PMID- 16527694 OWN - NLM STAT- MEDLINE DCOM- 20060606 LR - 20111117 IS - 1542-3565 (Print) IS - 1542-3565 (Linking) VI - 4 IP - 3 DP - 2006 Mar TI - Human leukocyte antigen-DQ2 homozygosity and the development of refractory celiac disease and enteropathy-associated T-cell lymphoma. PG - 315-9 AB - BACKGROUND & AIMS: Celiac disease (CD) is a common gluten-sensitive enteropathy associated with human leukocyte antigen (HLA)-DQ2 and HLA-DQ8. The aim of this study was to determine if a particular HLA-DQ subtype predisposes to complications such as refractory CD with (RCD II) or without aberrant T cells (RCD I), and enteropathy-associated T-cell lymphomas (EATL). METHODS: Molecular HLA-DQ typing was performed on 43 RCD I, 43 RCD II, and 30 EATL patients, and compared with age-matched groups of 121 patients with histologically defined uncomplicated CD and 183 healthy controls. All individuals were Dutch Caucasians and were at least 21 years of age. RESULTS: HLA-DQ2 was present in 79% of RCD I, 97.7% of RCD II, and 96.6% of EATL patients. The differences were significant when compared with 28.9% in controls but not with 91.7% in uncomplicated CD. Homozygosity for HLA-DQ2 was observed in 25.5% of RCD I, 44.1% of RCD II, and 53.3% of EATL patients vs 20.7% of uncomplicated CD patients and 2.1% of controls. HLA-DQ8 was present in 10.7% of CD, 16.2% of RCD I, 9.3% of RCD II, and 6.6% of EATL patients vs 20.2% of controls. CONCLUSIONS: Homozygosity for HLA-DQ2 is associated with RCD II and EATL. Early identification of HLA-DQ2 homozygous CD patients may help to recognize CD patients at risk for developing these severe complications. FAU - Al-Toma, Abdulbaqi AU - Al-Toma A AD - Department of Gastroenterology, VU University Medical Center, Amsterdam, The Netherlands. FAU - Goerres, Marije S AU - Goerres MS FAU - Meijer, Jos W R AU - Meijer JW FAU - Pena, A Salvador AU - Pena AS FAU - Crusius, J Bart A AU - Crusius JB FAU - Mulder, Chris J J AU - Mulder CJ LA - eng PT - Journal Article PL - United States TA - Clin Gastroenterol Hepatol JT - Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association JID - 101160775 RN - 0 (Antigens, CD) RN - 0 (HLA-DQ Antigens) RN - 0 (HLA-DQ2 antigen) RN - 0 (Receptors, Antigen, T-Cell) SB - IM MH - Adult MH - Aged MH - Aged, 80 and over MH - Antigens, CD/metabolism MH - Case-Control Studies MH - Celiac Disease/*genetics/metabolism/pathology MH - Female MH - Genetic Predisposition to Disease MH - HLA-DQ Antigens/*genetics MH - *Homozygote MH - Humans MH - Lymphoma, T-Cell/*genetics/metabolism/pathology MH - Male MH - Middle Aged MH - Receptors, Antigen, T-Cell/metabolism EDAT- 2006/03/11 09:00 MHDA- 2006/06/07 09:00 CRDT- 2006/03/11 09:00 PHST- 2006/03/11 09:00 [pubmed] PHST- 2006/06/07 09:00 [medline] PHST- 2006/03/11 09:00 [entrez] AID - S1542-3565(05)01182-1 [pii] AID - 10.1016/j.cgh.2005.12.011 [doi] PST - ppublish SO - Clin Gastroenterol Hepatol. 2006 Mar;4(3):315-9. doi: 10.1016/j.cgh.2005.12.011.