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Pernicious anemia is a rare condition characterized by vitamin B12 deficiency anemia due to lack of intrinsic factor, often caused by autoimmune gastritis. Patients with pernicious anemia have a higher incidence of other autoimmune disorders, such as type 1 diabetes, vitiligo, and autoimmune thyroid issues. Therefore, the disease has a clear autoimmune basis, although the genetic susceptibility factors have thus far remained poorly studied. We conduct a genome-wide association study meta-analysis in 2166 cases and 659,516 European controls from population-based biobanks and identify genome-wide significant signals in or near the  PTPN22 ( rs6679677,  p  = 1.91 × 10 −24 , OR = 1.63 ) ,  PNPT1  (rs12616502,  p  = 3.14 × 10 −8 , OR = 1.70),  HLA-DQB1  (rs28414666,  p  = 1.40 × 10 −16 , OR = 1.38),  IL2RA  (rs2476491,  p  = 1.90 × 10 −8 , OR = 1.22) and  AIRE  (rs74203920,  p  = 2.33 × 10 −9 , OR = 1.83) genes, thus providing robust associations between pernicious anemia and genetic risk factors.

Genome-wide association study identifies five risk loci for pernicious anemia