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

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...

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Detalles Bibliográficos
Autores principales: Laisk, Triin, Lepamets, Maarja, Koel, Mariann, Abner, Erik, Mägi, Reedik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8213695/
https://www.ncbi.nlm.nih.gov/pubmed/34145262
http://dx.doi.org/10.1038/s41467-021-24051-6
Descripción
Sumario: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.