8 results on '"Radstake, Timothy R.D.J."'
Search Results
2. A cross-disease meta-GWAS identifies four new susceptibility loci shared between systemic sclerosis and Crohn's disease
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González-Serna, David, Ochoa, Eguzkine, López-Isac, Elena, Julià, Antonio, Degenhardt, Frauke, Ortego-Centeno, Norberto, Radstake, Timothy R.D.J., Franke, Andre, Marsal, Sara, Mayes, Maureen D., Martín, Javier, Márquez, Ana, Assassi, Shervin, Zhou, Xiaodong, Tan, Filemon K., Arnett, Frank C., Reveille, John D., Gorlova, Olga, Chen, Wei V., Ying, Jun, Gregersen, Peter K., Lee, Annette T., Voskuyl, Alexandre E., de Vries-Bouwstra, Jeska, Magro-Checa, Cesar, Broen, Jasper, Koeleman, Bobby P.C., Simeón, Carmen P., Fonollosa, Vicente, Guillén, Alfredo, Carreira, Patricia, Castellví, Iván, González-Gay, Miguel A., Ríos, Raquel, Callejas-Rubio, Jose Luis, Vargas-Hitos, José A., García-Portales, Rosa, Camps, María Teresa, Fernández-Nebro, Antonio, González-Escribano, María F., García-Hernández, Francisco José, Castillo, Ma Jesús, Aguirre, Ma Ángeles, Gómez-Gracia, Inmaculada, Rodríguez-Rodríguez, Luis, Fernández-Gutiérrez, Benjamín, de la Peña, Paloma García, Vicente, Esther, Andreu, José Luis, Fernández de Castro, Mónica, López-Longo, Francisco Javier, Martínez, Lina, Espinosa, Gerard, Tolosa, Carlos, Pros, Anna, Rodríguez-Carballeira, Mónica, Narváez, Francisco Javier, Rubio-Rivas, Manel, Ortiz-Santamaría, Vera, Madroñero, Ana Belén, Díaz, Bernardino, Trapiella, Luis, Sousa, Adrián, Egurbide, María Victoria, Fanlo-Mateo, Patricia, Sáez-Comet, Luis, Díaz-González, Federico, Hernández, Vanesa, Beltrán, Emma, Román-Ivorra, José Andrés, Grau, Elena, Alegre-Sancho, Juan José, Blanco-García, Francisco J., Oreiro, Natividad, Freire, Mayka, Balsa, Alejandro, Ortiz, Ana M., Hunzelmann, Nicolas, Riemekasten, Gabriela, Distler, Jörg H.W., Witte, Torsten, Airó, Paolo, Beretta, Lorenzo, Santaniello, Alessandro, Bellocchi, Chiara, Lunardi, Claudio, Moroncini, Gianluca, Gabrielli, Armando, Universidad de Salamanca, Junta de Andalucía, Instituto de Salud Carlos III, Ministerio de Economía, Industria y Competitividad (España), Ministerio de Economía y Competitividad (España), Rheumatology, AII - Inflammatory diseases, Julià, Antonio [0000-0001-6064-3620], Franke, Andre [0000-0003-1530-5811], Mayes, Maureen D [0000-0001-5070-2535], Apollo - University of Cambridge Repository, Mayes, Maureen D. [0000-0001-5070-2535], and Universidad de Cantabria
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0301 basic medicine ,Male ,Settore MED/09 - Medicina Interna ,692/699/249/2510 ,45/43 ,Gene Expression ,lcsh:Medicine ,Genome-wide association study ,Single-nucleotide polymorphism ,Locus (genetics) ,Disease ,Inflammatory diseases ,SLC22A5 ,Polymorphism, Single Nucleotide ,03 medical and health sciences ,0302 clinical medicine ,Crohn Disease ,medicine ,Humans ,Genetic Predisposition to Disease ,Allele ,lcsh:Science ,Genetic association ,030203 arthritis & rheumatology ,Genetics ,Crohn's disease ,Multidisciplinary ,Scleroderma, Systemic ,45 ,biology ,lcsh:R ,article ,medicine.disease ,digestive system diseases ,3. Good health ,Settore MED/16 - Reumatologia ,030104 developmental biology ,Risk factors ,Genetic Loci ,Case-Control Studies ,biology.protein ,Female ,lcsh:Q ,692/499 ,Genome-Wide Association Study - Abstract
