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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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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
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author Laisk, Triin
Lepamets, Maarja
Koel, Mariann
Abner, Erik
Mägi, Reedik
author_facet Laisk, Triin
Lepamets, Maarja
Koel, Mariann
Abner, Erik
Mägi, Reedik
author_sort Laisk, Triin
collection PubMed
description 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.
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spelling pubmed-82136952021-07-01 Genome-wide association study identifies five risk loci for pernicious anemia Laisk, Triin Lepamets, Maarja Koel, Mariann Abner, Erik Mägi, Reedik Nat Commun Article 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. Nature Publishing Group UK 2021-06-18 /pmc/articles/PMC8213695/ /pubmed/34145262 http://dx.doi.org/10.1038/s41467-021-24051-6 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Article
Laisk, Triin
Lepamets, Maarja
Koel, Mariann
Abner, Erik
Mägi, Reedik
Genome-wide association study identifies five risk loci for pernicious anemia
title Genome-wide association study identifies five risk loci for pernicious anemia
title_full Genome-wide association study identifies five risk loci for pernicious anemia
title_fullStr Genome-wide association study identifies five risk loci for pernicious anemia
title_full_unstemmed Genome-wide association study identifies five risk loci for pernicious anemia
title_short Genome-wide association study identifies five risk loci for pernicious anemia
title_sort genome-wide association study identifies five risk loci for pernicious anemia
topic Article
url 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
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