Identification of an Association of TNFAIP3 Polymorphisms With Matrix Metalloproteinase Expression in Fibroblasts in an Integrative Study of Systemic Sclerosis–Associated Genetic and Environmental Factors

Systemic sclerosis (SSc) is a fibrotic disease attributed to both genetic susceptibility and environmental factors. This study was undertaken to investigate the associations between SSc‐associated genetic variants and the expression of extracellular matrix (ECM) genes in human fibroblasts stimulated with silica particles in time‐course and dose‐response experiments.

[1]  E. Orilieri,et al.  Association of osteopontin regulatory polymorphisms with systemic sclerosis. , 2011, Human immunology.

[2]  E. Plow,et al.  Distinct Roles for the α and β Subunits in the Functions of Integrin αMβ2* , 2004, Journal of Biological Chemistry.

[3]  I. Fajardy,et al.  Association between the IRF5 rs2004640 functional polymorphism and systemic sclerosis: a new perspective for pulmonary fibrosis. , 2009, Arthritis and rheumatism.

[4]  A. Ma,et al.  A20: linking a complex regulator of ubiquitylation to immunity and human disease , 2012, Nature Reviews Immunology.

[5]  S. Shete,et al.  Polymorphisms in TBX21 and STAT4 increase the risk of systemic sclerosis: evidence of possible gene-gene interaction and alterations in Th1/Th2 cytokines. , 2009, Arthritis and rheumatism.

[6]  S. Shete,et al.  Association of the C8orf13-BLK region with systemic sclerosis in North-American and European populations. , 2010, Journal of autoimmunity.

[7]  Annette Lee,et al.  Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy , 2011, PLoS genetics.

[8]  Carolyn Hutter,et al.  Powerful Cocktail Methods for Detecting Genome‐Wide Gene‐Environment Interaction , 2012, Genetic epidemiology.

[9]  T. Radstake,et al.  The autoimmune disease-associated IL2RA locus is involved in the clinical manifestations of systemic sclerosis , 2011, Genes and Immunity.

[10]  J. Cracowski,et al.  Association of the TNFAIP3 rs5029939 variant with systemic sclerosis in the European Caucasian population , 2010, Annals of the rheumatic diseases.

[11]  R. Abbate,et al.  Basic and translational research , 2012 .

[12]  Jane Worthington,et al.  Implication of IL-2/IL-21 region in systemic sclerosis genetic susceptibility , 2012, Annals of the rheumatic diseases.

[13]  R. Madhok,et al.  Association of a non-synonymous functional variant of the ITGAM gene with systemic sclerosis , 2011, Annals of the rheumatic diseases.

[14]  M. Kubo,et al.  PLD4 as a novel susceptibility gene for systemic sclerosis in a Japanese population. , 2013, Arthritis and rheumatism.

[15]  Annette Lee,et al.  Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus , 2010, Nature Genetics.

[16]  M. Trojanowska Molecular aspects of scleroderma. , 2002, Frontiers in bioscience : a journal and virtual library.

[17]  Andrew D. Johnson,et al.  SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap , 2008, Bioinform..

[18]  Xiaodong Zhou,et al.  Systemic Sclerosis is a Complex Disease Associated Mainly with Immune Regulatory and Inflammatory Genes , 2014, The open rheumatology journal.

[19]  M. Mayes,et al.  Extended Report , 2022 .

[20]  Erika Salvi,et al.  Genome-Wide Scan Identifies TNIP1, PSORS1C1, and RHOB as Novel Risk Loci for Systemic Sclerosis , 2011, PLoS genetics.

[21]  R. Cowie Silica-dust-exposed mine workers with scleroderma (systemic sclerosis). , 1987, Chest.

[22]  E. Shevach Certified Professionals , 2001, The Journal of experimental medicine.

[23]  Torsten Witte,et al.  A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. , 2013, Human molecular genetics.

[24]  Torsten Witte,et al.  Identification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study follow-up. , 2012, Human molecular genetics.

[25]  Annette Lee,et al.  Immunochip analysis identifies multiple susceptibility loci for systemic sclerosis. , 2014, American journal of human genetics.

[26]  M. Xiong,et al.  Differential Dynamic Properties of Scleroderma Fibroblasts in Response to Perturbation of Environmental Stimuli , 2008, PloS one.

[27]  Eurie L. Hong,et al.  Annotation of functional variation in personal genomes using RegulomeDB , 2012, Genome research.

[28]  J. Cracowski,et al.  BANK1 is a genetic risk factor for diffuse cutaneous systemic sclerosis and has additive effects with IRF5 and STAT4. , 2009, Arthritis and rheumatism.

