For Celiac Disease And Ulcerative Colitis. Gut . 2007 Nov 7; [Epub ahead of print]
• Marchbank T, Mahmood A, Fitzgerald AJ, Domin J, Butler M, Goodlad RA, Elia G, Cox HM, van Heel DA , Ghosh S, Playford RJ. Human pancreatic secretory trypsin inhibitor stabilizes intestinal mucosa against noxious agents. Am J Pathol 2007 Nov;171(5):1462-73.
• Henderson KN, Tye-Din JA, Reid HH, Chen Z, Borg NA, Beissbarth T, Tatham A, Mannering SI, Purcell AW, Dudek NL, van Heel DA , McCluskey J, Rossjohn J, Anderson RP. A structural and immunological basis for the role of human leukocyte antigen DQ8 in celiac disease. Immunity 2007 Jul;27(1):23-34.
• van Heel DA , Franke L, Hunt KA, Gwilliam R, Zhernakova A, Inouye M, Wapenaar MC, Barnardo MC, Bethel G, Holmes GK, Feighery C, Jewell D, Kelleher D, Kumar P, Travis S, Walters JR, Sanders DS, Howdle P, Swift J, Playford RJ, McLaren WM, Mearin ML, Mulder CJ, McManus R, McGinnis R, Cardon LR, Deloukas P, Wijmenga C. A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. Nat Genet 2007 Jul;39(7):827-9.
• Cartwright N, Murch O, McMaster SK, Paul-Clark MJ, van Heel DA , Ryffel B, Quesniaux VF, Evans TW, Thiemermann C, Mitchell JA. Selective NOD1 agonists cause shock and organ injury/dysfunction in vivo. Am J Respir Crit Care Med. 2007 Mar 15;175(6):595-603.
• AA van Bodegraven, CR Curley, KA Hunt, AJ Monsuur, RK Linskens, CM Onnie, JBA Crusius, V Annese, A Latiano, MS Silverberg, A Bitton, SA Fisher, AH Steinhart, A Forbes, J Sanderson, NJ Prescott, DP Strachan, RJ Playford, CG Mathew, C Wijmenga, MJ Daly, JD Rioux, DA van Heel .Genetic variation in myosin IXB is associated with ulcerative colitis. Gastroenterology 2006; 131(6):1768-74.
• JRF Walters, S Balesaria, K-M Chavele, V Taylor, JL Berry, U Khair, NF Barley, DA van Heel , J Field, JO Hayat, A Bhattacharjee, R Jeffery, Richard Poulsom. Calcium channel TRPV6 expression in human duodenum: different relationships to the vitamin D system and aging in men and women. Journal of Bone and Mineral Research 2006 Nov;21(11):1770-7
• McGovern DP, Butler H, Ahmad T, Paolucci M, van Heel DA , Negoro K, Hysi P, Ragoussis J, Travis SP, Cardon LR, Jewell DP. TUCAN (CARD8) genetic variants and inflammatory bowel disease. Gastroenterology . 2006 Oct;131(4):1190-6.
• DA van Heel . Interleukin-15 : its role in intestinal inflammation. Gut 2006; 55(4):444-5 [Commentary].
• DA van Heel , J West. Recent Advances: Coeliac Disease. Gut 2006;55(7):1037-1046 [Commentary].
• DA van Heel , KA. Hunt, K King, S Ghosh , S Gabe, CG Mathew, A Forbes, RJ. Playford. Detection of muramyl dipeptide sensing pathway defects in patients with Crohn's disease. Inflammatory Bowel Disease 2006; 12(7):598-605.
• DA van Heel , KA. Hunt, S Ghosh , M Hervé, RJ Playford. Normal responses to specific NOD1 activating peptidoglycan agonists in the presence of the NOD2 frameshift and other mutations in Crohn's disease. European Journal of Immunology 2006;36(6):1629-35.
• M Butler, CY Ng, DA van Heel , G Lombardi, R Lechler, RJ. Playford, S Ghosh . Modulation of Dendritic Cell Phenotype and Function in an in vitro Model of the Intestinal Epithelium. European Journal of Immunology 2006; 36(4):864-74.
