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

Gene Identification in CD

Two complementary approaches are used in the search for genetic susceptibility genes in CD: genetic linkage and genetic association studies. Genetic linkage studies make use of families with affected sibling pairs to identify chromosomal regions shared between the affected siblings above the mean of what is statistically expected. To identify the actual susceptibility locus we use genetic markers (SNPs; single nucleotide polymorphisms). Linkage regions usually encompass 10-100 genes. Once linkage is identified, the next step is a genetic association study to identify the specific disease gene from the candidate gene locus.

Candidate gene association studies search for differences in frequencies of genetic variants in patients compared to control individuals. Such association studies can focus on positional candidate genes from a linkage region, or on functional candidate genes selected from hypothesized disease pathology. More recently, it has become feasible to perform genome-wide association studies -- a hypothesis-free approach which can test thousands of SNPs across the whole genome for association.


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