Genome-wide association studies (GWAS) and candidate gene studies in ulcerative colitis (UC) have identified 18 susceptibility loci. We conducted a meta-analysis of 6 UC GWAS, comprising 6,687 cases and 19,718 controls, and followed-up the top association signals in 9,628 cases and 12,917 controls. We identified 29 additional risk loci (P<5×10-8), increasing the number of UC associated loci to 47. After annotating associated regions using GRAIL, eQTL data and correlations with non-synonymous SNPs, we identified many candidate genes providing potentially important insights into disease pathogenesis, including IL1R2, IL8RA/B, IL7R, IL12B, DAP, PRDM1, JAK2, IRF5, GNA12 and LSP1. The total number of confirmed inflammatory bowel disease (IBD) risk loci is now 99, including a minimum of 28 shared association signals between Crohn’s disease (CD) and UC.

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47 / Anderson CA; Boucher G; Lees CW; Franke A; D'Amato M; Taylor KD; Lee JC; Goyette P; Imielinski M; Latiano A; Lagacé C; Scott R; Amininejad L; Bumpstead S; Baidoo L; Baldassano RN; Barclay M; Bayless TM; Brand S; Büning C; Colombel JF; Denson LA; De Vos M; Dubinsky M; Edwards C; Ellinghaus D; Fehrmann RS; Floyd JA; Florin T; Franchimont D; Franke L; Georges M; Glas J; Glazer NL; Guthery SL; Haritunians T; Hayward NK; Hugot JP; Jobin G; Laukens D; Lawrance I; Lémann M; Levine A; Libioulle C; Louis E; McGovern DP; Milla M; Montgomery GW; Morley KI; Mowat C; Ng A; Newman W; Ophoff RA; Papi L; Palmieri O; Peyrin-Biroulet L; Panés J; Phillips A; Prescott NJ; Proctor DD; Roberts R; Russell R; Rutgeerts P; Sanderson J; Sans M; Schumm P; Seibold F; Sharma Y; Simms LA; Seielstad M; Steinhart AH; Targan SR; van den Berg LH; Vatn M; Verspaget H; Walters T; Wijmenga C; Wilson DC; Westra HJ; Xavier RJ; Zhao ZZ; Ponsioen CY; Andersen V; Torkvist L; Gazouli M; Anagnou NP; Karlsen TH; Kupcinskas L; Sventoraityte J; Mansfield JC; Kugathasan S; Silverberg MS; Halfvarson J; Rotter JI; Mathew CG; Griffiths AM; Gearry R; Ahmad T; Brant SR; Chamaillard M; Satsangi J; Cho JH; Schreiber S; Daly MJ; Barrett JC; Parkes M; Annese V; Hakonarson H; Radford-Smith G; Duerr RH; Vermeire S; Weersma RK; Rioux JD.. - In: NATURE GENETICS. - ISSN 1061-4036. - STAMPA. - 43:(2011), pp. 246-252. [10.1038/ng0911-919b]

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

PAPI, LAURA;
2011

Abstract

Genome-wide association studies (GWAS) and candidate gene studies in ulcerative colitis (UC) have identified 18 susceptibility loci. We conducted a meta-analysis of 6 UC GWAS, comprising 6,687 cases and 19,718 controls, and followed-up the top association signals in 9,628 cases and 12,917 controls. We identified 29 additional risk loci (P<5×10-8), increasing the number of UC associated loci to 47. After annotating associated regions using GRAIL, eQTL data and correlations with non-synonymous SNPs, we identified many candidate genes providing potentially important insights into disease pathogenesis, including IL1R2, IL8RA/B, IL7R, IL12B, DAP, PRDM1, JAK2, IRF5, GNA12 and LSP1. The total number of confirmed inflammatory bowel disease (IBD) risk loci is now 99, including a minimum of 28 shared association signals between Crohn’s disease (CD) and UC.
2011
43
246
252
Anderson CA; Boucher G; Lees CW; Franke A; D'Amato M; Taylor KD; Lee JC; Goyette P; Imielinski M; Latiano A; Lagacé C; Scott R; Amininejad L; Bumpstead S; Baidoo L; Baldassano RN; Barclay M; Bayless TM; Brand S; Büning C; Colombel JF; Denson LA; De Vos M; Dubinsky M; Edwards C; Ellinghaus D; Fehrmann RS; Floyd JA; Florin T; Franchimont D; Franke L; Georges M; Glas J; Glazer NL; Guthery SL; Haritunians T; Hayward NK; Hugot JP; Jobin G; Laukens D; Lawrance I; Lémann M; Levine A; Libioulle C; Louis E; McGovern DP; Milla M; Montgomery GW; Morley KI; Mowat C; Ng A; Newman W; Ophoff RA; Papi L; Palmieri O; Peyrin-Biroulet L; Panés J; Phillips A; Prescott NJ; Proctor DD; Roberts R; Russell R; Rutgeerts P; Sanderson J; Sans M; Schumm P; Seibold F; Sharma Y; Simms LA; Seielstad M; Steinhart AH; Targan SR; van den Berg LH; Vatn M; Verspaget H; Walters T; Wijmenga C; Wilson DC; Westra HJ; Xavier RJ; Zhao ZZ; Ponsioen CY; Andersen V; Torkvist L; Gazouli M; Anagnou NP; Karlsen TH; Kupcinskas L; Sventoraityte J; Mansfield JC; Kugathasan S; Silverberg MS; Halfvarson J; Rotter JI; Mathew CG; Griffiths AM; Gearry R; Ahmad T; Brant SR; Chamaillard M; Satsangi J; Cho JH; Schreiber S; Daly MJ; Barrett JC; Parkes M; Annese V; Hakonarson H; Radford-Smith G; Duerr RH; Vermeire S; Weersma RK; Rioux JD.
File in questo prodotto:
File Dimensione Formato  
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.pdf

Accesso chiuso

Tipologia: Pdf editoriale (Version of record)
Licenza: Tutti i diritti riservati
Dimensione 166.64 kB
Formato Adobe PDF
166.64 kB Adobe PDF   Richiedi una copia

I documenti in FLORE sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/573701
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 1086
  • ???jsp.display-item.citation.isi??? 6
social impact