Pernicious anemia – Genetic insights

Pernicious anemia (PA) is a complex, autoimmune, multi-factorial disease. Rapid progress has been made in the understanding of susceptibility to a spectrum of other autoimmune diseases through genome wide association studies (GWAS). However, PA has been conspicuous by its absence from this work. Here, we examine the evidence that PA has a significant heritable component through epidemiological evidence and its co-occurrence with other autoimmune diseases. Further, we consider how knowledge of the genetic susceptibility to other autoimmune diseases may provide insight into the etiology of PA.

► PA demonstrates familial clustering and coexists with multiple autoimmune diseases.
► Genetic studies could improve understanding of the pathology underlying PA.
► GWAS or candidate gene association studies are suitable models to explore the genetics of PA.
► The impact of such studies in PA can be broad due to its overlap with other autoimmune diseases.