Genetic Gluten Intolerance Risk

Analysis of the HLA-II DQ2/DQ8 alleles

Major Histocompatibility Complexes (MHC) code for a multitude of histocompatibility anti-

gens (HLA). These antigens determine the immunological individuality of each human. It is
well known that certain diseases are strongly asscociated with specific HLA profiles - so it is
also in the case of gluten intolerance/ celiac disease and the HLA class II locus.
Celiac disease/gluten intolerance is a chronic gastrointestinale disorder with a very high
prevalence (about 1:250 in Europe). The malabsorption symptoms (f. e. Diarrhoea, loose
stools, upper abdominal complaints) are caused by gliadins or analogous proteins in several
cereals. The (auto-) immunological disease always strikes individuals with the specific gene-
tic profile HLA-II DQ2 or HLA-II DQ8 [1, 2, 3]: The strong association with these specific risk
alleles (> 90 % of the patients are HLA-DQ2-positive - the remaining
MutaGEL® HLA-DQ 2+8 10 % are mostly HLA-DQ8-positive [4]) enables a differential diagno-
(KE09020) sis as well as a risk calculation by performing genetic typing of the
 Allows the individual HLA-DQ2/DQ8 DNA. Though about 20 - 25 % of normal (healthy) population carry
genotyping of patient`s DNA by amplifi- these HLA-DQ-alleles, a proven failure of these risk alleles excludes
celiac disease/ gluten intolerance nearly 100 % [5]!
cation of the encoding HLA-II DQ2/DQ8-
The MutaGEL® HLA-DQ 2+8 (KE09020) test from Immundiagnostik
alleles
allows the individual HLA-DQ2/DQ8 genotyping of patient`s DNA
Allel-specific PCR test
 by amplification of the encoding HLA-II DQ2/DQ8-alleles (Kit con-
tent sufficient for 20 determinations). For this purpose only a small
S ample material: isolated DNA (e.g.

 sample of EDTA-blood is necessary for a preliminary extraction of
extracted from whole blood, Sputum) DNA (reagents not included). The subsequent processing with
molecular biological methods leads to specific amplification
products detectable by gel electrophoresis.
Beside this PCR assay we offer immunoassays for the determina-
tion of anti-transglutaminase IgA antibodies from serum and anti-
transglutaminase sIgA/IgA from faeces. The tissue transglutami-
nase (tTG) and also the epidermal transglutaminase (TGe) have
been proven to be associated with gluten intolerance. The epider-
mal transglutaminase especially is associated with extraintestinal
manifestations like Dermatitis herpetiformis Duhring.

Literature:
[1] Greco L et al. (2002) Gut 50 (5): 624-628.
[2] Liu J et al. (2002) Am. J. Hum. Genet. 70 (1): 51-59.
[3] Pena A et al. (2001) Curr. Allergy Asthma Rep. 1 (6): 526-533.
[4] Sollid L et al. (2001) Acta Odontol. Scand. 59 (3): 183-186.
[5] Kaukinen K et al. (2002) Am. J. Gastroenterol. 97 (3): 695-699.
FLMB12 October 2017

[6] Collin P (1999) Ann. Med. 31 (6): 399-405.

[7] Mustalahti K et al. (2002) Scand. J. Gastroenterol. 37 (2): 161-165.
[8] Farre C et al. (1999) Dig. Dis. Sci. 44 (11): 2344-2349.
[9] Sher K et al. (1996) Acta Paediatr. Suppl. 412: 76-77.
[10] Collin P et al. (1996) Gut 39: 382-384.
[11] Riecken E O et al. (1998) Dtsch. Med. Wschr. 123: 1454-60.

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