HealthDay News — BACH2 is a major risk locus for Addison’s disease, according to a study published in the Journal of Internal Medicine.
Daniel Eriksson, MD, from the Karolinska Institutet in Stockholm, and colleagues used data from extensively characterized patients of the Swedish Addison Registry to understand the genetic background of Addison’s disease. An extended exome capture array was developed for the purpose of sequencing 479 patients with Addison’s disease and 1394 controls; the array comprised a selected set of 1853 genes and their potential regulatory elements.
The researchers identified BACH2 as a novel gene that correlated with development of Addison’s disease (rs62408233-A, odds ratio, 2.01). The previously identified correlation with the human leukocyte antigen complex was also confirmed.
“Whilst BACH2 has been previously reported to associate with organ-specific autoimmune diseases co-inherited with Addison’s disease, we have identified BACH2 as a major risk locus in Addison’s disease, independent of concomitant autoimmune diseases,” the researchers wrote.
- Eriksson D, Bianchi M, Landegren N, et al. Extended exome sequencing identifies BACH2 as a novel major risk locus for Addison’s disease. J Intern Med. 2016 Nov 11. doi:10.1111/joim.12569 [Epub ahead of print].