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Page 1
Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.
Liu JZ, Hov JR, Folseraas T, Ellinghaus E, Rushbrook SM, Doncheva NT, Andreassen OA, Weersma RK, Weismüller TJ, Eksteen B, Invernizzi P, Hirschfield GM, Gotthardt DN, Pares A, Ellinghaus D, Shah T, Juran BD, Milkiewicz P, Rust C, Schramm C, Müller T, Srivastava B, Dalekos G, Nöthen MM, Herms S, Winkelmann J, Mitrovic M, Braun F, Ponsioen CY, Croucher PJ, Sterneck M, Teufel A, Mason AL, Saarela J, Leppa V, Dorfman R, Alvaro D, Floreani A, Onengut-Gumuscu S, Rich SS, Thompson WK, Schork AJ, Næss S, Thomsen I, Mayr G, König IR, Hveem K, Cleynen I, Gutierrez-Achury J, Ricaño-Ponce I, van Heel D, Björnsson E, Sandford RN, Durie PR, Melum E, Vatn MH, Silverberg MS, Duerr RH, Padyukov L, Brand S, Sans M, Annese V, Achkar JP, Boberg KM, Marschall HU, Chazouillères O, Bowlus CL, Wijmenga C, Schrumpf E, Vermeire S, Albrecht M; UK-PSCSC Consortium; Rioux JD, Alexander G, Bergquist A, Cho J, Schreiber S, Manns MP, Färkkilä M, Dale AM, Chapman RW, Lazaridis KN; International PSC Study Group; Franke A, Anderson CA, Karlsen TH; International IBD Genetics Consortium. Liu JZ, et al. Nat Genet. 2013 Jun;45(6):670-5. doi: 10.1038/ng.2616. Epub 2013 Apr 21. Nat Genet. 2013. PMID: 23603763 Free PMC article.
Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease.
Trynka G, Hunt KA, Bockett NA, Romanos J, Mistry V, Szperl A, Bakker SF, Bardella MT, Bhaw-Rosun L, Castillejo G, de la Concha EG, de Almeida RC, Dias KR, van Diemen CC, Dubois PC, Duerr RH, Edkins S, Franke L, Fransen K, Gutierrez J, Heap GA, Hrdlickova B, Hunt S, Plaza Izurieta L, Izzo V, Joosten LA, Langford C, Mazzilli MC, Mein CA, Midah V, Mitrovic M, Mora B, Morelli M, Nutland S, Núñez C, Onengut-Gumuscu S, Pearce K, Platteel M, Polanco I, Potter S, Ribes-Koninckx C, Ricaño-Ponce I, Rich SS, Rybak A, Santiago JL, Senapati S, Sood A, Szajewska H, Troncone R, Varadé J, Wallace C, Wolters VM, Zhernakova A; Spanish Consortium on the Genetics of Coeliac Disease (CEGEC); PreventCD Study Group; Wellcome Trust Case Control Consortium (WTCCC); Thelma BK, Cukrowska B, Urcelay E, Bilbao JR, Mearin ML, Barisani D, Barrett JC, Plagnol V, Deloukas P, Wijmenga C, van Heel DA. Trynka G, et al. Nat Genet. 2011 Nov 6;43(12):1193-201. doi: 10.1038/ng.998. Nat Genet. 2011. PMID: 22057235 Free PMC article.
Mapping of immune-mediated disease genes.
Ricaño-Ponce I, Wijmenga C. Ricaño-Ponce I, et al. Annu Rev Genomics Hum Genet. 2013;14:325-53. doi: 10.1146/annurev-genom-091212-153450. Epub 2013 Jul 3. Annu Rev Genomics Hum Genet. 2013. PMID: 23834318 Review.
Functional implications of disease-specific variants in loci jointly associated with coeliac disease and rheumatoid arthritis.
Gutierrez-Achury J, Zorro MM, Ricaño-Ponce I, Zhernakova DV; Coeliac Disease Immunochip Consortium, RACI Consortium; Diogo D, Raychaudhuri S, Franke L, Trynka G, Wijmenga C, Zhernakova A. Gutierrez-Achury J, et al. Hum Mol Genet. 2016 Jan 1;25(1):180-90. doi: 10.1093/hmg/ddv455. Epub 2015 Nov 5. Hum Mol Genet. 2016. PMID: 26546613 Free PMC article.
