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Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy
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The aim of this study was to determine, through a genome-wide association study (GWAS), the genetic components contributing to different clinical sub-phenotypes of systemic sclerosis (SSc). We considered limited (lcSSc) and diffuse (dcSSc) cutaneous involvement, and the relationships with presence of the SSc-specific auto-antibodies, anti-centromere (ACA), and anti-topoisomerase I (ATA). Four GWAS cohorts, comprising 2,296 SSc patients and 5,171 healthy controls, were meta-analyzed looking for associations in the selected subgroups. Eighteen polymorphisms were further tested in nine independent cohorts comprising an additional 3,175 SSc patients and 4,971 controls. Conditional analysis for associated SNPs in the HLA region was performed to explore their independent association in antibody subgroups. Overall analysis showed that non-HLA polymorphism rs11642873 in IRF8 gene to be associated at GWAS level with lcSSc (P = 2.32×10(-12), OR = 0.75). Also, rs12540874 in GRB10 gene (P = 1.27 × 10(-6), OR = 1.15) and rs11047102 in SOX5 gene (P = 1.39×10(-7), OR = 1.36) showed a suggestive association with lcSSc and ACA subgroups respectively. In the HLA region, we observed highly associated allelic combinations in the HLA-DQB1 locus with ACA (P = 1.79×10(-61), OR = 2.48), in the HLA-DPA1/B1 loci with ATA (P = 4.57×10(-76), OR = 8.84), and in NOTCH4 with ACA P = 8.84×10(-21), OR = 0.55) and ATA (P = 1.14×10(-8), OR = 0.54). We have identified three new non-HLA genes (IRF8, GRB10, and SOX5) associated with SSc clinical and auto-antibody subgroups. Within the HLA region, HLA-DQB1, HLA-DPA1/B1, and NOTCH4 associations with SSc are likely confined to specific auto-antibodies. These data emphasize the differential genetic components of subphenotypes of SSc.
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GRB10 has been associated with a subtype of systemic sclerosis (lcSSc).
“GRB10 has been associated with a subtype of systemic sclerosis (lcSSc); patients with systemic sclerosis have higher expression of GRB10 in monocytes67,68.”
From Quantifying the contribution of Neanderthal introgression to the heritability of complex traits (2021) · cites this paper as [67]
Patients with systemic sclerosis have higher expression of GRB10 in monocytes.
“GRB10 has been associated with a subtype of systemic sclerosis (lcSSc); patients with systemic sclerosis have higher expression of GRB10 in monocytes67,68.”
From Quantifying the contribution of Neanderthal introgression to the heritability of complex traits (2021) · cites this paper as [67]
The Discussion reports an association between GRB10 and the lcSSc subtype, and the Results report an associated genetic variant. Neither passage addresses GRB10 expression in monocytes or compares expression in patients and controls (searched: monocytes, GRB10 expression). (LLM, conf=0.76)
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- FC Arnett, 2009, Major Histocompatibility Complex (MHC) class II alleles, haplotypes, and epitopes which confer susceptibility or protection in the fibrosing autoimmune disease systemic sclerosis: analyses in 1300 Caucasian, African-American and Hispanic cases and 1000 controls., Ann Rheum Dis, 69, 822, 10.1136/ard.2009.111906 · DOI
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Self-citation
Metadata
- Authors
- Gorlova, O., Martin, J.-E., Rueda, B., Koeleman, B. P. C., Ying, J., Teruel, M., Diaz-Gallo, L.-M., Broen, J. C., Vonk, M. C., Simeon, C. P., Alizadeh, B. Z., Coenen, M. J. H., Voskuyl, A. E., Schuerwegh, A. J., van Riel, P. L. C. M., Vanthuyne, M., van 't Slot, R., Italiaander, A., Ophoff, R. A., Hunzelmann, N., Fonollosa, V., Ortego-Centeno, N., González-Gay, M. A., García-Hernández, F. J., González-Escribano, M. F., Airo, P., van Laar, J., Worthington, J., Hesselstrand, R., Smith, V., de Keyser, F., Houssiau, F., Chee, M. M., Madhok, R., Shiels, P. G., Westhovens, R., Kreuter, A., de Baere, E., Witte, T., Padyukov, L., Nordin, A., Scorza, R., Lunardi, C., Lie, B. A., Hoffmann-Vold, A.-M., Palm, Ø., García de la Peña, P., Carreira, P., Spanish Scleroderma Group, Varga, J., Hinchcliff, M., Lee, A. T., Gourh, P., Amos, C. I., Wigley, F. M., Hummers, L. K., Hummers, J., Nelson, J. L., Riemekasten, G., Herrick, A., Beretta, L., Fonseca, C., Denton, C. P., Gregersen, P. K., Agarwal, S., Assassi, S., Tan, F. K., Arnett, F. C., Radstake, T. R. D. J., Mayes, M. D., & Martin, J.
