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

Author

Listed:
  • Triin Laisk

    (University of Tartu)

  • Maarja Lepamets

    (University of Tartu
    University of Tartu)

  • Mariann Koel

    (University of Tartu
    University of Tartu)

  • Erik Abner

    (University of Tartu)

  • Reedik Mägi

    (University of Tartu)

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.

Suggested Citation

  • Triin Laisk & Maarja Lepamets & Mariann Koel & Erik Abner & Reedik Mägi, 2021. "Genome-wide association study identifies five risk loci for pernicious anemia," Nature Communications, Nature, vol. 12(1), pages 1-9, December.
    • Handle: RePEc:nat:natcom:v:12:y:2021:i:1:d:10.1038_s41467-021-24051-6
    DOI: 10.1038/s41467-021-24051-6
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