PMID- 22224635 OWN - NLM STAT- MEDLINE DCOM- 20121022 LR - 20160511 IS - 1945-0257 (Electronic) IS - 1945-0257 (Linking) VI - 16 IP - 6 DP - 2012 Jun TI - Inflammatory bowel disease: susceptibility and disease heterogeneity revealed by human leukocyte antigen genotyping. PG - 482-7 LID - 10.1089/gtmb.2011.0132 [doi] AB - This study aimed to investigate the association between HLA DR/DQ and inflammatory bowel diseases (IBD) in Tunisian patients and to determine the relationship between HLA DR/DQ alleles with the clinical disease patterns. DNA typing of human leukocyte antigen (HLA) genes was performed in 70 ulcerative colitis (UC) patients, 40 Crohn's disease (CD) patients, and 123 healthy controls (HC) using a polymerase chain reaction sequence specific primer technique. Data were analyzed using Cochran-Mantel-Haenszel test and binary logistic regression. Compared with HC, IBD patients showed an increased frequency of the homozygous DRB1*07 genotype. This positive association was maintained when UC and CD were separately compared to HC. In UC patients, DQB1*03:02 was predictive of colonic extension whereas DRB1*13 and DQB1*03:01 were associated limited disease localization (left-sided colitis and proctitis). The DRB1*15 allele increased in patients with extraintestinal manifestations. In CD, female patients showed an increased frequency of DRB1*13, DRB1*15, and DQB1*06 alleles and DRB1*13-DQB1*06 haplotype, whereas a significant increase of DRB1*07, DQB1*02 alleles, and DRB1*07-DQB1*02 haplotype was noted in male patients. These results show a significant association of the homozygous HLA-DRB1*07 genotype with UC and CD and of several HLA DR/DQ alleles and haplotypes with the clinical phenotypes of these diseases in Tunisian patients. Because of limited statistical power, our study findings are subject to further investigation. FAU - Bouzid, Dorra AU - Bouzid D AD - Immunology Department, Habib Bourguiba Hospital, Sfax, Tunisia. dorra-ing@voila.fr FAU - Kammoun, Arwa AU - Kammoun A FAU - Amouri, Ali AU - Amouri A FAU - Mahfoudh, Nadia AU - Mahfoudh N FAU - Haddouk, Samy AU - Haddouk S FAU - Tahri, Nabil AU - Tahri N FAU - Makni, Hafedh AU - Makni H FAU - Masmoudi, Hatem AU - Masmoudi H LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20120106 PL - United States TA - Genet Test Mol Biomarkers JT - Genetic testing and molecular biomarkers JID - 101494210 RN - 0 (HLA-DQ Antigens) RN - 0 (HLA-DR Antigens) RN - 0 (HLA-DRB1 Chains) RN - 0 (Histocompatibility Antigens Class II) SB - IM MH - Adult MH - Alleles MH - Colitis, Ulcerative/*genetics/immunology/physiopathology MH - Crohn Disease/*genetics/immunology/physiopathology MH - Female MH - Gene Frequency MH - *Genetic Predisposition to Disease MH - Genotype MH - HLA-DQ Antigens/*genetics/immunology MH - HLA-DR Antigens/*genetics/immunology MH - HLA-DRB1 Chains/genetics MH - Haplotypes MH - Histocompatibility Antigens Class II/genetics/immunology MH - *Histocompatibility Testing MH - Humans MH - Inflammatory Bowel Diseases/*genetics/immunology/*physiopathology MH - Male MH - Phenotype MH - Tunisia EDAT- 2012/01/10 06:00 MHDA- 2012/10/23 06:00 CRDT- 2012/01/10 06:00 PHST- 2012/01/10 06:00 [entrez] PHST- 2012/01/10 06:00 [pubmed] PHST- 2012/10/23 06:00 [medline] AID - 10.1089/gtmb.2011.0132 [doi] PST - ppublish SO - Genet Test Mol Biomarkers. 2012 Jun;16(6):482-7. doi: 10.1089/gtmb.2011.0132. Epub 2012 Jan 6.