Publications: Prof David van Heel

Spreckley M, Raza M, Islam K, Russell J, Hunt K, Durham C, Team GHR, van Heel D et al. ( 2024 ) . Advancing health and fostering community involvement in medical research through the Genes & Health study . Trends in Endocrinology and Metabolism

Hodgson S, Williamson A, Bigossi M, Stow D, Jacobs BM, Samuel M, Gafton J, Zöllner J et al. ( 2024 ) . Genetic basis of early onset and progression of type 2 diabetes in South Asians . Nature Medicine1 - 9 .

Hamilton F, Schurz H, Yates TA, Gilchrist JJ, Möller M, Naranbhai V, Ghazal P, Timpson NJ et al. ( 2024 ) . Altered IL-6 signalling and risk of tuberculosis: a multi-ancestry mendelian randomisation study . The Lancet Microbe

Jacobs BM, Stow D, Hodgson S, Zöllner J, Samuel M, Kanoni S, Bidi S, Walter K et al. ( 2024 ) . Genetic architecture of routinely acquired blood tests in a British South Asian cohort . Nature Communications vol. 15 , ( 1 )

Gomez EA, De Matteis R, Udomjarumanee P, Team GAHR, Akhtar S, Anwar M, Arciero E, Asgar O et al. ( 2024 ) . An LGR6 frameshift variant abrogates receptor expression on select leukocyte subsets and is associated with viral infections . Blood vol. 144 , ( 4 ) 420 - 434 .

Monti R, Eick L, Hudjashov G, Läll K, Kanoni S, Wolford BN, Wingfield B, Pain O et al. ( 2024 ) . Evaluation of polygenic scoring methods in five biobanks shows larger variation between biobanks than methods and finds benefits of ensemble learning . American Journal of Human Genetics vol. 111 , ( 7 ) 1431 - 1447 .

Jermy B, Läll K, Wolford BN, Wang Y, Zguro K, Cheng Y, Kanai M, Kanoni S et al. ( 2024 ) . A unified framework for estimating country-specific cumulative incidence for 18 diseases stratified by polygenic risk . Nature Communications vol. 15 , ( 1 )

Lincoln MR, Connally N, Axisa P-P, Gasperi C, Mitrovic M, van Heel D, Wijmenga C, Withoff S et al. ( 2024 ) . Genetic mapping across autoimmune diseases reveals shared associations and mechanisms . Nature Genetics vol. 56 , ( 5 ) 838 - 845 .

Truong B, Hull LE, Ruan Y, Huang QQ, Hornsby W, Martin H, van Heel DA, Wang Y et al. ( 2024 ) . Integrative polygenic risk score improves the prediction accuracy of complex traits and diseases . Cell Genomics vol. 4 , ( 4 )

Suzuki K, Hatzikotoulas K, Southam L, Taylor HJ, Yin X, Lorenz KM, Mandla R, Huerta-Chagoya A et al. ( 2024 ) . Genetic drivers of heterogeneity in type 2 diabetes pathophysiology . Nature vol. 627 , ( 8003 ) 347 - 357 .

Meng X, Navoly G, Giannakopoulou O, Levey DF, Koller D, Pathak GA, Koen N, Lin K et al. ( 2024 ) . Multi-ancestry genome-wide association study of major depression aids locus discovery, fine mapping, gene prioritization and causal inference . Nature Genetics vol. 56 , ( 2 ) 222 - 233 .

Williams AT, Chen J, Coley K, Batini C, Izquierdo A, Packer R, Abner E, Kanoni S et al. ( 2023 ) . Genome-wide association study of thyroid-stimulating hormone highlights new genes, pathways and associations with thyroid disease . Nature Communications vol. 14 , ( 1 )

Malawsky DS, van Walree E, Jacobs BM, Heng TH, Huang QQ, Sabir AH, Rahman S, Sharif SM et al. ( 2023 ) . Influence of autozygosity on common disease risk across the phenotypic spectrum . Cell vol. 186 , ( 21 ) 4514 - 4527.e14 .