We thank Sofia Vargas and Gema Robledo for her excellent technical assistance and all the patients and control donors for their essential collaboration. We thank WTCCC (Welcome Trust Case Control Consortium) for the access to GWAS data of Crohn’s disease patients and healthy controls, Banco Nacional de ADN (University of Salamanca, Spain) who supplied part of the control DNA samples, and dbGap for granting access to the IBD Genetics Consortium (IBDGC) Crohn’s Disease GWAS data (phs000130.v1.p1). The IBDGC Crohn’s Disease Genome-Wide Association Study was conducted by the IBDGC Investigators and supported by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). This manuscript was not prepared in collaboration with Investigators of the IBDGC Crohn’s Disease Genome-Wide Association Study and does not necessarily reflect the opinions or views of the IBDGC Crohn’s Disease Genome-Wide Association Study, the NIDDK Central Repositories, or the NIDDK., Genome-wide association studies (GWASs) have identified a number of genetic risk loci associated with systemic sclerosis (SSc) and Crohn’s disease (CD), some of which confer susceptibility to both diseases. In order to identify new risk loci shared between these two immune-mediated disorders, we performed a cross-disease meta-analysis including GWAS data from 5,734 SSc patients, 4,588 CD patients and 14,568 controls of European origin. We identified 4 new loci shared between SSc and CD, IL12RB2, IRF1/SLC22A5, STAT3 and an intergenic locus at 6p21.31. Pleiotropic variants within these loci showed opposite allelic effects in the two analysed diseases and all of them showed a significant effect on gene expression. In addition, an enrichment in the IL-12 family and type I interferon signaling pathways was observed among the set of SSc-CD common genetic risk loci. In conclusion, through the first cross-disease meta-analysis of SSc and CD, we identified genetic variants with pleiotropic effects on two clinically distinct immune-mediated disorders. The fact that all these pleiotropic SNPs have opposite allelic effects in SSc and CD reveals the complexity of the molecular mechanisms by which polymorphisms affect diseases., This work was supported by the Spanish Ministry of Economy and Competitiveness (SAF2015-66761-P; IPT-010000-2010-36, cofunded by the European Regional Development Fund), Consejería de Innovación, Ciencia y Tecnología, Junta de Andalucía (Spain) (P12-BIO-1395) and the Cooperative Research Thematic Network (RETICS) programme (RD16/0012/0013) (RIER) from Instituto de Salud Carlos III (ISCIII, Spanish Ministry of Economy, Industry and Competitiveness). AM is recipient of a Miguel Servet fellowship (CP17/00008) from ISCIII (Spanish Ministry of Economy, Industry and Competitiveness). DGS was supported by the Spanish Ministry of Economy and Competitiveness through the FPI programme (SAF2015-66761-P). This work is part of the Doctoral Thesis “Bases Genéticas de la Esclerosis Sistémica: Integrando Genómica y Transcriptómica”.
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- 2020
3. Spectrum van psoriatische aandoeningen
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Pouw, Juliëtte N., Leijten, Emmerik F.A., Tekstra, Janneke, Balak, Deepak M.W., and Radstake, Timothy R.D.J.
