Genome-wide association study identifies five risk loci for pernicious anemia.
other · Level V
Where this comes from
- Record sourced from PubMed, PMID 34145262.
- Also identified by DOI 10.1038/s41467-021-24051-6 and PMC identifier 8213695.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
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<sup>-24</sup>, OR = 1.63), PNPT1 (rs12616502, p = 3.14 × 10<sup>-8</sup>, OR = 1.70), HLA-DQB1 (rs28414666, p = 1.40 × 10<sup>-16</sup>, OR = 1.38), IL2RA (rs2476491, p = 1.90 × 10<sup>-8</sup>, OR = 1.22) and AIRE (rs74203920, p = 2.33 × 10<sup>-9</sup>, OR = 1.83) genes, thus providing robust associations between pernicious anemia and genetic risk factors.
Medical subject headings
- Anemia, Pernicious
- Autoimmune Diseases
- Genetic Predisposition to Disease