Genetic Background of Celiac Disease and Its Clinical Implications

Victorien M. Wolters, M.D.; Cisca Wijmenga, Ph.D.


Am J Gastroenterol. 2008;103(1):190-195. 

In This Article

Genetic Association Studies

Although increasing data pinpoint CTLA4 as a candidate gene, results of association studies did not support certain polymorphisms in CTLA4 being the major susceptibility locus for CD.[14,28,29,32,34,42,43,44] A recent study analyzing all common SNPs in CTLA4 suggested an association on the haplotype level rather than on the single SNP variant level.[34] In Figure 2, the suggested genetic loci of CD are shown.

Genetic loci in CD.

Other studies did not confirm association for promising genes like tTG, FAS, MMP-1 and 3, TCR αßγδ, IL12ß, CD28, CD80, CD86, KIR, LILR, STAT 1, PGPEP1, IRF1, DPPIV, TGM2, NOS2, or IFNγ.[35]


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