PMID- 15626888 OWN - NLM STAT- MEDLINE DCOM- 20050131 LR - 20221207 IS - 1078-0998 (Print) IS - 1078-0998 (Linking) VI - 10 IP - 6 DP - 2004 Nov TI - IBD1 and IBD3 determine location of Crohn's disease in the Spanish population. PG - 715-22 AB - BACKGROUND: Crohn's disease is a heterogeneous disease from both genetic and clinical points of view. AIMS: To look for associations between distinct genetic polymorphisms and clinical subgroups of the disease. SUBJECTS: A total of 210 patients and 343 healthy control subjects, all adult, unrelated, white, Spanish individuals. METHODS: DNA was purified from peripheral blood samples and was typed by sequence-specific oligonucleotide polymerase chain reaction (PCR) method for human leukocyte antigen (HLA)-DRB1 alleles (IBD3) and by allele-specific PCR for NOD2/CARD15 (IBD1) polymorphisms. RESULTS: NOD2/CARD15 mutations and HLA-DRB1*07 confer susceptibility only to the ileal location of the disease, whereas HLA-DRB1*0103 is associated only with the colonic location of the disease. The IBD3 effect was overshadowed by IBD1 mutations when present. CONCLUSION: The studied genetic polymorphisms of Crohn's disease basically determine the location of the disease and, only secondarily, the clinical form of the disease. This appears to be true for both inflammatory bowel diseases as HLA-DRB1*0103 is associated both with colonic Crohn's disease and ulcerative colitis. FAU - Fernandez, Laura AU - Fernandez L AD - Department of Clinical Immunology, Hospital Clinico San Carlos, Madrid, Spain. FAU - Mendoza, Juan L AU - Mendoza JL FAU - Martinez, Alfonso AU - Martinez A FAU - Urcelay, Elena AU - Urcelay E FAU - Fernandez-Arquero, Miguel AU - Fernandez-Arquero M FAU - Garcia-Paredes, Julio AU - Garcia-Paredes J FAU - Pena, A Salvador AU - Pena AS FAU - Diaz-Rubio, Manuel AU - Diaz-Rubio M FAU - de la Concha, Emilio G AU - de la Concha EG LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - England TA - Inflamm Bowel Dis JT - Inflammatory bowel diseases JID - 9508162 RN - 0 (HLA-DR Antigens) RN - 0 (HLA-DRB1 Chains) RN - 0 (Intracellular Signaling Peptides and Proteins) RN - 0 (NOD2 protein, human) RN - 0 (Nod2 Signaling Adaptor Protein) RN - 9007-49-2 (DNA) SB - IM MH - Adolescent MH - Adult MH - Case-Control Studies MH - Child MH - Child, Preschool MH - Crohn Disease/*genetics MH - DNA/analysis/blood MH - Female MH - Genetic Predisposition to Disease MH - HLA-DR Antigens/genetics MH - HLA-DRB1 Chains MH - Humans MH - Infant MH - Intracellular Signaling Peptides and Proteins/genetics MH - Male MH - Nod2 Signaling Adaptor Protein MH - Polymerase Chain Reaction MH - Polymorphism, Genetic MH - Spain MH - White People/genetics EDAT- 2005/01/01 09:00 MHDA- 2005/02/03 09:00 CRDT- 2005/01/01 09:00 PHST- 2005/01/01 09:00 [pubmed] PHST- 2005/02/03 09:00 [medline] PHST- 2005/01/01 09:00 [entrez] AID - 00054725-200411000-00004 [pii] AID - 10.1097/00054725-200411000-00004 [doi] PST - ppublish SO - Inflamm Bowel Dis. 2004 Nov;10(6):715-22. doi: 10.1097/00054725-200411000-00004.