Kanai M, Andrews SJ, Cordioli M, Stevens C, Neale BM, Daly M, Ganna A, Chwialkowska K et al. ( 2023 ) . A second update on mapping the human genetic architecture of COVID-19 . Nature vol. 621 , ( 7977 ) e7 - e26 .

Magavern EF, Jacobs B, Warren H, Finocchiaro G, Finer S, van Heel DA, Team GHR, Smedley D et al. ( 2023 ) . CYP2C19 Genotype Prevalence and Association With Recurrent Myocardial Infarction in British–South Asians Treated With Clopidogrel . JACC Advances vol. 2 , ( 7 )

Magavern EF, van Heel DA, Team GHR, Smedley D, Caulfield MJ ( 2023 ) . CYP2C19 loss‐of‐function alleles are not associated with higher prevalence of gastrointestinal bleeds in those who have been prescribed antidepressants: Analysis in a British‐South Asian cohort . British Journal of Clinical Pharmacology vol. 89 , ( 11 ) 3432 - 3438 .

Patel AP, Wang M, Ruan Y, Koyama S, Clarke SL, Yang X, Tcheandjieu C, Agrawal S et al. ( 2023 ) . A multi-ancestry polygenic risk score improves risk prediction for coronary artery disease . Nature Medicine vol. 29 , ( 7 ) 1793 - 1803 .

Kiryluk K, Sanchez-Rodriguez E, Zhou X-J, Zanoni F, Liu L, Mladkova N, Khan A, Marasa M et al. ( 2023 ) . Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy . Nature Genetics vol. 55 , ( 7 ) 1091 - 1105 .

Honigberg MC, Truong B, Khan RR, Xiao B, Bhatta L, Vy HMT, Guerrero RF, Schuermans A et al. ( 2023 ) . Polygenic prediction of preeclampsia and gestational hypertension . Nature Medicine vol. 29 , ( 6 ) 1540 - 1549 .

Magavern EF, van Heel DA, Smedley D, Caulfield MJ ( 2023 ) . SLCO1B1*5 is protective against non-senile cataracts in cohort prescribed statins: analysis in a British-South Asian cohort . The Pharmacogenomics Journal vol. 23 , ( 5 ) 134 - 139 .

Zöllner J, Finer S, Linton KJ, van Heel DA, Williamson C, Dixon PH ( 2023 ) . Rare variant contribution to cholestatic liver disease in a South Asian population in the United Kingdom . Scientific Reports vol. 13 , ( 1 )

Truong B, Hull LE, Ruan Y, Huang QQ, Hornsby W, Martin H, van Heel DA, Wang Y et al. ( 2023 ) . Integrative polygenic risk score improves the prediction accuracy of complex traits and diseases . vol. 4 , ( 03-02 )

Dobson R, Jacobs B, Marshall C ( 2023 ) . Polygenic risk score prediction of Multiple Sclerosis in individuals of South Asian ancestry . Brain Communications

Wang Y, Namba S, Lopera E, Kerminen S, Tsuo K, Läll K, Kanai M, Zhou W et al. ( 2023 ) . Global Biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts . Cell Genomics vol. 3 , ( 1 )

Kanoni S, Graham SE, Wang Y, Surakka I, Ramdas S, Zhu X, Clarke SL, Bhatti KF et al. ( 2022 ) . Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis . Genome Biology vol. 23 , ( 1 )

Zhou W, Kanai M, Wu K-HH, Rasheed H, Tsuo K, Hirbo JB, Wang Y, Bhattacharya A et al. ( 2022 ) . Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease . Cell Genomics vol. 2 , ( 10 )

Huang QQ, Sallah N, Dunca D, Trivedi B, Hunt KA, Hodgson S, Lambert SA, Arciero E et al. ( 2022 ) . Transferability of genetic loci and polygenic scores for cardiometabolic traits in British Pakistani and Bangladeshi individuals . Nature Communications vol. 13 , ( 1 )

Nguyen H, Solomonson M, Palotie A, Davis L, Lee S, Priest J, Sankaran VG, van Heel D et al. ( 2022 ) . A first update on mapping the human genetic architecture of COVID-19 . Nature vol. 608 , ( 7921 ) e1 - e10 .

