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4 results on '"Skin and Connective Tissue Diseases::Connective Tissue Diseases::Scleroderma, Systemic [DISEASES]"'

1. The Effect of Body Fat Distribution on Systemic Sclerosis

Author

Gonzalo Villanueva-Martin, Marialbert Acosta-Herrera, Martin Kerick, Elena López-Isac, Carmen P. Simeón, José L. Callejas, Shervin Assassi, Lorenzo Beretta, International SSc Group, Australian Scleroderma Interest Group (ASIG), Yannick Allanore, Susanna M. Proudman, Mandana Nikpour, Carmen Fonseca, Christopher P. Denton, Timothy R. D. J. Radstake, Maureen D. Mayes, Xia Jiang, Javier Martin, Lara Bossini-Castillo, Institut Català de la Salut, [Villanueva-Martin G, Kerick M, López-Isac E] Department of Cell Biology and Immunology, Institute of Parasitology and Biomedicine López-Neyra, CSIC, Granada, Spain. [Acosta-Herrera M] Systemic Autoimmune Disease Unit, Hospital Clínico San Cecilio, Instituto de Investigación Biosanitaria Ibs, Granada, Spain. [Simeón CP] Servei de Medicina Interna, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Callejas JL] Department of Internal Medicine, Hospital San Cecilio, Granada, Spain, and Vall d'Hebron Barcelona Hospital Campus

Subjects
obesity, systemic sclerosis, mendelian randomization, Skin and Connective Tissue Diseases::Connective Tissue Diseases::Scleroderma, Systemic [DISEASES], Esclerosi sistemàtica progressiva, Obesitat, Pathological Conditions, Signs and Symptoms::Signs and Symptoms::Body Weight::Overweight::Obesity [DISEASES], General Medicine, afecciones patológicas, signos y síntomas::signos y síntomas::peso corporal::sobrepeso::obesidad [ENFERMEDADES], enfermedades de la piel y tejido conjuntivo::enfermedades del tejido conjuntivo::esclerodermia sistémica [ENFERMEDADES]
Abstract

Obesity contributes to a chronic proinflammatory state, which is a known risk factor to develop immune-mediated diseases. However, its role in systemic sclerosis (SSc) remains to be elucidated. Therefore, we conducted a two-sample mendelian randomization (2SMR) study to analyze the effect of three body fat distribution parameters in SSc. As instrumental variables, we used the allele effects described for single nucleotide polymorphisms (SNPs) in different genomewide association studies (GWAS) for SSc, body mass index (BMI), waist-to-hip ratio (WHR) and WHR adjusted for BMI (WHRadjBMI). We performed local (pHESS) and genome-wide (LDSC) genetic correlation analyses between each of the traits and SSc and we applied several Mendelian randomization (MR) methods (i.e., random effects inverse-variance weight, MR-Egger regression, MR pleiotropy residual sum and outlier method and a multivariable model). Our results show no genetic correlation or causal relationship between any of these traits and SSc. Nevertheless, we observed a negative causal association between WHRadjBMI and SSc, which might be due to the effect of gastrointestinal complications suffered by the majority of SSc patients. In conclusion, reverse causality might be an especially difficult confounding factor to define the effect of obesity in the onset of SSc., MCIN/AEI RTI2018101332-B-100 IJC2018-038026-I IJC2019-040080-I PRE2019-087586, "ERDF A way of making Europe" - European Union, Red de Investigacion en Inflamacion y Enfermedades Reumaticas (RIER) from Instituto de Salud Carlos III RD16/0012/0013, ESF Investing in your future

