Evidence map›Paper›PMID 35352506›Full record

ArticleACR open rheumatology2022

47XXY and 47XXX in Scleroderma and Myositis.

R Hal Scofield, Valerie M Lewis, Joshua Cavitt, Biji T Kurien, Shervin Assassi, Javier Martin, Olga Gorlova, Peter Gregersen, Annette Lee, Lisa G Rider and 18 more

Open access · goldAbstract read
In one paragraph

Article in ACR open rheumatology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed, 1 pooled it
3.7field-weighted citation impact, top 6% of its field
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

18 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.

  1. The extra X chromosome and autoimmune susceptibility in Klinefelter syndrome.The Journal of clinical endocrinology and metabolism · 2026
    Pooled it
  2. Sex-dependent mechanisms in rheumatic diseases.Nature reviews. Rheumatology · 2026
    Review
  3. Review
  4. Review
  5. Review
  6. Review
  7. Review
  8. Article
  9. Is X chromosome inactivation a cause or effect of SLE?Nature reviews. Rheumatology · 2024
    Article
  10. Review
  11. The conneXion between sex and immune responses.Nature reviews. Immunology · 2024
    Review
  12. Article
  13. Article
  14. Review
  15. Review
  16. Review
  17. The X in seX-biased immunity and autoimmune rheumatic disease.The Journal of experimental medicine · 2022
    Review
  18. The Genetics of Autoimmune Myositis.Frontiers in immunology · 2022
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

28 authors at 17 institutions in 5 countries.

R Hal ScofieldOklahoma Medical Research Foundation, College of Medicine, University of Oklahoma Health Sciences Center, and Oklahoma City US Department of Veterans Affairs Medical Center, Oklahoma City.ORCID https://orcid.org/0000-0003-1015-5850
Valerie M LewisOklahoma Medical Research Foundation, College of Medicine, University of Oklahoma Health Sciences Center, and Oklahoma City US Department of Veterans Affairs Medical Center, Oklahoma City.ORCID https://orcid.org/0000-0002-5496-7132
Joshua CavittOklahoma Medical Research Foundation, College of Medicine, University of Oklahoma Health Sciences Center, and Oklahoma City US Department of Veterans Affairs Medical Center, Oklahoma City.
Biji T KurienOklahoma Medical Research Foundation, College of Medicine, University of Oklahoma Health Sciences Center, and Oklahoma City US Department of Veterans Affairs Medical Center, Oklahoma City.
Shervin AssassiUniversity of Texas Health Science Center at Houston McGovern Medical School, Houston, Texas, USA.ORCID https://orcid.org/0000-0002-8059-9978
Javier MartinInstituto de Parasitología y Biomedicina López-Neyra, Consejo Superior de Investigaciones Científicas, PTS, Granada, Spain.
Olga GorlovaGeisel School of Medicine, Dartmouth College and Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire, USA.
Peter GregersenRobert S. Boas Center for Genomics and Human Genetics, Feinstein Institutes for Medical Research, Manhasset, New York, USA.
Annette LeeRobert S. Boas Center for Genomics and Human Genetics, Feinstein Institutes for Medical Research, Manhasset, New York, USA.
Lisa G RiderNational Institute of Environmental Health Science, National Institutes of Health, Bethesda, Maryland, USA.ORCID https://orcid.org/0000-0002-6912-2458
Terrance O'HanlonNational Institute of Environmental Health Science, National Institutes of Health, Bethesda, Maryland, USA.
Simon RothwellThe University of Manchester, Manchester, UK.
James LillekerSchool of Biological Sciences, The University of Manchester, Manchester, UK, and Salford Royal National Health Service Foundation Trust, Salford, UK.
Myositis Genetics Consortium, Xiaoxi LiuRIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Yuta KochiTokyo, Japan, and RIKEN Center for Integrative Medical Sciences, Tokyo Medical and Dental University, Yokohama, Japan.
Chikacshi TeraoRIKEN Center for Integrative Medical Sciences, Yokohama, Japan, and Shizuoka General Hospital and School of Pharmaceutical Sciences, University of Shizuoka, Shizuoka, Japan.
Ann IgoeOklahoma Medical Research Foundation, Oklahoma City.ORCID https://orcid.org/0000-0003-0579-7218
Wendy StevensSt. Vincent's Hospital, Melbourne, Victoria, Australia.
Joanne SahharMonash Medical Centre, Melbourne, Victoria, Australia.
Janet RoddyFiona Stanley Hospital, Murdoch, Western Australia, Australia.
Maureen RischmuellerThe Queen Elizabeth Hospital and University of Adelaide, Woodville, South Australia, Australia.
Sue LesterThe Queen Elizabeth Hospital and University of Adelaide, Woodville, South Australia, Australia.ORCID https://orcid.org/0000-0003-3013-2701
Susanna ProudmanRoyal Adelaide Hospital, Adelaide, South Australia, Australia.
Sixia ChenCollege of Public Health, University of Oklahoma Health Sciences Center, Oklahoma City.
Matthew A BrownFaculty of Life Sciences and Medicine, King's College London, London, UK.
Maureen D MayesUniversity of Texas Health Science Center at Houston McGovern Medical School, Houston, Texas, USA.ORCID https://orcid.org/0000-0001-5070-2535
Janine A LambThe University of Manchester, Manchester, UK.ORCID https://orcid.org/0000-0002-7248-0539
Frederick W MillerNational Institute of Environmental Health Science, National Institutes of Health, Bethesda, Maryland, USA.ORCID https://orcid.org/0000-0003-2831-9593
Oklahoma Medical Research Foundation · USNational Institutes of Health · USFeinstein Institute for Medical Research · USQueen Elizabeth Hospital · AUThe University of Texas Health Science Center at Houston · USUniversity of Manchester · GBConsejo Superior de Investigaciones Científicas · ESDartmouth College · USFiona Stanley Hospital · AUKing's College London · GBMonash Medical Centre · AUNational Health Service · GBRoyal Adelaide Hospital · AUSt Vincent's Hospital Melbourne · AUTokyo Medical and Dental University · JPUniversity of Oklahoma Health Sciences Center · USUniversity of Shizuoka · JP

