Cohort profile: SCREEN-RA: design, methods and perspectives of a Swiss cohort study of first-degree relatives of patients with rheumatoid arthritis

Purpose Rheumatoid arthritis (RA) is an insidious autoimmune disease, with an immunological onset years before diagnosis. Early interventions in preclinical stages could prevent or minimise the progression towards irreversible joint damage. The SCREEN-RA cohort (Evaluation of a SCREENing strategy fo...

Full description

Saved in:
Bibliographic Details
Main Authors: Axel Finckh, Kim Lauper, Denis Mongin, Delphine S Courvoisier, Celine Lamacchia, Diego Kyburz, Andrea Rubbert-Roth, Benoît Thomas P Gilbert, Eric Trunk, Olivia Studer, Burkhard Moeller
Format: Article
Language:English
Published: BMJ Publishing Group 2021-07-01
Series:BMJ Open
Online Access:https://bmjopen.bmj.com/content/11/7/e048409.full
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1850285244500934656
author Axel Finckh
Kim Lauper
Denis Mongin
Delphine S Courvoisier
Celine Lamacchia
Diego Kyburz
Andrea Rubbert-Roth
Benoît Thomas P Gilbert
Eric Trunk
Olivia Studer
Burkhard Moeller
author_facet Axel Finckh
Kim Lauper
Denis Mongin
Delphine S Courvoisier
Celine Lamacchia
Diego Kyburz
Andrea Rubbert-Roth
Benoît Thomas P Gilbert
Eric Trunk
Olivia Studer
Burkhard Moeller
author_sort Axel Finckh
collection DOAJ
description Purpose Rheumatoid arthritis (RA) is an insidious autoimmune disease, with an immunological onset years before diagnosis. Early interventions in preclinical stages could prevent or minimise the progression towards irreversible joint damage. The SCREEN-RA cohort (Evaluation of a SCREENing strategy for Rheumatoid Arthritis) aims to characterise the preclinical stages of the disease, to identify environmental risk factors, and to discover or validate novel biomarkers predictive for RA development.Participants SCREEN-RA includes an at-risk population for RA, namely first-degree relatives of patients with established RA.Findings to date The cohort started in 2009 is composed of mostly asymptomatic healthy individuals (total n=1458, 7262 person-years), with a mean age of 44 years at enrolment, 74% female and 91% Caucasian ethnicity. During the study period, 16 participants have developed RA. All participants provide baseline serum, DNA and RNA samples, and in a subset, stool samples and oral examination are performed for microbiota assessment. At enrolment, 10% of participants had asymptomatic autoimmunity associated with RA (n=147), 10% presented ‘clinically suspect arthralgias’ (n=143) and 3% reported arthralgias in conjunction with autoimmunity or high genetic risk (n=51). Studies with this cohort have uncovered risk factors for RA development, such as female hormonal factors, poor oral health or intestinal dysbiosis.Future plans Future directions include immunological and ‘multiomics’ approaches to discover new biological markers of progression towards RA, as well as testing preventive interventions in ‘high-risk’ population.
format Article
id doaj-art-89a5518401bd4e108fe623aae311986c
institution OA Journals
issn 2044-6055
language English
publishDate 2021-07-01
publisher BMJ Publishing Group
record_format Article
series BMJ Open
spelling doaj-art-89a5518401bd4e108fe623aae311986c2025-08-20T01:47:21ZengBMJ Publishing GroupBMJ Open2044-60552021-07-0111710.1136/bmjopen-2020-048409Cohort profile: SCREEN-RA: design, methods and perspectives of a Swiss cohort study of first-degree relatives of patients with rheumatoid arthritisAxel Finckh0Kim Lauper1Denis Mongin2Delphine S Courvoisier3Celine Lamacchia4Diego Kyburz5Andrea Rubbert-Roth6Benoît Thomas P Gilbert7Eric Trunk8Olivia Studer9Burkhard Moeller1010 Department of Rheumatology, Geneva University Hospitals, Geneve, SwitzerlandCentre for Epidemiology Versus Arthritis, Centre for Musculoskeletal Research, University of Manchester, Manchester, EnglandDivision of Rheumatology, Geneva University Hospitals, Geneva, SwitzerlandDivision of Rheumatology, Department of Internal Medicine, Geneva University Hospitals, Geneva, SwitzerlandDivision of Rheumatology, Geneva University Hospitals (HUG), Geneve, Switzerland7University Hospital, Basel, SwitzerlandDivision of Rheumatology, Cantonal Clinic St. Gallen, St. Gallen, SwitzerlandDivision of Rheumatology, Department of Internal Medicine, Geneva University Hospitals, Geneva, SwitzerlandDivision of Rheumatology, Geneva University Hospitals (HUG), Geneve, SwitzerlandUniversity Hospitals of Geneva, Geneva, SwitzerlandUniversity Hospital of Bern, Bern, SwitzerlandPurpose Rheumatoid arthritis (RA) is an