Published
2022

2. Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis

Author

Kerick, Martin, Acosta-Herrera, Marialbert, Simeón-Aznar, Carmen Pilar, Callejas, José Luis, Assassi, Shervin, International SSc Group, Proudman, Susanna M, Nikpour, Mandana, Australian Scleroderma Interest Group (ASIG), PRECISESADS Clinical Consortium, Hunzelmann, Nicolas, Moroncini, Gianluca, de Vries-Bouwstra, Jeska K, Orozco, Gisela, Barton, Anne, Herrick, Ariane L, Terao, Chikashi, Allanore, Yannick, Fonseca, Carmen, Alarcón-Riquelme, Marta Eugenia, Radstake, Timothy R D J, Beretta, Lorenzo, Denton, Christopher P, Mayes, Maureen D, Martin, Javier, Institut Català de la Salut, [Kerick M] Department of Cell Biology and Immunology, Institute of Parasitology and Biomedicine López-Neyra, CSIC, Granada, Spain. [Acosta-Herrera M] Department of Cell Biology and Immunology, Institute of Parasitology and Biomedicine López-Neyra, CSIC, Granada, Spain. Systemic Autoimmune Disease Unit, Hospital Clínico San Cecilio, Instituto de Investigación Biosanitaria Ibs. GRANADA, Granada, Spain. [Simeón-Aznar CP] Servei de Medicina Interna, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Callejas JL] Department of Internal Medicine, Hospital San Cecilio, Granada, Spain. [Assassi S] Department of Rheumatology, The University of Texas Health Science Center at Houston, Houston, TX, USA, Vall d'Hebron Barcelona Hospital Campus, Rheumatology, and AII - Inflammatory diseases

Subjects
Otros calificadores::Otros calificadores::/genética [Otros calificadores], Skin and Connective Tissue Diseases::Connective Tissue Diseases::Scleroderma, Systemic [DISEASES], Genetics, Other subheadings::Other subheadings::/genetics [Other subheadings], Inflammatory diseases Radboud Institute for Health Sciences [Radboudumc 5], Esclerosi sistemàtica progressiva - Aspectes genètics, Genetic Phenomena::Genetic Phenomena::Genetic Structures::Transcriptome [PHENOMENA AND PROCESSES], Molecular Biology, Expressió gènica, enfermedades de la piel y tejido conjuntivo::enfermedades del tejido conjuntivo::esclerodermia sistémica [ENFERMEDADES], Genetics (clinical), fenómenos genéticos::expresión génica [FENÓMENOS Y PROCESOS]
Abstract

Copy number (CN) polymorphisms of complement C4 play distinct roles in many conditions, including immune-mediated diseases. We investigated the association of C4 CN with systemic sclerosis (SSc) risk. Imputed total C4, C4A, C4B, and HERV-K CN were analyzed in 26,633 individuals and validated in an independent cohort. Our results showed that higher C4 CN confers protection to SSc, and deviations from CN parity of C4A and C4B augmented risk. The protection contributed per copy of C4A and C4B differed by sex. Stronger protection was afforded by C4A in men and by C4B in women. C4 CN correlated well with its gene expression and serum protein levels, and less C4 was detected for both in SSc patients. Conditioned analysis suggests that C4 genetics strongly contributes to the SSc association within the major histocompatibility complex locus and highlights classical alleles and amino acid variants of HLA-DRB1 and HLA-DPB1 as C4-independent signals., MCIN/AEI by "ERDF A way of making Europe" RTI2018101332-B-100, Red de Investigacion en Inflamacion y Enfermedades Reumaticas (RIER) from Instituto de Salud Carlos III RD16/0012/0013, Innovative Medicines Initiative 1 & 2 Joint Undertaking (JU) 115565 831434, European Union's FP7 and Horizon 2020 research and innovation programs, EFPIA, Juan de la Cierva Incorporacion program - MCIN/AEI IJC2018-035131-I

Published
2022
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3. Standardized incidence ratios and risk factors for cancer in patients with systemic sclerosis: Data from the Spanish Scleroderma Registry (RESCLE)

