| Title: | Genome-wide association study identifies five risk loci for pernicious anemia |
| Journal: | Nature Communications |
| Published: | 18 Jun 2021 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/34145262/ |
| DOI: | https://doi.org/10.1038/s41467-021-24051-6 |
| URL: | https://www.nature.com/articles/s41467-021-24051-6.pdf |
Publication 9756
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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.</p>
5 Authors
- Triin Laisk
- Maarja Lepamets
- Mariann Koel
- Erik Abner
- Reedik Mägi
1 Application
| Application ID | Title |
|---|---|
| 17085 | Dissemination of shared genetics across phenotypes associated with reproductive health and related endophenotypes |
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