Genetc Markers in Celiac Disease

Resumen

Although the mode of inheritance of celiac disease (CD) is not completely understood, there isabundant evidence supportng the implicaton of genetc factors in susceptbility to CD and itsheritability has been estmated to be of about 87%. It has been known for a long tme that certain HLA alleles are the major contributors to CD risk.However, despite playing a determinant role in the pathogenesis of the disease, theircontributon to inheritance is modest (<50%) and it is believed that there must exist several non-HLA susceptbility loci, each one of them with a very small efect on the overall risk. Consequently, during the last years, a great amount of efort has been made to locate andidentfy those additonal susceptbility genes that might explain the genetcs of the disease.Linkage studies in families, candidate gene associaton studies and (more recently) genome-wideassociaton studies (GWAS) analyzing hundreds of thousands of Single-NucleotdePolymorphisms (SNPs) have been performed. These approaches have identfed several genesthat are associated with CD, but not all of them have been confrmed in subsequent studies.Besides, the contributon of the identfed genes remains modest, and a large part of the genetcsof CD stll remains to be clarifed.