Author

Carbonell, Cristina, Marcos, Miguel, Guillén-Del-Castillo, Alfredo, Rubio-Rivas, Manuel, Argibay, Ana, Marín-Ballvé, Adela, Rodríguez-Pintó, Ignasi, Baldà-Masmiquel, Maria, Callejas-Moraga, Eduardo, Colunga, Dolores, Sáez-Comet, Luis, González-Echávarri, Cristina, Ortego-Centeno, Norberto, Marí-Alfonso, Begoña, Vargas-Hitos, José-Antonio, Todolí-Parra, José-Antonio, Trapiella, Luis, Herranz-Marín, María-Teresa, Freire, Mayka, Castro-Salomó, Antoni, Perales-Fraile, Isabel, Madroñero-Vuelta, Ana-Belén, Sánchez-García, María-Esther, Ruiz-Muñoz, Manuel, González-García, Andrés, Sánchez-Redondo, Jorge, de-la-Red-Bellvis, Gloria, Fernández-Luque, Alejandra, Muela-Molinero, Alberto, Lledó, Gema-María, Tolosa-Vilella, Carles, Fonollosa-Pla, Vicent, Chamorro, Antonio-Javier, Simeón-Aznar, Carmen-Pilar, RESCLE Investigators, Autoimmune Diseases Study Group (GEAS), Universidad de Sevilla. Departamento de Medicina, Institut Català de la Salut, [Carbonell C, Marcos M] Department of Internal Medicine, Hospital Universitario de Salamanca, Universidad de Salamanca-IBSAL, Salamanca, Spain. [Guillén-Del-Castillo A, Fonollosa-Pla V, Simeón-Aznar CP] Unitat de Malalties Autoimmunes, Servei de Medicina Interna, Vall d'Hebron Hospital Universitari, Barcelona, Spain. [Rubio-Rivas M] Unit of Autoimmune Diseases, Department of Internal Medicine, Hospital Universitario de Bellvitge-IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain. [Argibay A] Unit of Systemic Autoimmune Diseases and Thrombosis, Department of Internal Medicine, Complejo Hospitalario Universitario de Vigo. Vigo, Pontevedra, Spain. [Marín-Ballvé A] Unit of Autoimmune Diseases, Department of Internal Medicine, Hospital Clínico Universitario Lozano Blesa, IIS Aragón. Zaragoza, Spain, and Vall d'Hebron Barcelona Hospital Campus

Subjects
Scleroderma, Systemic, Incidence, Immunology, Primary biliary cholangitis, Esclerosi sistemàtica progressiva - Complicacions, aminoácidos, péptidos y proteínas::proteínas::proteínas sanguíneas::inmunoproteínas::inmunoglobulinas::anticuerpos::autoanticuerpos [COMPUESTOS QUÍMICOS Y DROGAS], Autoanticossos, Càncer - Complicacions, enfermedades de la piel y tejido conjuntivo::enfermedades del tejido conjuntivo::esclerodermia sistémica [ENFERMEDADES], Neoplasms [DISEASES], neoplasias [ENFERMEDADES], Scleroderma, Localized, Amino Acids, Peptides, and Proteins::Proteins::Blood Proteins::Immunoproteins::Immunoglobulins::Antibodies::Autoantibodies [CHEMICALS AND DRUGS], Risk Factors, Neoplasms, Skin and Connective Tissue Diseases::Connective Tissue Diseases::Scleroderma, Systemic [DISEASES], Immunology and Allergy, Anticentromere antibody, Systemic sclerosis, Humans, Registries, Càncer, Cancer, Autoantibodies
Abstract

Anticentromere antibody; Cancer; Systemic sclerosis Anticuerpo anticentrómero; Cáncer; Esclerosis sistémica Anticòs anticentròmer; Càncer; Esclerosi sistèmica Aim Patients with systemic sclerosis (SSc) are at increased risk of cancer, a growing cause of non–SSc-related death among these patients. We analyzed the increased cancer risk among Spanish patients with SSc using standardized incidence ratios (SIRs) and identified independent cancer risk factors in this population. Material and methods Spanish Scleroderma Registry data were analyzed to determine the demographic characteristics of patients with SSc, and logistic regression was used to identify cancer risk factors. SIRs with 95% confidence intervals (CIs) relative to the general Spanish population were calculated. Results Of 1930 patients with SSc, 206 had cancer, most commonly breast, lung, hematological, and colorectal cancers. Patients with SSc had increased risks of overall cancer (SIR 1.48, 95% CI 1.36–1.60; P < 0.001), and of lung (SIR 2.22, 95% CI 1.77–2.73; P < 0.001), breast (SIR 1.31, 95% CI 1.10–1.54; P = 0.003), and hematological (SIR 2.03, 95% CI 1.52–2.62; P < 0.001) cancers. Cancer was associated with older age at SSc onset (odds ratio [OR] 1.22, 95% CI 1.01–1.03; P < 0.001), the presence of primary biliary cholangitis (OR 2.35, 95% CI 1.18–4.68; P = 0.015) and forced vital capacity

