Evidence map›Paper›PMID 37461547›Full record

ArticlemedRxiv : the preprint server for health sciences2024

Increased frequency of repeat expansion mutations across different populations.

Kristina Ibañez, Bharati Jadhav, Matteo Zanovello, Delia Gagliardi, Christopher Clarkson, Stefano Facchini, Paras Garg, Alejandro Martin-Trujillo, Scott J Gies, Valentina Galassi Deforie and 21 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 13 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

31 authors at 9 institutions in 2 countries.

Kristina IbañezWilliam Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, UK.
Bharati JadhavDepartment of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Matteo ZanovelloDepartment of Neuromuscular Diseases, Institute of Neurology, UCL, London, UK.
Delia GagliardiWilliam Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, UK.
Christopher ClarksonWilliam Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, UK.
Stefano FacchiniDepartment of Neuromuscular Diseases, Institute of Neurology, UCL, London, UK.
Paras GargDepartment of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Alejandro Martin-TrujilloDepartment of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Scott J GiesDepartment of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Valentina Galassi DeforieDepartment of Neuromuscular Diseases, Institute of Neurology, UCL, London, UK.
Anupriya DalmiaUK Dementia Research Institute, UCL, London, UK.
Davina J Hensman MossSt George's, University of London, London, SW17 0RE, UK.
Jana VandrovcovaDepartment of Neuromuscular Diseases, Institute of Neurology, UCL, London, UK.
Clarissa RoccaDepartment of Neuromuscular Diseases, Institute of Neurology, UCL, London, UK.
Loukas MoutsianasGenomics England, London, UK.
Chiara Marini-BettoloThe John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Helen WalkerThe John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Chris TurnerMRC Centre for Neuromuscular Disease, National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG.
Maryam ShoaiDepartment of Neurodegenerative Disorders, Queen Square Institute of Neurology, UCL, London, UK.ORCID 0000-0003-2499-8533
Jeffrey D LongDepartments of Psychiatry and Biostatistics, The University of Iowa, Iowa City, IA 52242, USA.
EUROSCA network
Pietro FrattaDepartment of Neuromuscular Diseases, Institute of Neurology, UCL, London, UK.ORCID 0000-0002-7554-1632
Douglas R LangbehnDepartments of Psychiatry and Biostatistics, The University of Iowa, Iowa City, IA 52242, USA.
Sarah J TabriziUK Dementia Research Institute, UCL, London, UK.
Mark J CaulfieldWilliam Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, UK.
Andrea CorteseDepartment of Neuromuscular Diseases, Institute of Neurology, UCL, London, UK.
Valentina Escott-PriceDepartment of Psychological Medicine and Clinical Neuroscience, School of Medicine, Cardiff University, UK.ORCID 0000-0003-1784-5483
John HardyDepartment of Neurodegenerative Disorders, Queen Square Institute of Neurology, UCL, London, UK.
Henry HouldenDepartment of Neurodegenerative Disorders, Queen Square Institute of Neurology, UCL, London, UK.ORCID 0000-0002-2866-7777
Andrew J SharpDepartment of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Arianna TucciWilliam Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, UK.
Queen Mary University of London · GBUniversity College London · GBChild Health and Development Institute · USInstitute for Neurodegenerative Disorders · USUK Dementia Research Institute · GBNewcastle upon Tyne Hospitals NHS Foundation Trust · GBUniversity of Iowa · USNational Hospital for Neurology and Neurosurgery · GBSt George's, University of London · GB