Ramdas S, Judd J, Graham SE, Kanoni S, Wang Y, Surakka I, Wenz B, Clarke SL et al. ( 2022 ) . A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids . American Journal of Human Genetics vol. 109 , ( 8 ) 1366 - 1387 .

Hodgson S, Huang QQ, Sallah N, Team GHR, Griffiths CJ, Newman WG, Trembath RC, Wright J et al. ( 2022 ) . Integrating polygenic risk scores in the prediction of type 2 diabetes risk and subtypes in British Pakistanis and Bangladeshis: A population-based cohort study . PLOS Medicine vol. 19 , ( 5 )

Baillie JK, Begg C, Clohisey Hendry S, Hinds C, Horby P, Knight J, Ling L, Maslove D et al. ( 2022 ) . Whole-genome sequencing reveals host factors underlying critical COVID-19 . Nature vol. 607 , ( 7917 ) 97 - 103 .

Arciero E, Dogra SA, Malawsky DS, Mezzavilla M, Tsismentzoglou T, Huang QQ, Hunt KA, Mason D et al. ( 2021 ) . Fine-scale population structure and demographic history of British Pakistanis . Nature Communications vol. 12 , ( 1 )

Graham SE, Clarke SL, Wu K-HH, Kanoni S, Zajac GJM, Ramdas S, Surakka I, Ntalla I et al. ( 2021 ) . The power of genetic diversity in genome-wide association studies of lipids . Nature vol. 600 , ( 7890 ) 675 - 679 .

Lam BYH, Williamson A, Finer S, Day FR, Tadross JA, Gonçalves Soares A, Wade K, Sweeney P et al. ( 2021 ) . MC3R links nutritional state to childhood growth and the timing of puberty . Nature vol. 599 , ( 7885 ) 436 - 441 .

D’Antonio M, Nguyen JP, Arthur TD, Matsui H, Neale BM, Daly M, Ganna A, Stevens C et al. ( 2021 ) . SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues . Cell Reports vol. 37 , ( 7 )

Niemi MEK, Karjalainen J, Liao RG, Neale BM, Daly M, Ganna A, Davis L, Lee S et al. ( 2021 ) . Mapping the human genetic architecture of COVID-19 . Nature vol. 600 , ( 7889 ) 472 - 477 .

Pairo-Castineira E, Clohisey S, Klaric L, Bretherick AD, Rawlik K, Pasko D, Walker S, Parkinson N et al. ( 2020 ) . Genetic mechanisms of critical illness in COVID-19 . Nature vol. 591 , ( 7848 ) 92 - 98 .

Severe Covid-19 GWAS Group, Ellinghaus D, Degenhardt F, Bujanda L, Buti M, Albillos A, Invernizzi P, Fernández J et al. ( 2020 ) . Genomewide Association Study of Severe Covid-19 with Respiratory Failure . N Engl J Med vol. 383 , ( 16 ) 1522 - 1534 .

Zeberg H, Pääbo S ( 2020 ) . The major genetic risk factor for severe COVID-19 is inherited from Neanderthals . Nature vol. 587 , ( 7835 ) 610 - 612 .

Chen M-H, Raffield LM, Mousas A, Sakaue S, Huffman JE, Moscati A, Trivedi B, Jiang T et al. ( 2020 ) . Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations . Cell vol. 182 , ( 5 ) 1198 - 1213.e14 .

Sharp SA, Jones SE, Kimmitt RA, Weedon MN, Halpin AM, Wood AR, Beaumont RN, King S et al. ( 2020 ) . A single nucleotide polymorphism genetic risk score to aid diagnosis of coeliac disease: a pilot study in clinical care . Alimentary Pharmacology & Therapeutics vol. 52 , ( 7 ) 1165 - 1173 .

