Genetics of Celiac Disease: HLA and non-HLA genes

Leticia Plaza Izurieta, Nora Fernandez-Jimenez, Jose Ramon Bilbao


Although the mode of inheritance of celiac disease is still unknown, it has been known for a long time that Genetics participates in the susceptibility to the disease. Studies on the prevalence of CD in affected families, and especially those comparing twin pairs, have been very useful to estimate the proportion in which environmental and genetic factors contribute to the development of this complex disorder. According to these studies, Genetics is a fundamental player both in the triggering and in the latter development of CD.

In general, it is well accepted that the proportion of monozygotic or identical twins concordant for CD is around 75-86%, while in the case of dizygotic twins, this proportion is reduced to 16-20%. This difference between mono- and di-zygotic twins has allowed scientists to estimate the genetic component of CD, which is higher than what has been calculated for other immunological complex diseases, such as type 1 diabetes (T1D) (around 30% concordance in monozygotic and 6% in dizygotic twins) (Sollid et al., 1993). Moreover, concordance rates between sib pairs and dizygotic twins are almost the same, indicating that the environmental component has a minimum contribution to the risk of developing CD. In summary, accumulated evidence suggests that CD has a very strong genetic component and it has been calculated that the heritability of this disease (proportion of the risk of suffering from CD attributable to genetic factors, compared to environmental determinants) is around 87% (Greco et al., 2002). The largest portion of the genetic risk to develop CD comes from the presence of certain Human Leucocyte Antigen (HLA) alleles. However, even if the role of these HLA molecules is essential in the pathogenesis of the disease, their contribution to the heredity is modest, and thus, it has been hypothesized on the existence of many small effect, non-HLA susceptibility loci

Palabras clave

Celiac disease, Autoimmune disease, Immune-mediated disease, HLA, Linkage studies, Genome-wide association studies (GWAS), Gene expression, Pathway analysis

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