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Medicine(all) ,urologic and male genital diseases - Abstract
Psoriasis is a common immune-mediated inflammatory condition that primarily affects skin and nails. 6-41% of psoriasis patients develop psoriatic arthritis (PsA). The ways in which PsA can manifest itself include peripheral arthritis, axial spondyloarthritis, dactylitis and enthesitis. This heterogeneous clinical picture makes it sometimes difficult to recognise PsA,potentially resulting in permanent joint damage and functional impairments. Some people see psoriasis and PsA as 2 manifestations of a single disease because the multifactorial origins of psoriasis and PsA are largely overlapping. Psoriatic conditions are associated with a high burden of disease, reduced quality of life and comorbidities, including psychiatric and cardiovascular conditions. In recent years, several immunological pathways, immune cells and cytokines have been identified as important factors in pathophysiology and as new therapeutic targets. For many PsA patients treatment with disease modifying anti-rheumatic drugs leads to significant improvement of symptoms and quality of life.
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- 2019
4. World Arthritis Day 2018 - Perspectives on Rheumatic musculoskeletal diseases
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Radstake, Timothy R.D.J., McInnes, Iain B., and Bijlsma, Johannes W.J.
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Immunology ,Immunology and Allergy - Published
- 2018
5. Influence of TYK2 in systemic sclerosis susceptibility: a new locus in the IL-12 pathway
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López Isac, Elena, Campillo Davo, Diana, Bossini Castillo, Lara, Guerra, Sandra G., Assassi, Shervin, Simeón Aznar, Carmen Pilar, Carreira, Patricia, Ortego Centeno, Norberto, García de la Peña, Paloma, Beretta, Lorenzo, Santaniello, Alessandro, Bellocchi, Chiara, Lunardi, Claudio, Moroncini, Gianluca, Gabrielli, Armando, Riemestaken, Gabriela, Witte, Torsten, Hunzelmann, Nicolas, Kreuter, Alexander, Distler, Jörg H.V., Voskuyl, Alexandre E., Vries-Bouwstra, Jeska de, Herrick, Ariane L., Worthington, Jane, Denton, Christopher P., Fonseca, Carmen, Radstake, Timothy R.D.J., Mayes, Maureen D., Martín, Javier, Spanish Scleroderma Study Group (SSSG), Espinosa Garriga, Gerard, Rheumatology, AII - Inflammatory diseases, and Universitat de Barcelona
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0301 basic medicine ,Autoimmune diseases ,Genome-wide association study ,Logistic regression ,Genètica mèdica ,Human genetics ,Medizinische Fakultät ,Citoquines ,Immunology and Allergy ,Missense mutation ,Genètica humana ,Malalties autoimmunitàries ,Medical genetics ,Interleukin-12 ,Connective tissue disease ,Cytokines ,Signal Transduction ,Immunology ,Mutation, Missense ,Locus (genetics) ,Systemic Sclerosis ,Genetic polymorphisms ,Polymorphism, Single Nucleotide ,Article ,General Biochemistry, Genetics and Molecular Biology ,03 medical and health sciences ,Rheumatology ,Gene Polymorphism ,Journal Article ,medicine ,Humans ,Genetic Predisposition to Disease ,ddc:610 ,Allele ,TYK2 Kinase ,Scleroderma, Systemic ,business.industry ,Polimorfisme genètic ,Case-control study ,medicine.disease ,Treatment ,030104 developmental biology ,Case-Control Studies ,Gene polymorphism ,business ,Genome-Wide Association Study ,Meta-Analysis - Abstract
OBJECTIVES: TYK2 is a common genetic risk factor for several autoimmune diseases. This gene encodes a protein kinase involved in interleukin 12 (IL-12) pathway, which is a well-known player in the pathogenesis of systemic sclerosis (SSc). Therefore, we aimed to assess the possible role of this locus in SSc. METHODS: This study comprised a total of 7103 patients with SSc and 12 220 healthy controls of European ancestry from Spain, USA, Germany, the Netherlands, Italy and the UK. Four TYK2 single-nucleotide polymorphisms (V362F (rs2304256), P1104A (rs34536443), I684S (rs12720356) and A928V (rs35018800)) were selected for follow-up based on the results of an Immunochip screening phase of the locus. Association and dependence analyses were performed by the means of logistic regression and conditional logistic regression. Meta-analyses were performed using the inverse variance method. RESULTS: Genome-wide significance level was reached for TYK2 V362F common variant in our pooled analysis ( p=3.08×10(−13), OR=0.83), while the association of P1104A, A928V and I684S rare and low-frequency missense variants remained significant with nominal signals ( p=2.28×10(−3), OR=0.80; p=1.27×10(−3), OR=0.59; p=2.63×10(−5), OR=0.83, respectively). Interestingly, dependence and allelic combination analyses showed that the strong association observed for V362F with SSc, corresponded to a synthetic association dependent on the effect of the three previously mentioned TYK2 missense variants. CONCLUSIONS: We report for the first time the association of TYK2 with SSc and reinforce the relevance of the IL-12 pathway in SSc pathophysiology.