Funding

Tracking and Evaluation CoreU54GM104938 · NIGMS · UNIVERSITY OF OKLAHOMA HLTH SCIENCES CTR · PI PAUL G SPICER · 2013 to 2026
$68.2M
Environmental/genetic Risk Factors and Pathogenesis of Autoimmune DiseaseZIAES101074 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI RIDER, LISA · 2009 to 2025
$34.6M
Oklahoma Rheumatic Disease Research Cores Center (Overall Application)P30AR073750 · NIAMS · OKLAHOMA MEDICAL RESEARCH FOUNDATION · PI JUDITH A JAMES · 2018 to 2026
$8.5M
SNP Confirmation and High Throughput Genotyping CoreP30AR053483 · NIAMS · OKLAHOMA MEDICAL RESEARCH FOUNDATION · PI GUTHRIDGE, JOEL MARVIN · 2007 to 2017
$6.7M
Foundation for the National Institutes of Health AR-053483Foundation for the National Institutes of Health AR-053734National Institute of Environmental Health Sciences Intramural Research ProgramNIAMS NIH HHS P30 AR053483NIAMS NIH HHS P30 AR073750NIGMS NIH HHS GM-104938US Department of Veterans Affairs BX001451
6 · The paper itself

Abstract

objectiveWe undertook this study to examine the X chromosome complement in participants with systemic sclerosis (SSc) as well as idiopathic inflammatory myopathies.

methodsThe participants met classification criteria for the diseases. All participants underwent single-nucleotide polymorphism typing. We examined X and Y single-nucleotide polymorphism heterogeneity to determine the number of X chromosomes. For statistical comparisons, we used χ

resultsThree of seventy men with SSc had 47,XXY (P = 0.0001 compared with control men). Among the 435 women with SSc, none had 47,XXX. Among 709 men with polymyositis or dermatomyositis (PM/DM), seven had 47,XXY (P = 0.0016), whereas among the 1783 women with PM/DM, two had 47,XXX. Of 147 men with inclusion body myositis (IBM), six had 47,XXY, and 1 of the 114 women with IBM had 47,XXX. For each of these myositis disease groups, the excess 47,XXY and/or 47,XXX was significantly higher compared with in controls as well as the known birth rate of Klinefelter syndrome or 47,XXX.

conclusionKlinefelter syndrome (47,XXY) is associated with SSc and idiopathic inflammatory myopathies, similar to other autoimmune diseases with type 1 interferon pathogenesis, namely, systemic lupus erythematosus and Sjögren syndrome.

Identifiers

PMID35352506
PMCPMC9190224
OpenAlexW4220766740

What OpenQuestion holds

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LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

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.