Literature DB >> 23311619

Genetics of scleroderma: implications for personalized medicine?

Shervin Assassi1, Timothy R D J Radstake, Maureen D Mayes, Javier Martin.   

Abstract

Significant advances have been made in understanding the genetic basis of systemic sclerosis (scleroderma) in recent years. Can these discoveries lead to individualized monitoring and treatment? Besides robustly replicated genetic susceptibility loci, several genes have been recently linked to various systemic sclerosis disease manifestations. Furthermore, inclusion of genetic studies in design and analysis of drug trials could lead to development of genetic biomarkers that predict treatment response. Future genetic studies in well-characterized systemic sclerosis cohorts paired with advanced analytic approaches can lead to development of genetic biomarkers for targeted diagnostic and therapeutic interventions in systemic sclerosis.

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Year:  2013        PMID： 23311619      PMCID： PMC3568008          DOI： 10.1186/1741-7015-11-9

Source DB:  PubMed          Journal:  BMC Med        ISSN： 1741-7015            Impact factor:   8.775


  44 in total

1.  Association of the TNFAIP3 rs5029939 variant with systemic sclerosis in the European Caucasian population.

Authors:  P Dieudé; M Guedj; J Wipff; B Ruiz; G Riemekasten; M Matucci-Cerinic; I Melchers; E Hachulla; P Airo; E Diot; N Hunzelmann; J Cabane; L Mouthon; J L Cracowski; V Riccieri; J Distler; O Meyer; A Kahan; C Boileau; Y Allanore
Journal:  Ann Rheum Dis       Date:  2010-05-28       Impact factor: 19.103

2.  HLA-DRB1*0407 and *1304 are risk factors for scleroderma renal crisis.

Authors:  Binh Nguyen; Maureen D Mayes; Frank C Arnett; Deborah del Junco; John D Reveille; Emilio B Gonzalez; Hilda T Draeger; Marilyn Perry; Amir Hendiani; Kiran K Anand; Shervin Assassi
Journal:  Arthritis Rheum       Date:  2011-02

3.  Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.

Authors:  Timothy R D J Radstake; Olga Gorlova; Blanca Rueda; Jose-Ezequiel Martin; Behrooz Z Alizadeh; Rogelio Palomino-Morales; Marieke J Coenen; Madelon C Vonk; Alexandre E Voskuyl; Annemie J Schuerwegh; Jasper C Broen; Piet L C M van Riel; Ruben van 't Slot; Annet Italiaander; Roel A Ophoff; Gabriela Riemekasten; Nico Hunzelmann; Carmen P Simeon; Norberto Ortego-Centeno; Miguel A González-Gay; María F González-Escribano; Paolo Airo; Jaap van Laar; Ariane Herrick; Jane Worthington; Roger Hesselstrand; Vanessa Smith; Filip de Keyser; Fredric Houssiau; Meng May Chee; Rajan Madhok; Paul Shiels; Rene Westhovens; Alexander Kreuter; Hans Kiener; Elfride de Baere; Torsten Witte; Leonid Padykov; Lars Klareskog; Lorenzo Beretta; Rafaella Scorza; Benedicte A Lie; Anna-Maria Hoffmann-Vold; Patricia Carreira; John Varga; Monique Hinchcliff; Peter K Gregersen; Annette T Lee; Jun Ying; Younghun Han; Shih-Feng Weng; Christopher I Amos; Fredrick M Wigley; Laura Hummers; J Lee Nelson; Sandeep K Agarwal; Shervin Assassi; Pravitt Gourh; Filemon K Tan; Bobby P C Koeleman; Frank C Arnett; Javier Martin; Maureen D Mayes
Journal:  Nat Genet       Date:  2010-04-11       Impact factor: 38.330

4.  Phenotype-haplotype correlation of IRF5 in systemic sclerosis: role of 2 haplotypes in disease severity.

Authors:  Philippe Dieude; Karen Dawidowicz; Mickaël Guedj; Yona Legrain; Julien Wipff; Eric Hachulla; Elisabeth Diot; Jean Sibilia; Luc Mouthon; Jean Cabane; Zahir Amoura; Jean-Luc Crakowski; Patrick Carpentier; Jerome Avouac; Olivier Meyer; Andre Kahan; Catherine Boileau; Yannick Allanore
Journal:  J Rheumatol       Date:  2010-03-15       Impact factor: 4.666

Review 5.  The genetics of scleroderma.

Authors:  Javier Martin; Carmen Fonseca
Journal:  Curr Rheumatol Rep       Date:  2011-02       Impact factor: 4.592

6.  A genetic variation located in the promoter region of the UPAR (CD87) gene is associated with the vascular complications of systemic sclerosis.

Authors:  Mirko Manetti; Yannick Allanore; Lucile Revillod; Cinzia Fatini; Serena Guiducci; Giovanna Cuomo; Claudia Bonino; Valeria Riccieri; Laura Bazzichi; Vasiliki Liakouli; Paola Cipriani; Roberto Giacomelli; Rosanna Abbate; Stefano Bombardieri; Guido Valesini; Carlomaurizio Montecucco; Gabriele Valentini; Lidia Ibba-Manneschi; Marco Matucci-Cerinic
Journal:  Arthritis Rheum       Date:  2011-01

7.  Causes and risk factors for death in systemic sclerosis: a study from the EULAR Scleroderma Trials and Research (EUSTAR) database.