Minikel EV, Karczewski KJ, Martin HC, Cummings BB, Whiffin N, Rhodes D, Alföldi J, Trembath RC et al. ( 2020 ) . Evaluating drug targets through human loss-of-function genetic variation . Nature vol. 581 , ( 7809 ) 459 - 464 .

McGregor TL, Hunt KA, Yee E, Mason D, Nioi P, Ticau S, Pelosi M, Loken PR et al. ( 2020 ) . Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria . eLife vol. 9 ,

Cuvertino S, Hartill V, Colyer A, Garner T, Nair N, Al-Gazali L, Canham N, Faundes V et al. ( 2020 ) . A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome . Genetics in Medicine vol. 22 , ( 5 ) 867 - 877 .

Clark DW, Okada Y, Moore KHS, Mason D, Pirastu N, Gandin I, Mattsson H, Barnes CLK et al. ( 2019 ) . Associations of autozygosity with a broad range of human phenotypes . Nature Communications vol. 10 , ( 1 ) 4957 - 4957 .

Finer S, Martin HC, Khan A, Hunt KA, MacLaughlin B, Ahmed Z, Ashcroft R, Durham C et al. ( 2019 ) . Cohort Profile: East London Genes & Health (ELGH), a community-based population genomics and health study in British Bangladeshi and British Pakistani people . International Journal of Epidemiology vol. 49 , ( 1 ) 20 - 21i .

KELSELL DP, O'TOOLE E, PIGORS M, SCOTT CA, Tabarra N, VAN HEEL DA ( 2018 ) . Exome sequencing and rare variant analysis reveals multiple filaggrin mutations in Bangladeshi atopic eczema families and novel risk genes . Journal of Investigative Dermatology

Gräf S, Haimel M, Bleda M, Hadinnapola C, Southgate L, Li W, Hodgson J, Liu B et al. ( 2018 ) . Identification of rare sequence variation underlying heritable pulmonary arterial hypertension . Nature Communications vol. 9 , ( 1 )

VAN HEEL DA ( 2018 ) . Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference . Nature Communications

Narasimhan VM, Rahbari R, Scally A, Wuster A, Mason D, Xue Y, Wright J, Trembath RC et al. ( 2017 ) . Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes . Nature Communications vol. 8 , ( 1 )

Telomeres Mendelian Randomization Collaboration, Haycock PC, Burgess S, Nounu A, Zheng J, Okoli GN, Bowden J, Wade KH et al. ( 2017 ) . Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study . JAMA Oncol vol. 3 , ( 5 ) 636 - 651 .

Tummala H, Walne AJ, Williams M, Bockett N, Collopy L, Cardoso S, Ellison A, Wynn R et al. ( 2016 ) . DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation . American Journal of Human Genetics vol. 99 , ( 1 ) 115 - 124 .

Prins BP, Abbasi A, Wong A, Vaez A, Nolte I, Franceschini N, Stuart PE, Guterriez Achury J et al. ( 2016 ) . Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study . PLOS Medicine vol. 13 , ( 6 ) e1001976 - e1001976 .

Narasimhan VM, Hunt KA, Mason D, Baker CL, Karczewski KJ, Barnes MR, Barnett AH, Bates C et al. ( 2016 ) . Health and population effects of rare gene knockouts in adult humans with related parents . Science vol. 352 , ( 6284 ) 474 - 477 .

Lenz TL, Deutsch AJ, Han B, Hu X, Okada Y, Eyre S, Knapp M, Zhernakova A et al. ( 2015 ) . Widespread non-additive and interaction effects within HLA loci modulate the risk of autoimmune diseases . Nature Genetics vol. 47 , ( 9 ) 1085 - 1090 .

