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Abstract

Autoimmune and inflammatory diseases are polygenic disorders of the immune system. Many genomic loci harbor risk alleles for several diseases, but the limited resolution ofgenetic mapping prevents determining whether the same allele is responsible, indicating a shared underlying mechanism. Here, using a collection of129,058 cases and controls across 6 diseases, we show that -40% of overlapping associations are due to the same allele. We improve fine-mapping resolution for shared alleles twofold by combining cases and controls across diseases, allowing usto identify more expression quantitative trait loci driven by the shared alleles. The patterns indicate widespread sharing of pathogenic mechanisms but not a single global autoimmune mechanism. Our approach can be applied to any set of traits and is particularly valuable as sample collections become depleted.

Details

Title
Genetic mapping across autoimmune diseases reveals shared associations and mechanisms
Author
Lincoln, Matthew R; Connally, Noah; Axisa, Pierre-Paul; Gasperi, Christiane; Mitrovic, Mitja; Van heel, David; Wijmenga, Cisca; Withoff, Sebo; Jonkers, Iris H; Padyukov, Leonid; Rich, Stephen S; Graham, Robert R; Gaffney, Patrick M; Langefeld, Carl D; Vyse, Timothy J; Hafler, David A; Chun, Sung; Sunyaev, Shamil R; Cotsapas, Chris
Pages
838-3,845A-845E
Section
Article
Publication year
2024
Publication date
May 2024
Publisher
Nature Publishing Group
ISSN
10614036
e-ISSN
15461718
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
3060833998
Copyright
Copyright Nature Publishing Group May 2024