Published
2022

4. GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways

Author

López-Isac, E., Acosta-Herrera, M., Kerick, M., Assassi, S., Satpathy, A.T., Granja, J., Mumbach, M.R., Beretta, L., Simeón, C.P., Carreira, P., Ortego-Centeno, N., Castellvi, I., Bossini-Castillo, L., Carmona, F.D., Orozco, G., Hunzelmann, N., Distler, J.H.W., Franke, A., Lunardi, C., Moroncini, G., Gabrielli, A., de Vries-Bouwstra, J., Wijmenga, C., Koeleman, B.P.C., Nordin, A., Padyukov, L., Hoffmann-Vold, A.-M., Lie, B., Ríos, R., Callejas, J.L., Vargas-Hitos, J.A., García-Portales, R., Camps, M.T., Fernández-Nebro, A., González-Escribano, M.F., García-Hernández, F.J., Castillo, M.J., Aguirre, M.A., Gómez-Gracia, I., Fernández-Gutiérrez, B., Rodríguez-Rodríguez, L., García de la Peña, P., Vicente, E., Andreu, J.L., Fernández de Castro, M., López-Longo, F.J., Martínez, L., Fonollosa, V., Guillén, A., Espinosa, G., Tolosa, C., Pros, A., Rodríguez-Carballeira, M., Narváez, F.J., Rubio-Rivas, M., Ortiz-Santamaría, V, Madroñero, A.B., González-Gay, M.A., Díaz, B., Trapiella, L., Sousa, A., Egurbide, M.V., Fanlo-Mateo, P., Sáez-Comet, L., Díaz, F., Hernández, V, Beltrán, E., Román-Ivorra, J.A., Grau E., Alegre-Sancho, J.J., Freire, M., Blanco-García, F.J., Oreiro, N., Witte, T., Kreuter, A., Riemekasten, G., Airó P., Magro, C., Voskuyl, A.E., Vonk, M.C., Hesselstrand, R., Proudman S., Stevens, W., Nikpour, M., Zochling, J., Sahhar, J., Roddy, J., Nash, P., Tymms, K., Rischmueller, M., Lester, S., Vyse, T., Herrick, A.L., Worthington, J., Denton C.P., Allanore, Y., Brown, M.A., Radstake, T.R.D.J., Fonseca, C., Chang H.Y., Mayes, M.D., Martin, J., European Scleroderma Group, Australian Scleroderma Interest Group (ASIG), Universidad de Salamanca, Ministerio de Economía y Competitividad (España), Junta de Andalucía, Ministerio de Educación, Cultura y Deporte (España), Instituto de Salud Carlos III, Howard Hughes Medical Institute, Federal Ministry of Education and Research (Germany), Universidad de Cantabria, [López-Isac E, Acosta-Herrera M, Kerick M] Institute of Parasitology and Biomedicine López-Neyra, IPBLN-CSIC, Granada, Spain. [Assassi S] The University of Texas Health Science Center-Houston, Houston, USA. [Satpathy AT, Granja J] Center for Personal Dynamic Regulomes, Stanford University School of Medicine, Stanford, USA. Howard Hughes Medical Institute, Stanford University, Stanford, USA. [Simeón CP] Servei de Medicina Interna, Vall d'Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Rheumatology, and AII - Inflammatory diseases