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- 2015
6. A genome wide association study follow-up suggests a possible role of PPARG in systemic esclerosis susceptiblity
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López Isac, Elena, Bossini Castillo, Lara, Simeón Aznar, Carmen Pilar, Egurbide Arberas, María Victoria, Alegre-Sancho, Juan José, Callejas Rubio, José Luis, Román-Ivorra, José Andrés, Freire, Mayka, Beretta, Lorenzo, Santaniello, Alessandro, Airó, Paolo, Lunardi, Claudio, Hunzelmann, Nicolas, Riemestaken, Gabriela, Witte, Torsten, Kreuter, Alexander, Distler, Jörg H.V., Schuerwegh, Annemie J., Vonk, Madelon C., Voskuyl, Alexandre E., Shiels, Paul G., van Laar, Jacob M., Fonseca, Carmen, Denton, Christopher P., Herrick, Ariane L., Worthington, Jane, Assassi, Shervin, Koeleman, Bobby P. C., Mayes, Maureen D., Radstake, Timothy R.D.J., Martín, Javier, Espinosa Garriga, Gerard, Spanish Scleroderma Study Group (SSSG), Narváez García, Francisco Javier, Universidad de Cantabria, Rheumatology, CCA - Disease profiling, Sociedad Española de Reumatología, Ministerio de Economía y Competitividad (España), Junta de Andalucía, European League Against Rheumatism, Ministerio de Educación, Cultura y Deporte (España), Netherlands Organization for Scientific Research, Dutch Arthritis Foundation, National Institutes of Health (US), National Institute of Arthritis and Musculoskeletal and Skin Diseases (US), Congressionally Directed Medical Research Programs (US), and Universitat de Barcelona
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Adult ,Male ,Peroxisome proliferator-activated receptor gamma ,Genotype ,Autoimmune diseases ,Immunology ,Genome-wide association study ,Single-nucleotide polymorphism ,Bioinformatics ,Genoma humà ,Polymorphism, Single Nucleotide ,PPARG gene ,Cohort Studies ,03 medical and health sciences ,0302 clinical medicine ,Rheumatology ,GWAS ,Humans ,Immunology and Allergy ,Medicine ,Genetic Predisposition to Disease ,Genotyping ,030304 developmental biology ,030203 arthritis & rheumatology ,0303 health sciences ,Scleroderma, Systemic ,Malalties autoimmunitàries ,Human genome ,business.industry ,Middle Aged ,3. Good health ,SNP genotyping ,PPAR gamma ,Scleroderma (Disease) ,SYSTEMIC SCLEROSIS ,Cohort ,Inflammatory diseases Radboud Institute for Health Sciences [Radboudumc 5] ,Female ,SNPs ,Esclerodèrmia ,business ,Genome-Wide Association Study ,Research Article ,Cohort study - Abstract
[Introduction] A recent genome-wide association study (GWAS) comprising a French cohort of systemic sclerosis (SSc) reported several non-HLA single-nucleotide polymorphisms (SNPs) showing a nominal association in the discovery phase. We aimed to identify previously overlooked susceptibility variants by using a follow-up strategy., [Methods] Sixty-six non-HLA SNPs showing a P value, [Results] We observed nominal associations for both PPARG rs310746 (P MH = 1.90 × 10-6, OR, 1.28) and CHRNA9 rs6832151 (P MH = 4.30 × 10-6, OR, 1.17) genetic variants with SSc in the first step of our study. In the replication phase, we observed a trend of association for PPARG rs310746 (P value = 0.066; OR, 1.17). The combined overall Mantel-Haenszel meta-analysis of all the cohorts included in the present study revealed that PPARG rs310746 remained associated with SSc with a nominal non-genome-wide significant P value (P MH = 5.00 × 10-7; OR, 1.25). No evidence of association was observed for CHRNA9 rs6832151 either in the replication phase or