Funding

Critical Path to Public Private PartnershipsU18FD005320 · FDA · CRITICAL PATH INSTITUTE · PI Klaus Romero · 2014 to 2026
$127.1M
UCLA Clinical Translational Science InstituteUL1TR001881 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ARLEEN F. BROWN, ARASH NAEIM · 2016 to 2026
$118.1M
Supplement Proposal: Accelerated Genome Aggregation and Joint Variant Calling EffortUM1HG008853 · NHGRI · WASHINGTON UNIVERSITY · PI HALL, IRA M, MILBRANDT, JEFFREY D · 2016 to 2020
$76.2M
Institute for Clinical and Translational ResearchUL1TR001079 · NCATS · JOHNS HOPKINS UNIVERSITY · PI FORD, DANIEL ERNEST · 2013 to 2017
$60.1M
Genetic Epidemiology of COPDU01HL089897 · NHLBI · NATIONAL JEWISH HEALTH · PI CRAPO, JAMES D · 2007 to 2021
$56.9M
Transgenic & Knock-out MouseP30DK063491 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Andrea L Hevener · 2003 to 2026
$40.4M
Wake Forest Clinical and Translational Science AwardUL1TR001420 · NCATS · WAKE FOREST UNIVERSITY HEALTH SCIENCES · PI ARD, JAMY D, FOLEY, KRISTIE L · 2015 to 2023
$32.3M
FRAMINGHAM HEART STUDY - YEAR 5 EXAM75N92019D00031 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI RAMACHANDRAN, VASAN · 2019 to 2024
$29.8M
Clinical and Translational Science AwardUL1TR000040 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GINSBERG, HENRY N · 2012 to 2015
$26.2M
Genetic Epidemiology of COPDU01HL089856 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI SILVERMAN, EDWIN K · 2007 to 2021
$20.7M
Studies of Rare Genetic Variation in the Isolated Population of SardiniaR01HL117626 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2013 to 2016
$10.5M
Exceptional Survival: Trajectories to Functional Aging (CHS All Stars)R01AG023629 · NIA · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI NEWMAN, ANNE B. · 2004 to 2016
$9.5M
FDA HHS U18 FD005320Medical Research Council MC_EX_MR/M009203/1Medical Research Council MC_PC_14089Medical Research Council MR/M009203/1Medical Research Council MR/S006753/1NCATS NIH HHS UL1 TR001079NCATS NIH HHS UL1 TR001420NCATS NIH HHS UL1 TR001881NHGRI NIH HHS UM1 HG008853NHLBI NIH HHS 75N92019D00031NHLBI NIH HHS HHSN268201800015INHLBI NIH HHS N01 HC025195NHLBI NIH HHS N01 HC055222NHLBI NIH HHS N01 HC085079NHLBI NIH HHS N01 HC085080NHLBI NIH HHS N01 HC085081NHLBI NIH HHS N01 HC085082NHLBI NIH HHS N01 HC085083NHLBI NIH HHS N01 HC085086NHLBI NIH HHS N01 HC095159NHLBI NIH HHS N01 HC095160NHLBI NIH HHS N01 HC095161NHLBI NIH HHS N01 HC095162NHLBI NIH HHS N01 HC095163NHLBI NIH HHS N01 HC095164NHLBI NIH HHS N01 HC095165NHLBI NIH HHS N01 HC095166NHLBI NIH HHS N01 HC095167NHLBI NIH HHS N01 HC095168NHLBI NIH HHS N01 HC095169NHLBI NIH HHS R01 HL117626NHLBI NIH HHS R01 HL120393NHLBI NIH HHS U01 HL080295NHLBI NIH HHS U01 HL089856NHLBI NIH HHS U01 HL089897NHLBI NIH HHS U01 HL120393NHLBI NIH HHS U01 HL130114NIA NIH HHS R01 AG023629NIA NIH HHS R01 AG075051NIA NIH HHS RF1 AG075051NICHD NIH HHS R03 HD103782NIDDK NIH HHS P30 DK063491NINDS NIH HHS R01 NS105781NINDS NIH HHS U01 NS120241Wellcome Trust
6 · The paper itself

Abstract

Repeat expansion disorders (REDs) are a devastating group of predominantly neurological diseases. Together they are common, affecting 1 in 3,000 people worldwide with population-specific differences. However, prevalence estimates of REDs are hampered by heterogeneous clinical presentation, variable geographic distributions, and technological limitations leading to under-ascertainment. Here, leveraging whole genome sequencing data from 82,176 individuals from different populations, we found an overall disease allele frequency of REDs of 1 in 283 individuals. Modelling disease prevalence using genetic data, age at onset and survival, we show that the expected number of people with REDs would be two to three times higher than currently reported figures, indicating under-diagnosis and/or incomplete penetrance. While some REDs are population-specific, e.g. Huntington disease-like 2 in Africans, most REDs are represented in all broad genetic ancestries (i.e. Europeans, Africans, Americans, East Asians, and South Asians), challenging the notion that some REDs are found only in specific populations. These results have worldwide implications for local and global health communities in the diagnosis and counselling of REDs.

Identifiers

PMID37461547
PMCPMC10350132
OpenAlexW4383314267

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.