| First Author | Laisk T | Year | 2021 |
| Journal | Nat Commun | Volume | 12 |
| Issue | 1 | Pages | 3761 |
| PubMed ID | 34145262 | Mgi Jnum | J:337111 |
| Mgi Id | MGI:6725501 | Doi | 10.1038/s41467-021-24051-6 |
| Citation | Laisk T, et al. (2021) Genome-wide association study identifies five risk loci for pernicious anemia. Nat Commun 12(1):3761 |
| abstractText | 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 x 10(-24), OR = 1.63), PNPT1 (rs12616502, p = 3.14 x 10(-8), OR = 1.70), HLA-DQB1 (rs28414666, p = 1.40 x 10(-16), OR = 1.38), IL2RA (rs2476491, p = 1.90 x 10(-8), OR = 1.22) and AIRE (rs74203920, p = 2.33 x 10(-9), OR = 1.83) genes, thus providing robust associations between pernicious anemia and genetic risk factors. |