in the overall pooled analysis., [Conclusion] Our results suggest a role of PPARG gene in the development of SSc., This work was supported by the following grants: JM was funded by GEN-FER from the Spanish Society of Rheumatology, SAF2009-11110 and SAF2012-34435 from the Spanish Ministry of Economy and Competitiveness, CTS-4977, and CTS-180 from Junta de Andalucía, and is sponsored by the Orphan Disease Program grant from the European League Against Rheumatism (EULAR). This study was also funded by PI-0590-2010, from Consejería de Salud y Bienestar Social, Junta de Andalucía, Spain. JLCR and JM are funded by Consejería de Salud, Junta de Andalucía, through PI-0590-2010. ELI was supported by Ministerio de Educación, Cultura y Deporte through the program FPU. TRDJR was funded by the VIDI laureate from the Dutch Association of Research (NWO) and Dutch Arthritis Foundation (National Reumafonds). TW was granted by DFG WI 1031/6.1. Study on USA samples were supported by US National Institutes of Health and National Institute of Arthritis and Musculoskeletal Diseases (NIH-NIAMS) R01-AR-055258, Two-Stage Genome Wide Association Study in Systemic Sclerosis (MDM) and by the NIH-NIAMS Center of Research Translation (CORT) in SSc (P50AR054144) (MDM, FCA, FKT), the NIH-NIAMS SSc Family Registry and DNA Repository (N01-AR-0-2251) (MDM), NIH-KL2RR024149 (SA), K23AR061436 (SA), and the Department of Defense Congressionally Directed Medical Research Programs (W81XWH-07-01-0111) (MDM).
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- 2014
7. Analysis of the association between CD40 and CD40 ligand polymorphisms and systemic sclerosis
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Teruel, María, Simeón Aznar, Carmen Pilar, Broen, Jasper C., Vonk, Madelon C., Carreira, Patricia, Camps García, María Teresa, García-Portales, Rosa, Delgado-Frías, Esmeralda, Gallego, Maria, Espinosa Garriga, Gerard, Spanish Scleroderma Study Group (SSSG), Beretta, Lorenzo, Airó, Paolo, Lunardi, Claudio, Riemekasten, Gabriela, Witte, Torsten, Krieg, Thomas, Kreuter, Alexander, Distler, Jörg H.V., Hunzelmann, Nicolas, Koeleman, Bobby P. C., Voskuyl, Alexandre E., Schuerwegh, Annemie J., González-Gay, Miguel A., Radstake, Timothy R.D.J., Martín, Javier, Narváez García, Francisco Javier, Rheumatology, CCA - Immuno-pathogenesis, Universitat de Barcelona, The Spanish Scleroderma Group, [Teruel,M, Martin,J] Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSICGranada, SpainArmilla (Granada), Spain. [Simeon,CP] Department of Internal Medicine, Hospital Valle de Hebron, Barcelona, Spain. [Broen,J, Vonk,MC] Department of Rheumatology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. [Carreira,P] Department of Rheumatology, Hospital 12 de Octubre, Madrid, Spain. [Camps,MT] Department of Internal Medicine, Hospital Carlos Haya, Málaga, Spain. [García-Portales,R] Department of Rheumatology, Hospital Virgen de la Victoria, Málaga, Spain. [Delgado-Frías,E] Department of Rheumatology, Hospital Universitario de Canarias, La Cuesta, San Cristóbal de La Laguna, Tenerife, Canarias, Spain. [Gallego,M] Department of Internal Medicine, Hospital Central de Asturias, Oviedo, Spain. [Espinosa,G] Department of Autoimmune Diseases, Hospital Clinic, Barcelona, Spain. [Beretta,L] Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca’Granda Ospedale Maggiore Policlinico. University of Milan, Milan, Italy. [Airó,P] Rheumatology Unit and Chair, Spedali Civili, Università degli