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.

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.

(Enlarge Image)

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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Cite this: Genetic Background of Celiac Disease and Its Clinical Implications - Medscape - Jan 01, 2008.

Evidence for Genetic Susceptibility to Celiac Disease
Ethnic differences in disease incidence/prevalence	(21)
Familial aggregation	5-15% first-degree relatives of affected individuals are also affected
Familial aggregation	30% HLA identical sibs
Twin studies concordance rates	Monozygotic twins 83-86%
Twin studies concordance rates	Dizygotic twins 11%
Identification of susceptibility loci by genome screening	Chromosomes 2, 5, 6, 9, 15, 19
Genetic association studies of functional candidate genes	CTLA4
Association found with genetic syndromes	Down syndrome (57,58)
	Turner syndrome (59-62)
	Williams syndrome (63)

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Genetic Background of Celiac Disease and Its Clinical Implications

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