Investigation of multiple susceptibility loci for inflammatory bowel disease in an Italian cohort of patients.
Investigation of multiple susceptibility loci for inflammatory bowel disease in an Italian cohort of patients.
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DOI：
10.1371/journal.pone.0022688
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发表时间：
2011
期刊：
影响因子：
3.7
通讯作者：
Annese V
中科院分区：
文献类型：
--
作者：
Latiano A;Palmieri O;Latiano T;Corritore G;Bossa F;Martino G;Biscaglia G;Scimeca D;Valvano MR;Pastore M;Marseglia A;D'Incà R;Andriulli A;Annese V
最近的 GWA 和荟萃分析概述了大约 100 个炎症性肠病 (IBD) 的易感基因/位点。在这项研究中，我们旨在调查在大型儿童和成人发病的 IBD 意大利队列中标记基因/位点 PTGER4、TNFSF15、NKX2-3、ZNF365、IFNG、PTPN2、PSMG1 和 HLA 的 SNP 的影响。在 1,070 名克罗恩病 (CD)、1,213 名溃疡性结肠炎 (UC)（其中 557 名在 ≤ 16 岁的年龄被诊断）和 789 名健康对照者中评估了 8 个 SNP。研究了与 NOD2 基因亚表型和主要变异的相关性。标记 TNFSF15、NKX2-3、ZNF365 和 PTPN2 基因的 SNP 与 CD 相关（P 值范围为 0.037 至 7×10−6）。标记 PTGER4、NKX2-3、ZNF365、IFNG、PSMG1 和 HLA 区域的 SNP 与 UC 相关（P 值 0.047 至 4×10−5）。在儿科队列中，证实了 TNFSF15、NKX2-3 与 CD 的关联，以及 PTGER4、NKX2-3、ZNF365、IFNG、PSMG1 与 UC 的关联。还报道了与 TNFSF15 和儿童 UC 的关联。在 UC 患者中观察到 NKX2-3 与手术需求的相关性 (P = 0.038)，以及与 HLA 和类固醇反应性的相关性 (P = 0.024)。此外，我们的 CD 队列中的 TNFSF15 SNP 和结肠受累 (P = 0.021) 以及 ZNF365 和回肠位置 (P = 0.024) 之间存在显着相关性。我们在意大利的一个大型队列中证实了新发现的基因与 CD 和 UC 的关联，无论是在成人还是儿童患者队列中，对亚表型都有一定影响。
Recent GWAs and meta-analyses have outlined about 100 susceptibility genes/loci for inflammatory bowel diseases (IBD). In this study we aimed to investigate the influence of SNPs tagging the genes/loci PTGER4, TNFSF15, NKX2-3, ZNF365, IFNG, PTPN2, PSMG1, and HLA in a large pediatric- and adult-onset IBD Italian cohort. Eight SNPs were assessed in 1,070 Crohn's disease (CD), 1,213 ulcerative colitis (UC), 557 of whom being diagnosed at the age of ≤16 years, and 789 healthy controls. Correlations with sub-phenotypes and major variants of NOD2 gene were investigated. The SNPs tagging the TNFSF15, NKX2-3, ZNF365, and PTPN2 genes were associated with CD (P values ranging from 0.037 to 7×10−6). The SNPs tagging the PTGER4, NKX2-3, ZNF365, IFNG, PSMG1, and HLA area were associated with UC (P values 0.047 to 4×10−5). In the pediatric cohort the associations of TNFSF15, NKX2-3 with CD, and PTGER4, NKX2-3, ZNF365, IFNG, PSMG1 with UC, were confirmed. Association with TNFSF15 and pediatric UC was also reported. A correlation with NKX2-3 and need for surgery (P = 0.038), and with HLA and steroid-responsiveness (P = 0.024) in UC patients was observed. Moreover, significant association in our CD cohort with TNFSF15 SNP and colonic involvement (P = 0.021), and with ZNF365 and ileal location (P = 0.024) was demonstrated. We confirmed in a large Italian cohort the associations with CD and UC of newly identified genes, both in adult and pediatric cohort of patients, with some influence on sub-phenotypes.
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影响因子：
30.8
作者：
通讯作者：
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影响因子：
30.8
作者：
Fisher, Sheila A.;Tremelling, Mark;Anderson, Carl A.;Gwilliam, Rhian;Bumpstead, Suzannah;Prescott, Natalie J.;Nimmo, Elaine R.;Massey, Dunecan;Berzuini, Carlo;Johnson, Christopher;Barrett, Jeffrey C.;Cummings, Fraser R.;Drummond, Hazel;Lees, Charlie W.;Onnie, Clive M.;Hanson, Catherine E.;Blaszczyk, Katarzyna;Inouye, Mike;Ewels, Philip;Ravindrarajah, Radhi;Keniry, Andrew;Hunt, Sarah;Carter, Martyn;Watkins, Nick;Ouwehand, Willem;Lewis, Cathryn M.;Cardon, Lon;Lobo, Alan;Forbes, Alastair;Sanderson, Jeremy;Jewell, Derek P.;Mansfield, John C.;Deloukas, Panos;Mathew, Christopher G.;Parkes, Miles;Satsangi, Jack
通讯作者：
Satsangi, Jack
影响因子：
30.8
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影响因子：
30.8
作者：
Kugathasan, Subra;Baldassano, Robert N.;Bradfield, Jonathan P.;Sleiman, Patrick M. A.;Imielinski, Marcin;Guthery, Stephen L.;Cucchiara, Salvatore;Kim, Cecilia E.;Frackelton, Edward C.;Annaiah, Kiran;Glessner, Joseph T.;Santa, Erin;Willson, Tara;Eckert, Andrew W.;Bonkowski, Erin;Shaner, Julie L.;Smith, Ryan M.;Otieno, F. George;Peterson, Nicholas;Abrams, Debra J.;Chiavacci, Rosetta M.;Grundmeier, Robert;Mamula, Petar;Tomer, Gitit;Piccoli, David A.;Monos, Dimitri S.;Annese, Vito;Denson, Lee A.;Grant, Struan F. A.;Hakonarson, Hakon
通讯作者：
Hakonarson, Hakon
影响因子：
4.5
作者：
Libioulle C;Louis E;Hansoul S;Sandor C;Farnir F;Franchimont D;Vermeire S;Dewit O;de Vos M;Dixon A;Demarche B;Gut I;Heath S;Foglio M;Liang L;Laukens D;Mni M;Zelenika D;Van Gossum A;Rutgeerts P;Belaiche J;Lathrop M;Georges M
通讯作者：
Georges M