- Affiliations
- The University of Texas MD Anderson Cancer Center (US)
- University Medical Center Utrecht (NL)
- Radboud University Nijmegen (NL)
- University Medical Center Groningen (NL)
- Amsterdam UMC Location Vrije Universiteit Amsterdam (NL)
- Leiden University (NL)
- Cliniques Universitaires Saint-Luc (BE)
- University of Cologne (DE)
- Newcastle University (GB)
- Manchester Academic Health Science Centre (GB)
- Lund University (SE)
- Ghent University (BE)
- Glasgow Royal Infirmary (GB)
- Western Infirmary (GB)
- St. Josef-Hospital (DE)
- Medizinische Hochschule Hannover (DE)
- Karolinska Institutet (SE)
- University of Milan (IT)
- University of Verona (IT)
- Oslo University Hospital (NO)
- Hospital Universitario 12 De Octubre (ES)
- Northwestern University (US)
- Feinstein Institute for Medical Research (US)
- Johns Hopkins University (US)
- Fred Hutch Cancer Center (US)
- The Royal Free Hospital (GB)
- The University of Texas Health Science Center at Houston (US)
- Consejo Superior de Investigaciones Científicas (ES)
- Corresponding author
- Gorlova, Olga
- Martin, Javier
- ORCID
- Gorlova, Olga
- Koeleman, Bobby P. C.
- Broen, Jasper C.
- Alizadeh, Behrooz Z.
- Coenen, Marieke J. H.
- Voskuyl, Alexandre E.
- van Riel, Piet L. C. M.
- Ophoff, Roel A.
- van Laar, Jacob
- Worthington, Jane
- Hesselstrand, Roger
- Smith, Vanessa
- Shiels, Paul G.
- Kreuter, Alexander
- Witte, Torsten
- Padyukov, Leonid
- Lunardi, Claudio
- Lie, Benedicte A.
- Palm, Øyvind
- Carreira, Patricia
- Varga, John
- Hinchcliff, Monique
- Gourh, Pravitt
- Hummers, Laura K.
- Herrick, Ariane
- Beretta, Lorenzo
- Fonseca, Carmen
- Denton, Christopher P.
- Gregersen, Peter K.
- Agarwal, Sandeep
- Assassi, Shervin
- Radstake, Timothy R. D. J.
- Mayes, Maureen D.
- Venue
- PLoS Genetics
- Publisher
- Public Library of Science (PLoS)
- Published
- 2011-07-14
- Volume
- 7
- Issue
- 7
- Pages
- e1002178
- ISSN
- 1553-7390 (ISSN-L)
- 1553-7404
- PMC
- PMC3136437
- OpenAlex
- W2118448966
- Cited by
- 231
- References
- 51
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 9 · 2023: 12 · 2022: 10 · 2021: 16 · 2020: 16 · 2019: 16 · 2018: 16 · 2017: 17 · 2016: 21 · 2015: 26 · 2014: 24 · 2013: 18 · 2012: 18
- FWCI
- 14.85
- Type
- journal article
- Language
- en
- Update notices
- Open access
- gold
- doi.org
- Locations
- PLoS Genetics (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion, other-oa)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (publishedVersion, cc-by)
- ENLIGHTEN (Jurnal Bimbingan dan Konseling Islam) (acceptedVersion)
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- Newcastle University ePrints (Newcastle Univesity) (cc-by)
- Funders
- U.S. Department of Defense (W81XWH)
- Deutsche Forschungsgemeinschaft
- ZonMw
- Diabetes Fonds (2008.40.001)
- Nederlandse Organisatie voor Wetenschappelijk Onderzoek (11110)
- ReumaNederland
- European League Against Rheumatism
- Exzellenzclusters Entzündungsforschung
- Versus Arthritis (/17552)
- Sociedad Española de Reumatología
- Dutch Arthritis Association
- National Institutes of Health (5p50ar054144-05, W81XWH, n01ar002251-000)
- Instituto de Salud Carlos III
- National Institute of Mental Health (R01MH078075)
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (AR055258, 1-P50-AR-054144, P50-AR-054144, R01AR055258, N01 AR002251, N01 AR 02251)
- Congressionally Directed Medical Research Programs (W81XWH‐07‐01‐0111)
- Topics
- Health Sciences › Medicine › Rheumatology › Systemic Sclerosis and Related Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Keywords
- systemic sclerosis, genetic susceptibility, limited cutaneous systemic sclerosis, diffuse cutaneous systemic sclerosis, anti-centromere antibodies, anti-Scl-70 antibodies, IRF8, Grb10, SOX5, HLA-DQB1, HLA-DPA1, HLA-DPB1, Notch4, genetic markers, autoantibodies, clinical phenotype
- MeSH terms
- Alleles, Autoantibodies, Female, Genetic Markers, HLA Antigens, Humans, Male, Middle Aged, Phenotype, Scleroderma, Systemic, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Genome-Wide Association Study, Genetic Loci
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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