Lenz TL, Deutsch AJ, Han B, Hu X, Okada Y, Eyre S, Knapp M, Zhernakova A et al. ( 2015 ) . Widespread non-additive and interaction effects within HLA loci modulate the risk of autoimmune diseases . Nature Genetics vol. 47 , ( 9 ) 1085 - 1090 .

Gutierrez-Achury J, Zhernakova A, Pulit SL, Trynka G, Hunt KA, Romanos J, Raychaudhuri S, van Heel DA et al. ( 2015 ) . Fine mapping in the MHC region accounts for 18% additional genetic risk for celiac disease . Nature Genetics vol. 47 , ( 6 ) 577 - 578 .

Mistry V, Bockett NA, Levine AP, Mirza MM, Hunt KA, Ciclitira PJ, Hummerich H, Neuhausen SL et al. ( 2015 ) . Exome Sequencing of 75 Individuals from Multiply Affected Coeliac Families and Large Scale Resequencing Follow Up . PLOS ONE vol. 10 , ( 1 )

Heap GA, Weedon MN, Bewshea CM, Singh A, Chen M, Satchwell JB, Vivian JP, So K et al. ( 2014 ) . HLA-DQA1-HLA-DRB1 variants confer susceptibility to pancreatitis induced by thiopurine immunosuppressants . Nat Genet vol. 46 , ( 10 ) 1131 - 1134 .

Heap GA, Weedon MN, Bewshea CM, Singh A, Chen M, Satchwell JB, Vivian JP, So K et al. ( 2014 ) . HLA-DQA1-HLA-DRB1 variants confer susceptibility to pancreatitis induced by thiopurine immunosuppressants . Nature Genetics vol. 46 , ( 10 ) 1131 - 1134 .

Conte I, Merella S, Garcia-Manteiga JM, Migliore C, Lazarevic D, Carrella S, Marco-Ferreres R, Avellino R et al. ( 2014 ) . The combination of transcriptomics and informatics identifies pathways targeted by miR-204 during neurogenesis and axon guidance . Nucleic Acids Res vol. 42 , ( 12 ) 7793 - 7806 .

Romanos J, Rosén A, Kumar V, Trynka G, Franke L, Szperl A, Gutierrez-Achury J, van Diemen CC et al. ( 2014 ) . Improving coeliac disease risk prediction by testing non-HLA variants additional to HLA variants . Gut vol. 63 , ( 3 ) 415 - 422 .

Ludvigsson JF, Bai JC, Biagi F, Card TR, Ciacci C, Ciclitira PJ, Green PHR, Hadjivassiliou M et al. ( 2014 ) . Diagnosis and management of adult coeliac disease: Guidelines from the British Society of Gastroenterology . Gut

Ludvigsson JF, Bai JC, Biagi F, Card TR, Ciacci C, Ciclitira PJ, Green PHR, Hadjivassiliou M et al. ( 2014 ) . Diagnosis and management of adult coeliac disease: Guidelines from the British society of gastroenterology . Gut vol. 63 , ( 8 ) 1210 - 1228 .

Parkes M, Cortes A, Van Heel DA, Brown MA ( 2013 ) . Genetic insights into common pathways and complex relationships among immune-mediated diseases . Nature Reviews Genetics vol. 14 , ( 9 ) 661 - 673 .

Parkes M, Cortes A, van Heel DA, Brown MA ( 2013 ) . Genetic insights into common pathways and complex relationships among immune-mediated diseases . Nat Rev Genet vol. 14 , ( 9 ) 661 - 673 .

Hunt KA, Mistry V, Bockett NA, Ahmad T, Ban M, Barker JN, Barrett JC, Blackburn H et al. ( 2013 ) . Negligible impact of rare autoimmune-locus coding-region variants on missing heritability . Nature vol. 498 , ( 7453 ) 232 - 235 .

Liu JZ, Hov JR, Folseraas T, Ellinghaus E, Rushbrook SM, Doncheva NT, Andreassen OA, Weersma RK et al. ( 2013 ) . Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis . Nat Genet vol. 45 , ( 6 ) 670 - 675 .