• KA Hunt, AJ Monsuur, WL McArdle, PJ Kumar, SPL Travis, JRF Walters, DP Jewell, DP Strachan, RJ Playford, C Wijmenga, DA van Heel . Lack of association of MYO9B genetic variants with coeliac disease in a British cohort. Gut 2006;55(7):969-972.
• RP Anderson, DA van Heel , JA Tye-Din, DP Jewell, AVS Hill. Antagonists and non-toxic variants of the dominant wheat gliadin T-cell epitope in coeliac disease. Gut 2006;55(4):485-91.
• DA van Heel , S Ghosh , M Butler, KA Hunt, BMJ Foxwell, D Mengin-Lecreulx, RJ Playford. Synergistic enhancement of Toll-like receptor responses by NOD1 activation. European Journal of Immunology 2005 ; 35(8):2471-6.
• DA van Heel , KA Hunt, L Greco, C Wijmenga. Genetics in coeliac disease. Best Practice and Research Clinical Gastroenterology 2005;19(3):323-39 [Review].
• DA van Heel , S Ghosh , KA Hunt, C Mathew, A Forbes, DP Jewell, RJ Playford. Synergy between TLR9 and NOD2 innate immune responses is lost in genetic Crohn's disease. Gut 2005: 54(11):1553-7.
• Pierik M, et al. and the IBD International Genetics Consortium (Oxford group: D Jewell, N Lench , D McGovern, D van Heel ). The IBD international genetics consortium provides further evidence for linkage to IBD4 and shows gene-environment interaction. Inflammatory Bowel Disease 2005 Jan;11(1):1-7.
• McGovern DP, Hysi P, Ahmad T, van Heel DA , Moffatt MF, Carey A, Cookson WO, Jewell DP. Association between a complex insertion/deletion polymorphism in NOD1(CARD4) and susceptibility to inflammatory bowel disease. Human Molecular Genetics 2005:14,1245-50.
• RP Anderson, DA van Heel , JA Tye-Din, M Barnardo, M Salio, DP Jewell, AVS Hill. T-cells in peripheral blood after gluten challenge in coeliac disease. Gut 2005: 54(9): 1217-1223.
• DA van Heel , J Dart, Sandra Nichols, DP Jewell, RJ Playford. Novel presentation of coeliac disease after following the Atkins low carbohydrate diet. Gut 2005: 54(9): 1342 [Letter].
• KA Hunt, DPB McGovern, PJ Kumar, S Ghosh, SPL Travis, JRF Walters, DP Jewell, RJ Playford, DA van Heel . A common CTLA4 haplotype associated with coeliac disease. European Journal of Human Genetics 2005 Apr;13(4):440-4.
• DA van Heel , S Ghosh, M Butler, KA Hunt, A Lundberg, T Ahmad, DPB McGovern, C Onnie, K Negoro, S Goldthorpe, BMJ Foxwell, CG Mathew, A Forbes, DP Jewell, RJ Playford. Muramyl dipeptide and toll-like receptor sensitivity in NOD2-associated Crohn's disease. Lancet 2005; 365, 1794-6.
• DW Owens, NJ Wilson, AJM Hill, EL Rugg, RM Porter, AM Hutcheson, RA Quinlan, D van Heel , M Parkes, DP Jewell, SF Campbell, S Ghosh, J Satsangi, EB Lane. Human keratin 8 mutations that disturb filament assembly observed in inflammatory bowel disease patients. Journal of Cell Science 2004; 117, 1989-1999.
• S Ghosh , DA van Heel , RJ Playford. Probiotics in inflammatory bowel disease - is it all gut flora modulation? Gut 2004, May;53(5):620-2 [Commentary].
• MB Frenz, DA van Heel , G Siuda, SP Travis. Unusual malfunction of percutaneous endoscopic jejunostomy feeding tubes in patients with intestinal dysmotility. Endoscopy . 2004 Mar;36(3):234-5.
• DA van Heel , SA Fisher, A Kirby, M Daly, J Rioux, CM Lewis and the International IBD Genetics Consortium. Inflammatory bowel disease susceptibility loci defined by genome scan meta-analysis of 1952 affected relative pairs. Human Molecular Genetics 2004 Apr 1;13(7):763-70.
