Cited by 231Systemic Sclerosis and Related DiseasesGenetic Associations and EpidemiologyConnective tissue disorders research

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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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Gorlova, Olga, Martin, Jose-Ezequiel, Rueda, Blanca, Koeleman, Bobby P. C., Ying, Jun, Teruel, Maria, Diaz-Gallo, Lina-Marcela, Broen, Jasper C., Vonk, Madelon C., Simeon, Carmen P., Alizadeh, Behrooz Z., Coenen, Marieke J. H., Voskuyl, Alexandre E., Schuerwegh, Annemie J., van Riel, Piet L. C. M., Vanthuyne, Marie, van 't Slot, Ruben, Italiaander, Annet, Ophoff, Roel A., Hunzelmann, Nicolas, Fonollosa, Vicente, Ortego-Centeno, Norberto, González-Gay, Miguel A., García-Hernández, Francisco J., González-Escribano, María F., Airo, Paolo, van Laar, Jacob, Worthington, Jane, Hesselstrand, Roger, Smith, Vanessa, de Keyser, Filip, Houssiau, Fredric, Chee, Meng May, Madhok, Rajan, Shiels, Paul G., Westhovens, Rene, Kreuter, Alexander, de Baere, Elfride, Witte, Torsten, Padyukov, Leonid, Nordin, Annika, Scorza, Raffaella, Lunardi, Claudio, Lie, Benedicte A., Hoffmann-Vold, Anna-Maria, Palm, Øyvind, García de la Peña, Paloma, Carreira, Patricia, Spanish Scleroderma Group, Varga, John, Hinchcliff, Monique, Lee, Annette T., Gourh, Pravitt, Amos, Christopher I., Wigley, Frederick M., Hummers, Laura K., Hummers, J., Nelson, J. Lee, Riemekasten, Gabriella, Herrick, Ariane, Beretta, Lorenzo, Fonseca, Carmen, Denton, Christopher P., Gregersen, Peter K., Agarwal, Sandeep, Assassi, Shervin, Tan, Filemon K., Arnett, Frank C., Radstake, Timothy R. D. J., Mayes, Maureen D., Martin, Javier·2011·PLoS Genetics

DOI 10.1371/journal.pgen.1002178PMC PMC3136437

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Abstract

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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Figure 1 New loci associated with subphenotypes of SSc. The lower part shows the Manhattan Plot with corrected P values of the GWAS cohorts. The upper part shows the ORs and the 95% CI interval of the novel associated regions in the GWAS cohorts (HLA region, left panel) and all cohorts (non-HLA loci, right panel) for the overall analysis and each subphenotype considered in the study. (Note: the ORs and CIs on the forest plot do not exactly correspond to the numbers in Table 1 and Table 2. Table 1 and Table 2 shows marginal effects of these SNPs while this figure presents ORs and CIs after the adjustment for the other SNPs claimed as independent for that phenotype).CC BY · PubMed Central

Figure 2 Manhattan plot showing the -log10 of the Mantel-Haenszel P value of all 1,112 SNPs in HLA region for the GWAS cohorts comprising 2,296 cases and 5,171 controls. Associations for the whole SSc set are in black, while associations in ACA (760 cases) and ATA (447 cases) positive subgroups are in orange and red, respectively. Loci which were independently associated according to conditional logistic regression analysis are highlighted in grey.CC BY · PubMed Central

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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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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
DOI: 10.1371/journal.pgen.1002178
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: correction (2011-08-25)
correction (2011-08-25)
Open access: gold
doi.org
Licence: cc-by
creativecommons.org/licenses/by/4.0/ (unspecified)
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)
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Pure Amsterdam UMC (submittedVersion, other-oa)
Research Explorer (The University of Manchester) (submittedVersion)
UCrea (University of Cantabria) (submittedVersion, cc-by)
Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
Data Archiving and Networked Services (DANS) (submittedVersion)
RePEc: Research Papers in Economics (submittedVersion)
Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano) (submittedVersion, other-oa)
Leiden Repository (Leiden University) (submittedVersion)
Digital Academic REpository of VU University Amsterdam (Vrije Universiteit Amsterdam) (submittedVersion)
Digital Access to Libraries (Université catholique de Louvain (UCL), l'Université de Namur (UNamur) and the Université Saint-Louis (USL-B)) (submittedVersion, other-oa)
Dipòsit Digital de la Universitat de Barcelona (Universitat de Barcelona) (submittedVersion, cc-by)
DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
UCL Discovery (University College London) (submittedVersion)
eScholarship (California Digital Library) (submittedVersion)
eScholarship (California Digital Library) (submittedVersion, cc-by)
Figshare (submittedVersion, cc-by)
Lund University Publications (Lund University) (submittedVersion, other-oa)
Radboud Repository (Radboud University) (submittedVersion)
Radboud Repository (Radboud University) (submittedVersion, other-oa)
University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion, cc-by)
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

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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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