Genetic markers in celiac disease

Nora Fernández-Jiménez, Leticia Plaza Izurieta, José Ramon Bilbao


Although the mode of inheritance of celiac disease (CD) is not completely understood, there is abundant evidence supporting the implication of genetic factors in susceptibility to CD and its heritability has been estimated to be of about 87%.

It has been known for a long time that certain HLA alleles are the major contributors to CD risk.However, despite playing a determinant role in the pathogenesis of the disease, their contribution to inheritance is modest (<50%) and it is believed that there must exist several non-HLA susceptibility loci, each one of them with a very small efect on the overall risk.

Consequently, during the last years, a great amount of effort has been made to locate and identify those additional susceptibility genes that might explain the genetics of the disease. Linkage studies in families, candidate gene association studies and (more recently) genome-wide association studies (GWAS) analyzing hundreds of thousands of Single-Nucleotde Polymorphisms (SNPs) have been performed. These approaches have identified several genes that are associated with CD, but not all of them have been confirmed in subsequent studies. Besides, the contribution of the identified genes remains modest, and a large part of the genetics of CD still remains to be clarified.

Palabras clave

celiac, genetic markers, inheritance

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