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Tissue transglutaminase autoantibodies and human leucocyte antigen in Down's syndrome patients with coeliac disease
Author(s) -
Agardh D,
Nilsson A,
Carlsson A,
Kockum I,
Lernmark Å,
Ivarsson SA
Publication year - 2002
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2002.tb01636.x
Subject(s) - tissue transglutaminase , medicine , autoantibody , coeliac disease , endomysium , human leukocyte antigen , immunology , malabsorption , antigen , antibody , immunopathology , immunoglobulin a , immunoglobulin g , pathology , gastroenterology , disease , biology , biochemistry , enzyme
The association between autoantibodies against tissue transglutaminase (tTG) and human leucocyte antigen (HLA)‐DQB1 alleles was tested in Down's syndrome (DS) patients with and without coeliac disease (CD). Immunoglobulin A (IgA) and G (IgG) anti‐tTG were measured in radioligand binding assays and compared with conventionally analysed IgA antibodies against gliadin (AGA) and IgA autoantibodies against endomysium (EMA) in 48 DS patients. HLA‐DQB1 typing was carried out by polymerase chain reaction and hybridization with allele‐specific probes in 41/48 patients. Both IgA‐tTG and IgG‐tTG, as well as EMA, were detected in 7/48 and AGA in 15/48 patients. Intestinal biopsy showed histopathological changes consistent with CD in 9/16 patients. HLA‐DQB1 typing, available for 8/9 patients with and for 33/39 without CD, demonstrated that 5/8 with CD had DQB1*02 compared with 7/33 of those without ( p = 0.0345). In patients with anti‐tTG, 5/6 had the DQB1*02 allele compared with 7/35 of those without ( p = 0.0053). Conclusions : Anti‐tTG are HLA‐DQB1*02‐associated autoantibodies which together could be useful screening tests for silent CD in DS patients. In patients with gastrointestinal symptoms or clinical signs of malabsorption, anti‐tTG should be combined with AGA to detect other forms of enteropathies and CD.