Hunt KA, Mistry V, Bockett NA, Ahmad T, Ban M, Barker JN, Barrett JC, Blackburn H et al. ( 2013 ) . Negligible impact of rare autoimmune-locus coding-region variants on missing heritability . Nature vol. 498 , ( 7453 ) 232 - 235 .

Fu J, Wolfs MGM, Deelen P, Westra H-J, Fehrmann RSN, Te Meerman GJ, Buurman WA, Rensen SSM et al. ( 2012 ) . Unraveling the regulatory mechanisms underlying tissue-dependent genetic variation of gene expression . PLoS Genet vol. 8 , ( 1 )

Hunt KA, Smyth DJ, Balschun T, Ban M, Mistry V, Ahmad T, Anand V, Barrett JC et al. ( 2011 ) . Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry . Nat Genet vol. 44 , ( 1 ) 3 - 5 .

Trynka G, Hunt KA, Bockett NA, Romanos J, Mistry V, Szperl A, Bakker SF, Bardella MT et al. ( 2011 ) . Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease . Nat Genet vol. 43 , ( 12 ) 1193 - 1201 .

Nanty L, Carbajosa G, Heap GA, Ratnieks F, van Heel DA, Down TA, Rakyan VK ( 2011 ) . Comparative methylomics reveals gene-body H3K36me3 in Drosophila predicts DNA methylation and CpG landscapes in other invertebrates . Genome Res vol. 21 , ( 11 ) 1841 - 1850 .

Blaydon DC, Biancheri P, Di W-L, Plagnol V, Cabral RM, Brooke MA, van Heel DA, Ruschendorf F et al. ( 2011 ) . Inflammatory skin and bowel disease linked to ADAM17 deletion . N Engl J Med vol. 365 , ( 16 ) 1502 - 1508 .

Blaydon DC, Nitoiu D, Eckl K-M, Cabral RM, Bland P, Hausser I, van Heel DA, Rajpopat S et al. ( 2011 ) . Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion . Am J Hum Genet vol. 89 , ( 4 ) 564 - 571 .

Westra H-J, Jansen RC, Fehrmann RSN, te Meerman GJ, van Heel D, Wijmenga C, Franke L ( 2011 ) . MixupMapper: correcting sample mix-ups in genome-wide datasets increases power to detect small genetic effects . Bioinformatics vol. 27 , ( 15 ) 2104 - 2111 .

Cotsapas C, Voight BF, Rossin E, Lage K, Neale BM, Wallace C, Abecasis GR, Barrett JC et al. ( 2011 ) . Pervasive sharing of genetic effects in autoimmune disease . PLoS Genet vol. 7 , ( 8 )

Fehrmann RSN, Jansen RC, Veldink JH, Westra H-J, Arends D, Bonder MJ, Fu J, Deelen P et al. ( 2011 ) . Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA . PLoS Genet vol. 7 , ( 8 )

Billmann-Born S, Till A, Arlt A, Lipinski S, Sina C, Latiano A, Annese V, Häsler R et al. ( 2011 ) . Genome-wide expression profiling identifies an impairment of negative feedback signals in the Crohn's disease-associated NOD2 variant L1007fsinsC . J Immunol vol. 186 , ( 7 ) 4027 - 4038 .

Festen EAM, Goyette P, Green T, Boucher G, Beauchamp C, Trynka G, Dubois PC, Lagacé C et al. ( 2011 ) . A meta-analysis of genome-wide association scans identifies IL18RAP, PTPN2, TAGAP, and PUS10 as shared risk loci for Crohn's disease and celiac disease . PLoS Genet vol. 7 , ( 1 )

Trynka G, Wijmenga C, van Heel DA ( 2010 ) . A genetic perspective on coeliac disease . Trends Mol Med vol. 16 , ( 11 ) 537 - 550 .