insidious autoimmune disease, with an immunological onset years before diagnosis. Early interventions in preclinical stages could prevent or minimise the progression towards irreversible joint damage. The SCREEN-RA cohort (Evaluation of a SCREENing strategy for Rheumatoid Arthritis) aims to characterise the preclinical stages of the disease, to identify environmental risk factors, and to discover or validate novel biomarkers predictive for RA development.Participants SCREEN-RA includes an at-risk population for RA, namely first-degree relatives of patients with established RA.Findings to date The cohort started in 2009 is composed of mostly asymptomatic healthy individuals (total n=1458, 7262 person-years), with a mean age of 44 years at enrolment, 74% female and 91% Caucasian ethnicity. During the study period, 16 participants have developed RA. All participants provide baseline serum, DNA and RNA samples, and in a subset, stool samples and oral examination are performed for microbiota assessment. At enrolment, 10% of participants had asymptomatic autoimmunity associated with RA (n=147), 10% presented ‘clinically suspect arthralgias’ (n=143) and 3% reported arthralgias in conjunction with autoimmunity or high genetic risk (n=51). Studies with this cohort have uncovered risk factors for RA development, such as female hormonal factors, poor oral health or intestinal dysbiosis.Future plans Future directions include immunological and ‘multiomics’ approaches to discover new biological markers of progression towards RA, as well as testing preventive interventions in ‘high-risk’ population.https://bmjopen.bmj.com/content/11/7/e048409.full
spellingShingle Axel Finckh
Kim Lauper
Denis Mongin
Delphine S Courvoisier
Celine Lamacchia
Diego Kyburz
Andrea Rubbert-Roth
Benoît Thomas P Gilbert
Eric Trunk
Olivia Studer
Burkhard Moeller
Cohort profile: SCREEN-RA: design, methods and perspectives of a Swiss cohort study of first-degree relatives of patients with rheumatoid arthritis
BMJ Open
title Cohort profile: SCREEN-RA: design, methods and perspectives of a Swiss cohort study of first-degree relatives of patients with rheumatoid arthritis
title_full Cohort profile: SCREEN-RA: design, methods and perspectives of a Swiss cohort study of first-degree relatives of patients with rheumatoid arthritis
title_fullStr Cohort profile: SCREEN-RA: design, methods and perspectives of a Swiss cohort study of first-degree relatives of patients with rheumatoid arthritis
title_full_unstemmed Cohort profile: SCREEN-RA: design, methods and perspectives of a Swiss cohort study of first-degree relatives of patients with rheumatoid arthritis
title_short Cohort profile: SCREEN-RA: design, methods and perspectives of a Swiss cohort study of first-degree relatives of patients with rheumatoid arthritis
title_sort cohort profile screen ra design methods and perspectives of a swiss cohort study of first degree relatives of patients with rheumatoid arthritis
url https://bmjopen.bmj.com/content/11/7/e048409.full
work_keys_str_mv AT axelfinckh cohortprofilescreenradesignmethodsandperspectivesofaswisscohortstudyoffirstdegreerelativesofpatientswithrheumatoidarthritis
AT kimlauper cohortprofilescreenradesignmethodsandperspectivesofaswisscohortstudyoffirstdegreerelativesofpatientswithrheumatoidarthritis
AT denismongin cohortprofilescreenradesignmethodsandperspectivesofaswisscohortstudyoffirstdegreerelativesofpatientswithrheumatoidarthritis
AT delphinescourvoisier cohortprofilescreenradesignmethodsandperspectivesofaswisscohortstudyoffirstdegreerelativesofpatientswithrheumatoidarthritis
AT celinelamacchia cohortprofilescreenradesignmethodsandperspectivesofaswisscohortstudyoffirstdegreerelativesofpatientswithrheumatoidarthritis
AT diegokyburz cohortprofilescreenradesignmethodsandperspectivesofaswisscohortstudyoffirstdegreerelativesofpatientswithrheumatoidarthritis
AT andrearubbertroth cohortprofilescreenradesignmethodsandperspectivesofaswisscohortstudyoffirstdegreerelativesofpatientswithrheumatoidarthritis
AT benoitthomaspgilbert cohortprofilescreenradesignmethodsandperspectivesofaswisscohortstudyoffirstdegreerelativesofpatientswithrheumatoidarthritis
AT erictrunk cohortprofilescreenradesignmethodsandperspectivesofaswisscohortstudyoffirstdegreerelativesofpatientswithrheumatoidarthritis
AT oliviastuder cohortprofilescreenradesignmethodsandperspectivesofaswisscohortstudyoffirstdegreerelativesofpatientswithrheumatoidarthritis
AT burkhardmoeller cohortprofilescreenradesignmethodsandperspectivesofaswisscohortstudyoffirstdegreerelativesofpatientswithrheumatoidarthritis