[29]  J. Cracowski,et al.  Candidate Gene Study in Systemic Sclerosis Identifies a Rare and Functional Variant of the TNFAIP 3 Locus as a Risk Factor for Polyautoimmunity , 2012 .

[30]  N. Copeland,et al.  The E3 ligase Itch negatively regulates inflammatory signaling pathways by controlling the function of the ubiquitin-editing enzyme A20 , 2008, Nature Immunology.

[31]  L. F. Jobim,et al.  Combined effects of CXCL8 and CXCR2 gene polymorphisms on susceptibility to systemic sclerosis. , 2012, Cytokine.

[32]  James A. Morris,et al.  optiCall: a robust genotype-calling algorithm for rare, low-frequency and common variants , 2012, Bioinform..

[33]  H. Wichmann,et al.  Evidence of the contribution of the X chromosome to systemic sclerosis susceptibility: association with the functional IRAK1 196Phe/532Ser haplotype. , 2011, Arthritis and rheumatism.

[34]  Sampath Prahalad,et al.  Evaluation of genetic association between an ITGAM non-synonymous SNP (rs1143679) and multiple autoimmune diseases. , 2012, Autoimmunity reviews.

[35]  H. Shinkai,et al.  Gene expression of types I and III collagen, decorin, matrix metalloproteinases and tissue inhibitors of metalloproteinases in skin fibroblasts from patients with systemic sclerosis , 1997, Archives of Dermatological Research.

[36]  A. Peters,et al.  A regulatory variant in CCR6 is associated with susceptibility to antitopoisomerase-positive systemic sclerosis. , 2013, Arthritis and rheumatism.

[37]  G. Molenberghs Applied Longitudinal Analysis , 2005 .

[38]  S. Shete,et al.  Extended Report , 2022 .

[39]  James F. Fries,et al.  Preliminary criteria for the classification of systemic sclerosis (scleroderma). Subcommittee for scleroderma criteria of the American Rheumatism Association Diagnostic and Therapeutic Criteria Committee. , 1980, Arthritis and rheumatism.

[40]  C. Jagannath,et al.  Uptake and Silica and Carbon Nanotubes by Human Macrophages/Monocytes Induces Activation of Fibroblasts in vitro — Potential Implication for Pathogenesis of Inflammation and Fibrotic Diseases , 2012, International journal of immunopathology and pharmacology.

[41]  Eun-Jung Park,et al.  Oxidative stress and pro-inflammatory responses induced by silica nanoparticles in vivo and in vitro. , 2009, Toxicology letters.

[42]  S. Thompson,et al.  Quantifying heterogeneity in a meta‐analysis , 2002, Statistics in medicine.

[43]  J. Cracowski,et al.  Brief report: candidate gene study in systemic sclerosis identifies a rare and functional variant of the TNFAIP3 locus as a risk factor for polyautoimmunity. , 2012, Arthritis and rheumatism.

[44]  S. Slimani,et al.  Connective tissue diseases after heavy exposure to silica: a report of nine cases in stonemasons , 2010, Clinical Rheumatology.

[45]  E. Donadi,et al.  Patients with Systemic Sclerosis Present Increased DNA Damage Differentially Associated with DNA Repair Gene Polymorphisms , 2014, The Journal of Rheumatology.

[46]  M. Mayes,et al.  The FAS -670A>G polymorphism influences susceptibility to systemic sclerosis phenotypes. , 2009, Arthritis and rheumatism.

[47]  Wei Chen,et al.  A nonsynonymous functional variant in integrin-αM (encoded by ITGAM) is associated with systemic lupus erythematosus , 2008, Nature Genetics.

[48]  R. Scorza,et al.  The STAT4 gene influences the genetic predisposition to systemic sclerosis phenotype. , 2009, Human molecular genetics.

[49]  J. Cracowski,et al.  NLRP1 influences the systemic sclerosis phenotype: a new clue for the contribution of innate immunity in systemic sclerosis-related fibrosing alveolitis pathogenesis , 2010, Annals of the rheumatic diseases.

[50]  Morgan C. Giddings,et al.  Defining functional DNA elements in the human genome , 2014, Proceedings of the National Academy of Sciences.

[51]  A. Masi Preliminary criteria for the classification of systemic sclerosis (scleroderma). , 1980, Bulletin on the rheumatic diseases.

[52]  D. Thomas,et al.  Gene–environment-wide association studies: emerging approaches , 2010, Nature Reviews Genetics.