Sammanfattning

Background. Autoimmune disease is one of the leading causes of morbidity and mortality worldwide. In Addison's disease, the adrenal glands are targeted by destructive autoimmunity. Despite being the most common cause of primary adrenal failure, little is known about its aetiology. Methods. To understand the genetic background of Addison's disease, we utilized the extensively characterized patients of the Swedish Addison Registry. We developed an extended exome capture array comprising a selected set of 1853 genes and their potential regulatory elements, for the purpose of sequencing 479 patients with Addison's disease and 1394 controls. Results. We identified BACH2 (rs62408233-A, OR = 2.01 (1.71-2.37), P = 1.66 x 10^-15, MAF 0.46/0.29 in cases/controls) as a novel gene associated with Addison's disease development. We also confirmed the previously known associations with the HLA complex. Conclusion. 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. Our results may enable future research towards preventive disease treatment.

Nyckelord

Addison Disease; BACH2 protein; genetic; genetic association studies; genetic predisposition to disease; human; polymorphism

Publicerad i

Journal of Internal Medicine
2016, Volym: 280, nummer: 6, sidor: 595-608

SLU författare

• Andersson, Göran

  • Institutionen för husdjurens biovetenskaper, Sveriges lantbruksuniversitet
    

Globala målen

SDG3 Säkerställa hälsosamma liv och främja välbefinnande för alla i alla åldrar


UKÄ forskningsämne

Genetik och förädling
Husdjursvetenskap


Publikationens identifierare

DOI: https://doi.org/10.1111/joim.12569

Permanent länk till denna sida (URI)

https://res.slu.se/id/publ/79763