{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,8]],"date-time":"2025-11-08T22:38:28Z","timestamp":1762641508073,"version":"3.40.4"},"reference-count":29,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dig Surg"],"published-print":{"date-parts":[[2012]]},"abstract":"<i>Aim:<\/i> To investigate genotype-phenotype correlations in patients with perianal Crohn\u2019s disease (PCD) in order to determine which factors predispose to development of perianal disease in Crohn\u2019s patients. <i>Methods:<\/i> Seven-hundred and ninety-five Caucasian individuals (317 CD patients and 478 controls without inflammatory bowel disease, IBD) were prospectively enrolled into a clinical\/genetic database. Demographic and clinical data, as well as peripheral blood leukocyte DNA were obtained from all patients. The following were evaluated: three <i>NOD2\/CARD15 <\/i>polymorphisms: R702W, G908R, and 1007insC; five <i>IL-23r<\/i> risk alleles: rs1004819, rs10489629, rs2201841, rs11465804, and rs11209026; a well-characterized single-nucleotide polymorphism (SNP) on the <i>IBD5<\/i> risk haplotype <i>(OCTN1) <\/i>and two peripheral tag SNPs (<i>IGR2060<\/i> and <i>IGR3096<\/i>). <i>Results:<\/i> PCD occurred in 147 (46%) of CD patients. There was no significant difference in the age at disease diagnosis between non-PCD and PCD patients (33 vs. 29 years, respectively). PCD patients were more likely to have disease located in the colon and ileocolic regions (79 PCD vs. 57% non-PCD; n = 116 vs. n = 96; p < 0.001), whereas patients with non-PCD were more likely to have Crohn\u2019s within the terminal ileum and upper gastrointestinal tract (43% non-PCD vs. 21% PCD; n = 73 vs. n = 31; p < 0.05). Thirty-four percent of patients with PCD required a permanent ileostomy (n = 50) compared to only 4% of non-PCD patients (n = 6; p < 0.05). Mutations in <i>CARD15\/NOD2<\/i> and <i>IL-23r<\/i> were risk factors for CD overall; however, in contrast to prior reports, in this patient population, <i>OCTN1<\/i> and <i>IGR<\/i> variations within the <i>IBD5 <\/i>haplotype were not significant predictors of PCD. <i>Conclusion:<\/i> Colon\/ileocolic CD location appears to be a significant predictor of perianal manifestations of CD. Patients with PCD are more likely to require permanent fecal diversion. We did not identify any genetic variations or combination of clinical findings and genetic variations within the <i>CARD15\/NOD2<\/i>, <i>IL-23r<\/i>, and <i>OCTN1 <\/i>genes or <i>IGR<\/i> that were predictive of PCD.<\/jats:p>","DOI":"10.1159\/000335745","type":"journal-article","created":{"date-parts":[[2012,3,23]],"date-time":"2012-03-23T06:53:33Z","timestamp":1332485613000},"page":"107-114","source":"Crossref","is-referenced-by-count":14,"title":["Perianal Crohn\u2019s Disease: Predictive Factors and Genotype-Phenotype Correlations"],"prefix":"10.1159","volume":"29","author":[{"given":"Ziad","family":"Kanaan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Surriya","family":"Ahmad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia","family":"Bilchuk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Crystal","family":"Vahrenhold","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianmin","family":"Pan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan","family":"Galandiuk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2012,3,22]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.gastro.2003.08.024"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1097%2F01.sla.0000161030.25860.c1"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.gastro.2003.08.025"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.dld.2007.07.154"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1007%2Fs10620-006-9208-z"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002%2Fibd.20922"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038%2Fng1339"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1097%2F01.sla.0000186173.14696.ea"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1053%2Fj.gastro.2004.01.063"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.3748%2Fwjg.v16.i21.2600"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002%2Fibd.20975"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1572-0241.2006.00389.x"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2036.2006.02780.x"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1053%2Fj.gastro.2005.10.006"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1007%2Fs10620-010-1331-1"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1572-0241.2007.01277.x"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1136%2Fgut.2003.035600"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1097%2F00054725-200207000-00002"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1053%2Fgast.1996.v111.pm8780562"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1016%2FS0016-5085%2803%2900385-8"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1080%2F003655200451207"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1007%2FDCR.0b013e3181fc9f04"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1136%2Fgut.21.6.525"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1053%2Fgast.2002.32362"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1097%2F00054725-200405000-00004"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1053%2Fj.gastro.2005.09.025"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1056%2FNEJMra020831"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1056%2FNEJM199905063401804"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1053%2Fj.gastro.2004.11.056"}],"container-title":["Digestive Surgery"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/335745","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/335745","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T19:00:14Z","timestamp":1745434814000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000335745"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012]]},"references-count":29,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2012,6,1]]},"published-print":{"date-parts":[[2012,6,19]]}},"URL":"https:\/\/doi.org\/10.1159\/000335745","archive":["Portico"],"relation":{},"ISSN":["0253-4886","1421-9883"],"issn-type":[{"type":"print","value":"0253-4886"},{"type":"electronic","value":"1421-9883"}],"subject":[],"published":{"date-parts":[[2012]]}}}