• DPB McGovern, DA van Heel , K Negoro, T Ahmad, DP Jewell. Further evidence of IBD5/CARD15(NOD2) epistasis in the susceptibility to ulcerative colitis (UC). American Journal of Human Genetics 2003 Dec;73(6):1465-6.
• DA van Heel , B Dechairo, G Dawson, D McGovern, K Negoro, A Carey, L Cardon, I Mackay, D Jewell, N Lench . The IBD6 Crohn's disease locus demonstrates complex interactions with CARD15 and IBD5 disease associated variants. Human Molecular Genetics 2003 Oct 15;12(20):2569-75.
• JRF Walters, DA van Heel . Detecting the risks of osteoporotic fracture in coeliac disease. Gut 2003; 8: 1229 - 1230 [Letter].
• A Armuzzi, T Ahmad, K-L Ling, A de Silva, SN Cullen, DA van Heel , TR Orchard, KI Welsh, SE Marshall, DP Jewell. Genotype-phenotype analysis of the Crohn's disease susceptibility haplotype on chromosome 5q31. Gut 2003; 8: 1133-1139.
• N.J. O'Callaghan, K.E. Adams, D.A. van Heel and J.A. Cavanaugh. Association of TNF-alpha-857C with inflammatory bowel disease in the Australian population. Scandinavian Journal of Gastroenterology 2003 May;38(5):533-4.
• K Negoro, DP McGovern, Y Kinouchi, S Takahashi, N Lench, T Shimosegawa, A Carey, L Cardon, D Jewell, DA van Heel . Analysis of the IBD5 locus and potential gene-gene interactions in Crohn's disease. Gut 2003; 52:541-546
• T Ahmad, SE Marshall, K Mulcahy-Hawes, M Neville, D van Heel , KI. Welsh, DP Jewell, M Bunce. High resolution MIC genotyping - Design and application to the investigation of Inflammatory Bowel Disease susceptibility. Tissue Antigens . 2002 Aug;60(2):164-79.
• DA van Heel , IA Udalova, AP De Silva, LR Cardon, NJ Lench, AH Carey, D Kwiatkowski, DP Jewell. Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF-kappaB transcription factors. Human Molecular Genetics 2002; 11:1281-9
• AM Crane, L Bradbury, DA van Heel , DPB McGovern, S Brophy , L Rubin, KA Siminovitch, BP Wordsworth, A Calin, MA Brown. Role of NOD2 variants in spondylarthritis. Arthritis and Rheumatism 2002; 46(6): 1629-33.
• DA van Heel , DPB McGovern , LR Cardon, NJ Lench, AH Carey, DP Jewell. Fine mapping of the IBD1 locus did not identify Crohn disease-associated NOD2 variants: implications for complex disease genetics. American Journal of Medical Genetics 2002; 111:253-259.
• DA van Heel , AH Carey, DP Jewell. Identification of novel polymorphisms in the b 7 integrin gene : family based association studies in inflammatory bowel disease. Genes and Immunity (2001) 2; 8: 455-460.
• B Dechairo, C Dimon, DA van Heel , P Scambler, NJ Lench, DP Jewell, AH Carey. Replication and extension studies spanning inflammatory bowel disease susceptibility regions confirm linkage to chromosome 6p(IBD3). European Journal of Human Genetics 2001; 9: 627-33.
• DPB McGovern, DA van Heel , T Ahmed, DP Jewell. NOD2 (CARD15), the first susceptibility gene for Crohn's disease. Gut (2001), 49: 752-742 [Commentary].
• DA van Heel , DPB McGovern, DP Jewell. Crohn's disease: genetic susceptibility, bacteria and innate immunity. Lancet 2001; 357; 1902 - 1904 [Commentary].
• The IBD International Genetics Consortium (Oxford group: DA van Heel , M Parkes, NJ Lench, DP Jewell). International collaboration provides convincing linkage replication in complex disease through analysis of a large pooled dataset: Crohn's disease and chromosome 16. American Journal of Human Genetics 2001; 68: 1165 - 1171.