Subjects
0301 basic medicine, Chemistry(all), AUTOIMMUNITY, Àcids nucleics, General Physics and Astronomy, Genome-wide association study, Disease, VARIANTS, Biochemistry, ANNOTATION, 0302 clinical medicine, Phosphopantothenoylcysteine decarboxylase, Single nucleotide, Non-U.S. Gov't, lcsh:Science, skin and connective tissue diseases, características del estudio::metaanálisis [CARACTERÍSTICAS DE PUBLICACIONES], Multidisciplinary, Nucleid acid conformation, integumentary system, Research Support, Non-U.S. Gov't, High-Throughput Nucleotide Sequencing, Genètica - Tècnica, 3. Good health, Nucleic acids, Sequence analysis DNA, Medical genetics, medicine.medical_specialty, Chromatin Immunoprecipitation, GENES, Investigative Techniques::Epidemiologic Methods::Epidemiologic Research Design::Genome-Wide Association Study [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Science, Non-P.H.S, Single-nucleotide polymorphism, Scleroderma systemic, Computational biology, Physics and Astronomy(all), Biology, Research Support, Study Characteristics::Meta-Analysis [PUBLICATION CHARACTERISTICS], Genetic polymorphisms, enfermedades de la piel y tejido conjuntivo::enfermedades del tejido conjuntivo::esclerodermia sistémica [ENFERMEDADES], Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, Functional genomics, Genome-wide association studies, Systemic sclerosis, Rheumatic diseases, CLASSIFICATION, N.I.H, 03 medical and health sciences, Research Support, N.I.H., Extramural, Diacylglycerol kinase theta, Molecular genetics, REVEALS, Journal Article, medicine, Humans, Vascular Diseases, Risk factor, Polymorphism, Genomes, GENOME-WIDE ASSOCIATION, METAANALYSIS, 030203 arthritis & rheumatology, Scleroderma, Systemic, Biochemistry, Genetics and Molecular Biology(all), Polimorfisme genètic, HUMAN-CELLS, Extramural, Bayes Theorem, General Chemistry, Sequence Analysis, DNA, Fibrosis, 030104 developmental biology, Scleroderma (Disease), Skin and Connective Tissue Diseases::Connective Tissue Diseases::Scleroderma, Systemic [DISEASES], técnicas de investigación::métodos epidemiológicos::diseño de la investigación epidemiológica::estudio de asociación genómica completa [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], Nucleic Acid Conformation, VISUALIZATION, lcsh:Q, U.S. Gov't, Esclerodèrmia, Research Support, U.S. Gov't, Non-P.H.S, Metaanàlisi, Genetics and Molecular Biology(all), Genome-Wide Association Study
Abstract

Systemic sclerosis (SSc) is an autoimmune disease that shows one of the highest mortality rates among rheumatic diseases. We perform a large genome-wide association study (GWAS), and meta-analysis with previous GWASs, in 26,679 individuals and identify 27 independent genome-wide associated signals, including 13 new risk loci. The novel associations nearly double the number of genome-wide hits reported for SSc thus far. We define 95% credible sets of less than 5 likely causal variants in 12 loci. Additionally, we identify specific SSc subtype-associated signals. Functional analysis of high-priority variants shows the potential function of SSc signals, with the identification of 43 robust target genes through HiChIP. Our results point towards molecular pathways potentially involved in vasculopathy and fibrosis, two main hallmarks in SSc, and highlight the spectrum of critical cell types for the disease. This work supports a better understanding of the genetic basis of SSc and provides directions for future functional experiments., We thank Sofia Vargas, Sonia García, and Gema Robledo for their excellent technical assistance and all the patients and control donors for their essential collaboration. We thank National DNA Bank Carlos III (University of Salamanca, Spain) that supplied part of the control DNA samples from Spain, WTCCC and EIRA Consortiums, and PopGen 2.0 network. This work was supported by Spanish Ministry of Economy and Competitiveness (grant ref. SAF2015-66761-P), Consejeria de Innovacion, Ciencia y Tecnologia, Junta de Andalucía (P12-BIO-1395), Ministerio de Educación, Cultura y Deporte through the program FPU, Juan de la Cierva fellowship (FJCI-2015-24028), Red de Investigación en Inflamación y Enfermadades Reumaticas (RIER) from Instituto de Salud Carlos III (RD16/0012/0013), and Scleroderma Research Foundation and NIH P50- HG007735 (to H.Y.C.). H.Y.C. is an Investigator of the Howard Hughes Medical Institute. PopGen 2.0 is supported by a grant from the German Ministry for Education and Research (01EY1103). M.D.M and S.A. are supported by grant DoD W81XWH-18-1- 0423 and DoD W81XWH-16-1-0296, respectively

Published
2019
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