EA3 study: Immune-mediated diseases

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Sandbox directory

Latest version

/finngen/library-red/EA3_IMMUNE_MEDIATED_DISEASES_IBD_1.0/

/finngen/library-red/EA3_IMMUNE_MEDIATED_DISEASES_RHEUMA_1.0/

Study description

Expansion Area 3 (EA3) studies aim to acquire additional clinical data centered around specific diseases through biobanks.

Aim: The immune-mediated diseases deep phenotyping study aimed to investigate the genetic background of different phenotypes in rheumatic diseases and inflammatory bowel diseases (IBD), as well as evaluate genetic impact on disease risk and prediction, disease progression and treatment responses. Rheumatoid diseases and IBD can be both categorized as inflammatory diseases and they share similar disease mechanisms. Therefore, the study aims to evaluate the pleiotropy between these disease entities.

Methods: Data was captured from five biobanks, Auria, Helsinki, Borealis, Central Finland, and Eastern Finland biobanks. Laboratory database searches were done for laboratory measurements used for assessing diseases activity, and for drugs administrated in hospitals (infliximab, belimumab, rituximab, abatacept, tocilizumab, ustekinumab, and vedolizumab).

Data: The Immune-mediated diseases data has been placed in the Sandbox and is available for analysis. Samples are from DF11 and the data has been collected from 5/6 hospital biobanks. Data collection time 14.3.2013-14.3.2023.

Study variables for rheumatic diseases

ICD-10 diagnosis codes included:

• M05-M09 rheumatoid arthirites and related conditions

• M30 polyarteritis nodosa and related diseases

• M31.3 granulomatous polyangiitis

• M31.5 temporal arteritis

• M32 SLE

• M33 dermatopolymyositis

• M34 systemic sclerosis

• M35.0 Sjögren

• M45 ankylosing spondylitis

• M46.1 sacroilitis

• M79.7 fibromyalgia

Laboratory measurements:

• S/P-RF

• S/P-CCPAb

• Ly-HLAB27

• P-C3, P-C4

• S-MPOAbG

• S-Pr3Ab

• ANA-ab

• ENA-ab

• s-DNAnAb

• ANA-ty

• S-ANCA

• B-PVK+T and B-TVK (=WBC)

• B-La

• S/P-CRP; S-hCRP

Hospital-administrated drugs:

• infliximab

• belimumab

• rituximab

• abatacept

• tocilizumab

Study variables for inflammatory bowel diseases (IBD)

ICD-10 diagnosis codes included:

• K50

• K51

• K52

Laboratory measurements:

• S/P-ASAT, ALAT, AFOS and GT

• S/P-Alb

• F-Calpro

• S-Krea; P-Krea (estimated GFR, CKD-Epi)

• S/P-Amyl

• S/P-ANCA

• B-PVK+T and B-TVK (=WBC)

• B-La

• S/P-CRP; S-hCRP

• Bil

• TT%

Hospital-administrated drugs:

• infliximab

• ustekinumab

• vedolizumab

Summary of the data (Oct 2023):