Defining a High-Quality Myalgic Encephalomyelitis/Chronic Fatigue Syndrome cohort in UK Biobank [version 1; peer review: 2 approved]

Background Progress in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) research is being slowed by the relatively small-scale studies being performed whose results are often not replicated. Progress could be accelerated by analyses of large population-scale projects, such as UK Biobank (...

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Main Authors: Gemma L. Samms, Chris P. Ponting
Format: Article
Language:English
Published: F1000 Research Ltd 2025-04-01
Series:NIHR Open Research
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Online Access:https://openresearch.nihr.ac.uk/articles/5-39/v1
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author Gemma L. Samms
Chris P. Ponting
author_facet Gemma L. Samms
Chris P. Ponting
author_sort Gemma L. Samms
collection DOAJ
description Background Progress in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) research is being slowed by the relatively small-scale studies being performed whose results are often not replicated. Progress could be accelerated by analyses of large population-scale projects, such as UK Biobank (UKB), which provide extensive phenotype and genotype data linked to both ME/CFS cases and controls. Methods Here, we analysed the overlap and discordance among four UKB-defined ME/CFS cohorts, and additional questionnaire data when available. Results A total of 5,354 UKB individuals were linked to at least one piece of evidence of MECFS, a higher proportion (1.1%) than most prevalence estimates. Only a third (36%; n=1,922) had 2 or more pieces of evidence for MECFS, in part due to data missingness. For the same UKB participant, ME/CFS status defined by ICD-10 (International Classification of Diseases, Tenth Revision) code G93.3 (Post-viral fatigue syndrome) was most likely to be supported by another data type (72%); ME/CFS status defined by Pain Questionnaire responses is least likely to be supported (43%), in part due to data missingness. Conclusions We conclude that ME/CFS status in UKB, and potentially other biobanks, is best supported by multiple, and not single, lines of evidence. Finally, we raise the estimated ME/CFS prevalence in the UK to 410,000 using the most consistent evidence for ME/CFS status, and accounting for those who had no opportunity to participate in UKB due to being bed- or house-bound.
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spelling doaj-art-bf90efd3c5d643b285a78d74b80f01122025-08-20T03:05:45ZengF1000 Research LtdNIHR Open Research2633-44022025-04-01510.3310/nihropenres.13956.115168Defining a High-Quality Myalgic Encephalomyelitis/Chronic Fatigue Syndrome cohort in UK Biobank [version 1; peer review: 2 approved]Gemma L. Samms0Chris P. Ponting1https://orcid.org/0000-0003-0202-7816Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, Scotland, UKInstitute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, Scotland, UKBackground Progress in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) research is being slowed by the relatively small-scale studies being performed whose results are often not replicated. Progress could be accelerated by analyses of large population-scale projects, such as UK Biobank (UKB), which provide extensive phenotype and genotype data linked to both ME/CFS cases and controls. Methods Here, we analysed the overlap and discordance among four UKB-defined ME/CFS cohorts, and additional questionnaire data when available. Results A total of 5,354 UKB individuals were linked to at least one piece of evidence of MECFS, a higher proportion (1.1%) than most prevalence estimates. Only a third (36%; n=1,922) had 2 or more pieces of evidence for MECFS, in part due to data missingness. For the same UKB participant, ME/CFS status defined by ICD-10 (International Classification of Diseases, Tenth Revision) code G93.3 (Post-viral fatigue syndrome) was most likely to be supported by another data type (72%); ME/CFS status defined by Pain Questionnaire responses is least likely to be supported (43%), in part due to data missingness. Conclusions We conclude that ME/CFS status in UKB, and potentially other biobanks, is best supported by multiple, and not single, lines of evidence. Finally, we raise the estimated ME/CFS prevalence in the UK to 410,000 using the most consistent evidence for ME/CFS status, and accounting for those who had no opportunity to participate in UKB due to being bed- or house-bound.https://openresearch.nihr.ac.uk/articles/5-39/v1Myalgic Encephalomyelitis/Chronic Fatigue Syndrome prevalence; Population bioresource; Electronic health records; Post-viral fatigue syndromeeng
spellingShingle Gemma L. Samms
Chris P. Ponting
Defining a High-Quality Myalgic Encephalomyelitis/Chronic Fatigue Syndrome cohort in UK Biobank [version 1; peer review: 2 approved]
NIHR Open Research
Myalgic Encephalomyelitis/Chronic Fatigue Syndrome prevalence; Population bioresource; Electronic health records; Post-viral fatigue syndrome
eng
title Defining a High-Quality Myalgic Encephalomyelitis/Chronic Fatigue Syndrome cohort in UK Biobank [version 1; peer review: 2 approved]
title_full Defining a High-Quality Myalgic Encephalomyelitis/Chronic Fatigue Syndrome cohort in UK Biobank [version 1; peer review: 2 approved]
title_fullStr Defining a High-Quality Myalgic Encephalomyelitis/Chronic Fatigue Syndrome cohort in UK Biobank [version 1; peer review: 2 approved]
title_full_unstemmed Defining a High-Quality Myalgic Encephalomyelitis/Chronic Fatigue Syndrome cohort in UK Biobank [version 1; peer review: 2 approved]
title_short Defining a High-Quality Myalgic Encephalomyelitis/Chronic Fatigue Syndrome cohort in UK Biobank [version 1; peer review: 2 approved]
title_sort defining a high quality myalgic encephalomyelitis chronic fatigue syndrome cohort in uk biobank version 1 peer review 2 approved
topic Myalgic Encephalomyelitis/Chronic Fatigue Syndrome prevalence; Population bioresource; Electronic health records; Post-viral fatigue syndrome
eng
url https://openresearch.nihr.ac.uk/articles/5-39/v1
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