Tye-Din JA, Stewart JA, Dromey JA, Beissbarth T, van Heel DA, Tatham A, Henderson K, Mannering SI et al. ( 2010 ) . Comprehensive, quantitative mapping of T cell epitopes in gluten in celiac disease . Sci Transl Med vol. 2 , ( 41 )

Zhernakova A, Elbers CC, Ferwerda B, Romanos J, Trynka G, Dubois PC, de Kovel CGF, Franke L et al. ( 2010 ) . Evolutionary and functional analysis of celiac risk loci reveals SH2B3 as a protective factor against bacterial infection . Am J Hum Genet vol. 86 , ( 6 ) 970 - 977 .

Dubois PCA, Trynka G, Franke L, Hunt KA, Romanos J, Curtotti A, Zhernakova A, Heap GAR et al. ( 2010 ) . Multiple common variants for celiac disease influencing immune gene expression . Nat Genet vol. 42 , ( 4 ) 295 - 302 .

Heap GA, Yang JHM, Downes K, Healy BC, Hunt KA, Bockett N, Franke L, Dubois PC et al. ( 2010 ) . Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing . Hum Mol Genet vol. 19 , ( 1 ) 122 - 134 .

Heap GA, van Heel DA ( 2009 ) . Genetics and pathogenesis of coeliac disease . Semin Immunol vol. 21 , ( 6 ) 346 - 354 .

Soranzo N, Spector TD, Mangino M, Kühnel B, Rendon A, Teumer A, Willenborg C, Wright B et al. ( 2009 ) . A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium . Nat Genet vol. 41 , ( 11 ) 1182 - 1190 .

Coenen MJH, Trynka G, Heskamp S, Franke B, van Diemen CC, Smolonska J, van Leeuwen M, Brouwer E et al. ( 2009 ) . Common and different genetic background for rheumatoid arthritis and coeliac disease . Hum Mol Genet vol. 18 , ( 21 ) 4195 - 4203 .

Garner CP, Murray JA, Ding YC, Tien Z, van Heel DA, Neuhausen SL ( 2009 ) . Replication of celiac disease UK genome-wide association study results in a US population . Hum Mol Genet vol. 18 , ( 21 ) 4219 - 4225 .

Romanos J, van Diemen CC, Nolte IM, Trynka G, Zhernakova A, Fu J, Bardella MT, Barisani D et al. ( 2009 ) . Analysis of HLA and non-HLA alleles can identify individuals at high risk for celiac disease . Gastroenterology vol. 137 , ( 3 ) 834 - 840.e3 .

Trynka G, Zhernakova A, Romanos J, Franke L, Hunt KA, Turner G, Bruinenberg M, Heap GA et al. ( 2009 ) . Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling . Gut vol. 58 , ( 8 ) 1078 - 1083 .

Heap GA, van Heel DA ( 2009 ) . The genetics of chronic inflammatory diseases . Hum Mol Genet vol. 18 , ( R1 ) R101 - R106 .

Hunt KA, van Heel DA ( 2009 ) . Recent advances in coeliac disease genetics . Gut vol. 58 , ( 4 ) 473 - 476 .

Koskinen LLE, Einarsdottir E, Dukes E, Heap GAR, Dubois P, Korponay-Szabo IR, Kaukinen K, Kurppa K et al. ( 2009 ) . Association study of the IL18RAP locus in three European populations with coeliac disease . Hum Mol Genet vol. 18 , ( 6 ) 1148 - 1155 .

Dubois P, Hunt K, van Heel D ( 2009 ) . Sex differences in HLA DQ in celiac disease . Am J Gastroenterol vol. 104 , ( 3 )

Heap GA, Trynka G, Jansen RC, Bruinenberg M, Swertz MA, Dinesen LC, Hunt KA, Wijmenga C et al. ( 2009 ) . Complex nature of SNP genotype effects on gene expression in primary human leucocytes . BMC Med Genomics vol. 2 ,

Smyth DJ, Plagnol V, Walker NM, Cooper JD, Downes K, Yang JHM, Howson JMM, Stevens H et al. ( 2008 ) . Shared and Distinct Genetic Variants in Type 1 Diabetes and Celiac Disease . NEW ENGL J MED vol. 359 , ( 26 ) 2767 - 2777 .