Immunochip meta-analysis in European and Argentinian populations identifies two novel genetic loci associated with celiac disease.
Ricaño-Ponce I, Gutierrez-Achury J, Costa AF, Deelen P, Kurilshikov A, Zorro MM, Platteel M, van der Graaf A; Consortium for the study of genetic associations of celiac disease in Latin-America; Sanna S, Daffra O, Zhernakova A, Fu J, Trynka G, Smecuol E, Niveloni SI, Bai JC, Kumar V, Wijmenga C. Ricaño-Ponce I, et al. Eur J Hum Genet. 2020 Mar;28(3):313-323. doi: 10.1038/s41431-019-0520-4. Epub 2019 Oct 7. Eur J Hum Genet. 2020. PMID: 31591516 Free PMC article.
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.
Tsoi LC, Spain SL, Knight J, Ellinghaus E, Stuart PE, Capon F, Ding J, Li Y, Tejasvi T, Gudjonsson JE, Kang HM, Allen MH, McManus R, Novelli G, Samuelsson L, Schalkwijk J, Ståhle M, Burden AD, Smith CH, Cork MJ, Estivill X, Bowcock AM, Krueger GG, Weger W, Worthington J, Tazi-Ahnini R, Nestle FO, Hayday A, Hoffmann P, Winkelmann J, Wijmenga C, Langford C, Edkins S, Andrews R, Blackburn H, Strange A, Band G, Pearson RD, Vukcevic D, Spencer CC, Deloukas P, Mrowietz U, Schreiber S, Weidinger S, Koks S, Kingo K, Esko T, Metspalu A, Lim HW, Voorhees JJ, Weichenthal M, Wichmann HE, Chandran V, Rosen CF, Rahman P, Gladman DD, Griffiths CE, Reis A, Kere J; Collaborative Association Study of Psoriasis (CASP); Genetic Analysis of Psoriasis Consortium; Psoriasis Association Genetics Extension; Wellcome Trust Case Control Consortium 2; Nair RP, Franke A, Barker JN, Abecasis GR, Elder JT, Trembath RC. Tsoi LC, et al. Nat Genet. 2012 Dec;44(12):1341-8. doi: 10.1038/ng.2467. Epub 2012 Nov 11. Nat Genet. 2012. PMID: 23143594 Free PMC article.
Genetics of celiac disease.
Ricaño-Ponce I, Wijmenga C, Gutierrez-Achury J. Ricaño-Ponce I, et al. Best Pract Res Clin Gastroenterol. 2015 Jun;29(3):399-412. doi: 10.1016/j.bpg.2015.04.004. Epub 2015 May 8. Best Pract Res Clin Gastroenterol. 2015. PMID: 26060105 Review.
Contrasting the Genetic Background of Type 1 Diabetes and Celiac Disease Autoimmunity.
Gutierrez-Achury J, Romanos J, Bakker SF, Kumar V, de Haas EC, Trynka G, Ricaño-Ponce I, Steck A; Type 1 Diabetes Genetics Consortium; Chen WM, Onengut-Gumuscu S, Simsek S; Diabeter; Rewers M, Mulder CJ, Liu E, Rich SS, Wijmenga C. Gutierrez-Achury J, et al. Diabetes Care. 2015 Oct;38 Suppl 2(Suppl 2):S37-44. doi: 10.2337/dcs15-2007. Diabetes Care. 2015. PMID: 26405070 Free PMC article.
Systematic annotation of celiac disease loci refines pathological pathways and suggests a genetic explanation for increased interferon-gamma levels.
Kumar V, Gutierrez-Achury J, Kanduri K, Almeida R, Hrdlickova B, Zhernakova DV, Westra HJ, Karjalainen J, Ricaño-Ponce I, Li Y, Stachurska A, Tigchelaar EF, Abdulahad WH, Lähdesmäki H, Hofker MH, Zhernakova A, Franke L, Lahesmaa R, Wijmenga C, Withoff S. Kumar V, et al. Hum Mol Genet. 2015 Jan 15;24(2):397-409. doi: 10.1093/hmg/ddu453. Epub 2014 Sep 4. Hum Mol Genet. 2015. PMID: 25190711
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