Human leukocyte antigen-DQ2 homozygosity and the development of refractory celiac disease and enteropathy-associated T-cell lymphoma

• Published in: Clinical gastroenterology and hepatology Vol. 4; no. 3; p. 315
• Main Authors: Al-Toma, Abdulbaqi, Goerres, Marije S, Meijer, Jos W R, Peña, A Salvador, Crusius, J Bart A, Mulder, Chris J J
• Format: Journal Article
• Language: English
• Published: United States 01-03-2006
• Subjects: Adult; Aged; Aged, 80 and over; Antigens, CD - metabolism; Case-Control Studies; Celiac Disease - genetics; Celiac Disease - metabolism; Celiac Disease - pathology; Female; Genetic Predisposition to Disease; HLA-DQ Antigens - genetics; Homozygote; Humans; Lymphoma, T-Cell - genetics; Lymphoma, T-Cell - metabolism; Lymphoma, T-Cell - pathology; Male; Middle Aged; Receptors, Antigen, T-Cell - metabolism
• ISSN: 1542-3565
• DOI: 10.1016/j.cgh.2005.12.011

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).
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.
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.
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.