Dubois PC, van Heel DA ( 2008 ) . Translational mini-review series on the immunogenetics of gut disease: immunogenetics of coeliac disease . Clin Exp Immunol vol. 153 , ( 2 ) 162 - 173 .

Adamovic S, Amundsen SS, Lie BA, Gudjónsdóttir AH, Ascher H, Ek J, van Heel DA, Nilsson S et al. ( 2008 ) . Association study of IL2/IL21 and FcgRIIa: significant association with the IL2/IL21 region in Scandinavian coeliac disease families . Genes Immun vol. 9 , ( 4 ) 364 - 367 .

Franke L, de Kovel CGF, Aulchenko YS, Trynka G, Zhernakova A, Hunt KA, Blauw HM, van den Berg LH et al. ( 2008 ) . Detection, imputation, and association analysis of small deletions and null alleles on oligonucleotide arrays . Am J Hum Genet vol. 82 , ( 6 ) 1316 - 1333 .

Dubois PC, van Heel DA ( 2008 ) . New susceptibility genes for ulcerative colitis . NAT GENET vol. 40 , ( 6 ) 686 - 688 .

Monsuur AJ, de Bakker PIW, Zhernakova A, Pinto D, Verduijn W, Romanos J, Auricchio R, Lopez A et al. ( 2008 ) . Effective detection of human leukocyte antigen risk alleles in celiac disease using tag single nucleotide polymorphisms . PLoS One vol. 3 , ( 5 )

Zhernakova A, Festen EM, Franke L, Trynka G, van Diemen CC, Monsuur AJ, Bevova M, Nijmeijer RM et al. ( 2008 ) . Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP . Am J Hum Genet vol. 82 , ( 5 ) 1202 - 1210 .

Hunt KA, Franke L, Deloukas P, Wjmenga C, Van Heel DA ( 2008 ) . No evidence in a large UK collection for celiac disease risk variants reported by a Spanish study . GASTROENTEROLOGY vol. 134 , ( 5 ) 1629 - 1630 .

Wapenaar MC, Monsuur AJ, van Bodegraven AA, Weersma RK, Bevova MR, Linskens RK, Howdle P, Holmes G et al. ( 2008 ) . Associations with tight junction genes PARD3 and MAGI2 in Dutch patients point to a common barrier defect for coeliac disease and ulcerative colitis . Gut vol. 57 , ( 4 ) 463 - 467 .

Hunt KA, Zhernakova A, Turner G, Heap GAR, Franke L, Bruinenberg M, Romanos J, Dinesen LC et al. ( 2008 ) . Newly identified genetic risk variants for celiac disease related to the immune response . Nat Genet vol. 40 , ( 4 ) 395 - 402 .

Butler M, Chaudhary R, van Heel DA, Playford RJ, Ghosh S ( 2007 ) . NOD2 activity modulates the phenotype of LPS-stimulated dendritic cells to promote the development of T-helper type 2-like lymphocytes - Possible implications for NOD2-associated Crohn's disease . J CROHNS COLITIS vol. 1 , ( 2 ) 106 - 115 .

Zhernakova A, Alizadeh BZ, Bevova M, van Leeuwen MA, Coenen MJH, Franke B, Franke L, Posthumus MD et al. ( 2007 ) . 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 vol. 81 , ( 6 ) 1284 - 1288 .

Marchbank T, Mahmood A, Fitzgerald AJ, Domin J, Butler M, Goodlad RA, Elia G, Cox HM et al. ( 2007 ) . Human pancreatic secretory trypsin inhibitor stabilizes intestinal mucosa against noxious agents . Am J Pathol vol. 171 , ( 5 ) 1462 - 1473 .

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