Studi, Brescia, Italy. [Lunardi,C] Department of Medicine, Policlinico GB Rossi, Università degli studi di Verona, Verona, Italy. [Riemekasten,G] Department of Rheumatology and Clinical Immunology, Charité University Hospital and German Rheumatism Research Centre, a Leibniz Institute, Berlin, Germany. [Witte,T] Clinic for Immunology and Rheumatology Medical School, Hannover, Germany. [Krieg,T, and Hunzelmann,N] Department of Dermatology, University of Cologne, Germany. [Kreuter,A] Department of Dermatology, Allergology, and Venereology, Ruhr University of Bochum, Bochum, Germany. [Distler,JHW] Department of Internal Medicine 3, Institute for Clinical Immunology, University of Erlangen-Nuremberg, Erlangen, Germany. [Koeleman,BP] Section Complex Genetics, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands. [Voskuy,AE] Department of Rheumatology, VU University Medical Center, Amsterdam, The Netherlands. [Schuerwegh,AJ] Department of Rheumatology, Leiden University Medical Center, Leiden, The Netherlands. [González-Gay,MA] Department of Rheumatology, Hospital Universitario Marques de Valdecilla, IFIMAV, Santander, Spain. [Radstake,TRDJ] Department of Rheumatology and Clinical Immunology, University Utrecht Medical Center Utrecht, The Netherlands.
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systemic sclerosis ,Autoimmune diseases ,Genome-wide association study ,CD40 ,CD40L ,GWAS ,Serology ,Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings] ,0302 clinical medicine ,Pulmonary fibrosis ,Genotype ,Immunology and Allergy ,Diseases::Skin and Connective Tissue Diseases::Skin Diseases::Scleroderma, Systemic [Medical Subject Headings] ,skin and connective tissue diseases ,Giant cell arteritis ,0303 health sciences ,Chemicals and Drugs::Biological Factors::Antigens::Antigens, Surface::Antigens, Differentiation::Antigens, CD::Antigens, CD40 [Medical Subject Headings] ,Malalties autoimmunitàries ,integumentary system ,Predisposición genética a la enfermedad ,Fibrosi pulmonar ,Phenomena and Processes::Genetic Phenomena::Genotype::Genetic Predisposition to Disease [Medical Subject Headings] ,Phenotype ,Infection and autoimmunity Auto-immunity, transplantation and immunotherapy [NCMLS 1] ,Humanos ,3. Good health ,030220 oncology & carcinogenesis ,Evaluation of complex medical interventions Auto-immunity, transplantation and immunotherapy [NCEBP 2] ,Phenomena and Processes::Genetic Phenomena::Genotype [Medical Subject Headings] ,Research Article ,medicine.medical_specialty ,Esclerodermia sistémica ,Immunology ,CD40 Ligand ,Single-nucleotide polymorphism ,Polymorphism, Single Nucleotide ,03 medical and health sciences ,Rheumatology ,Internal medicine ,medicine ,Humans ,antígenos CD40 ,Genetic Predisposition to Disease ,CD40 Antigens ,Gene ,Arteritis de cèl·lules gegants ,030304 developmental biology ,Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single Nucleotide [Medical Subject Headings] ,Scleroderma, Systemic ,business.industry ,Chemicals and Drugs::Biological Factors::Antigens::Antigens, Surface::Antigens, Differentiation::Antigens, CD::CD40 Ligand [Medical Subject Headings] ,medicine.disease ,Ligando CD40 ,Scleroderma (Disease) ,Polimorfismo de Nucleótido Simple ,Esclerodèrmia ,business ,Genotipo - Abstract
