Prevalence of genetic markers of celiac disease in different populations

Despite the fact that celiac disease has been described for a long time, the role of genetic factors and mechanisms of predisposition and/or resistance to celiac disease has not yet been fully determined. Factors such as the presence of HLA (heterodimers of DQ2 and DQ8) and gluten as a trigger are necessary but not sufficient for the development of celiac disease. This statement is supported by studies showing that celiac disease has been diagnosed in patients without the presence of any recognized risk factors. For a long time, celiac disease was considered rare in Asia, but several studies published over the past two decades have shown that CD is detected and as widespread in the Indian subcontinent and the Middle East as in Western countries. Among the Far Eastern countries, reports of CD are particularly rare in both Korea and Japan, but the incidence of the disease in these countries is steadily increasing. Of great interest is the analysis of the prevalence of HLA haplotypes in the Japanese population, as an example of a “non-classical” population, in which the frequencies may not correspond to those described for Western Europe. Thus, an increase in the number of genome-wide studies and sample sizes allows not only to map new regions of predisposition to the genetic map of celiac disease, but also new genetic variants of already known genes, as well as new genes, which in turn allows us to identify and detail already known mechanisms of development and progression of the disease on the way to its therapy.