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

Triin Laisk (), Maarja Lepamets, Mariann Koel, Erik Abner and Reedik Mägi
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Triin Laisk: University of Tartu
Maarja Lepamets: University of Tartu
Mariann Koel: University of Tartu
Erik Abner: University of Tartu
Reedik Mägi: University of Tartu

Nature Communications, 2021, vol. 12, issue 1, 1-9

Abstract: Abstract 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.

Date: 2021
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DOI: 10.1038/s41467-021-24051-6

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