Introduction The aim of the present study was to investigate the possible role of CD40 and CD40 ligand (CD40LG) genes in the susceptibility and phenotype expression of systemic sclerosis (SSc). Methods In total, 2,670 SSc patients and 3,245 healthy individuals from four European populations (Spain, Germany, The Netherlands, and Italy) were included in the study. Five single-nucleotide polymorphisms (SNPs) of CD40 (rs1883832, rs4810485, rs1535045) and CD40LG (rs3092952, rs3092920) were genotyped by using a predesigned TaqMan allele-discrimination assay technology. Meta-analysis was assessed to determine whether an association exists between the genetic variants and SSc or its main clinical subtypes. Results No evidence of association between CD40 and CD40LG genes variants and susceptibility to SSc was observed. Similarly, no significant statistical differences were observed when SSc patients were stratified by the clinical subtypes, the serologic features, and pulmonary fibrosis. Conclusions Our results do not suggest an important role of CD40 and CD40LG gene polymorphisms in the susceptibility to or clinical expression of SSc., This work was supported by the following grants. JM was funded by SAF2009-11110 from the Spanish Ministry of Science, by CTS-4977 and PI-0590-2010 from Junta de Andalucía, and by RETICS Program, RD08/0075 (RIER) from Instituto de Salud Carlos III (ISCIII), within the VI PN de I+D+i 2008-2011 (FEDER). T.R.D.J.R. was funded by the VIDI laureate from the Dutch Association of Research (NWO) and Dutch Arthritis Foundation (National Reumafonds). JM and TRDJR were sponsored by the Orphan Disease Program grant from the European League Against Rheumatism (EULAR). TW was awarded grants by DFG WI 1031/6.1 and DFG KFO 250 TP03. MT was supported by Spanish Ministry of Science through the program Juan de la Cierva (JCI-2010-08227).
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- 2012
8. Genome-wide association scan in systemic sclerosis identifies MHC region and two additional susceptibility loci On 2q32 and 7q32
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Radstake, Timothy R.D.J., Alizadeh, Behrooz Z., Palomino-Morales, Rogelio, Broen, Jasper C.A., Martin, Jose-Ezequiel, Slot, Ruben T., Simeon, Carmen, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), and Life Course Epidemiology (LCE)
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skin ,genetic association ,systemic sclerosis ,phenotype ,heredity ,rheumatology ,college ,health practitioner ,population ,autoimmune disease ,Caucasian ,stratification ,STAT4 protein ,death ,human ,skin and connective tissue diseases ,gene ,genome ,integumentary system ,deregulation ,pathogenesis ,fibrosis ,female ,disability ,risk factor ,genetic trait - Abstract
Purpose: Systemic Sclerosis (SSc) is an autoimmune disease characterized by fibrosis of the skin and internal organs that leads to profound disability and premature death. Accumulating evidence point to a strong genetic component that is underlying the susceptibility of SSc. Here we aimed to identify the genetic factors that underly SSc. Method & Results: To identify the genetic traits for SSc, we performed a genome-wide association study comparing 842 European Caucasian SSc cases with 1711 European Caucasian controls exploiting the Illumina human BeadChip. Using a replication cohort comprising 1640 European Caucasian SSc cases and 1700 controls matched for country of origin we aimed to replicate the 11 most strongly non-MHC associated SNPs in the GWAS and replicated the association of STAT4 (P = 4.03E-10). After stratification for SSc phenotype, significant association (P
- Published
- 2009
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