Authors:  Anthony J Tyndall; Bettina Bannert; Madelon Vonk; Paolo Airò; Franco Cozzi; Patricia E Carreira; Dominique Farge Bancel; Yannick Allanore; Ulf Müller-Ladner; Oliver Distler; Florenzo Iannone; Raffaele Pellerito; Margarita Pileckyte; Irene Miniati; Lidia Ananieva; Alexandra Balbir Gurman; Nemanja Damjanov; Adelheid Mueller; Gabriele Valentini; Gabriela Riemekasten; Mohammed Tikly; Laura Hummers; Maria J S Henriques; Paola Caramaschi; Agneta Scheja; Blaz Rozman; Evelien Ton; Gábor Kumánovics; Bernard Coleiro; Eva Feierl; Gabriella Szucs; Carlos Alberto Von Mühlen; Valeria Riccieri; Srdan Novak; Carlo Chizzolini; Anna Kotulska; Christopher Denton; Paulo C Coelho; Ina Kötter; Ismail Simsek; Paloma García de la Pena Lefebvre; Eric Hachulla; James R Seibold; Simona Rednic; Jirí Stork; Jadranka Morovic-Vergles; Ulrich A Walker
Journal:  Ann Rheum Dis       Date:  2010-06-15       Impact factor: 19.103

8.  Association of a KCNA5 gene polymorphism with systemic sclerosis-associated pulmonary arterial hypertension in the European Caucasian population.

Authors:  J Wipff; P Dieudé; M Guedj; B Ruiz; G Riemekasten; J L Cracowski; M Matucci-Cerinic; I Melchers; M Humbert; E Hachulla; P Airo; E Diot; N Hunzelmann; P Caramaschi; J Sibilia; G Valentini; K Tiev; B Girerd; L Mouthon; V Riccieri; P H Carpentier; J Distler; Z Amoura; I Tarner; B Degano; J Avouac; O Meyer; A Kahan; C Boileau; Y Allanore
Journal:  Arthritis Rheum       Date:  2010-10

9.  Analysis of the influence of PTPN22 gene polymorphisms in systemic sclerosis.

Authors:  L M Diaz-Gallo; P Gourh; J Broen; C Simeon; V Fonollosa; N Ortego-Centeno; S Agarwal; M C Vonk; M Coenen; G Riemekasten; N Hunzelmann; R Hesselstrand; F K Tan; J D Reveille; S Assassi; F J García-Hernandez; P Carreira; M T Camps; A Fernandez-Nebro; P Garcia de la Peña; T Nearney; D Hilda; M A González-Gay; P Airo; L Beretta; R Scorza; A Herrick; J Worthington; A Pros; I Gómez-Gracia; L Trapiella; G Espinosa; I Castellvi; T Witte; F de Keyser; M Vanthuyne; M D Mayes; T R D J Radstake; F C Arnett; J Martin; B Rueda
Journal:  Ann Rheum Dis       Date:  2010-12-03       Impact factor: 19.103

10.  Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.

Authors:  George F Mells; James A B Floyd; Katherine I Morley; Heather J Cordell; Christopher S Franklin; So-Youn Shin; Michael A Heneghan; James M Neuberger; Peter T Donaldson; Darren B Day; Samantha J Ducker; Agnes W Muriithi; Elizabeth F Wheater; Christopher J Hammond; Muhammad F Dawwas; David E Jones; Leena Peltonen; Graeme J Alexander; Richard N Sandford; Carl A Anderson
Journal:  Nat Genet       Date:  2011-03-13       Impact factor: 38.330
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  24 in total

Review 1.  Personalized medicine in systemic sclerosis: facts and promises.

Authors:  Rucsandra Dobrota; Carina Mihai; Oliver Distler
Journal:  Curr Rheumatol Rep       Date:  2014-06       Impact factor: 4.592

Review 2.  Pathogenesis of Systemic Sclerosis.

Authors:  Debendra Pattanaik; Monica Brown; Bradley C Postlethwaite; Arnold E Postlethwaite
Journal:  Front Immunol       Date:  2015-06-08       Impact factor: 7.561

Review 3.  The role of common protective alleles HLA-DRB1*13 among systemic autoimmune diseases.

Authors:  H Furukawa; S Oka; N Tsuchiya; K Shimada; A Hashimoto; S Tohma; A Kawasaki
Journal:  Genes Immun       Date:  2016-11-10       Impact factor: 2.676

4.  The mechanistic implications of gene expression studies in SSc: Insights from Systems Biology.

Authors:  Jaclyn N Taroni; J Matthew Mahoney; Michael L Whitfield
Journal:  Curr Treatm Opt Rheumatol       Date:  2017-07-29

Review 5.  Emerging roles of innate immune signaling and toll-like receptors in fibrosis and systemic sclerosis.

Authors:  Swati Bhattacharyya; John Varga
Journal:  Curr Rheumatol Rep       Date:  2015-01       Impact factor: 4.592

Review 6.  Genetics, Epigenetics, and Genomics of Systemic Sclerosis.

Authors:  Gloria Salazar; Maureen D Mayes
Journal:  Rheum Dis Clin North Am       Date:  2015-05-20       Impact factor: 2.670

Review 7.  Gene expression profiling offers insights into the role of innate immune signaling in SSc.

Authors:  Michael E Johnson; Patricia A Pioli; Michael L Whitfield
Journal:  Semin Immunopathol       Date:  2015-07-30       Impact factor: 9.623

8.  Influence of TYK2 in systemic sclerosis susceptibility: a new locus in the IL-12 pathway.

Authors:  Elena López-Isac; Diana Campillo-Davo; Lara Bossini-Castillo; Sandra G Guerra; Shervin Assassi; Carmen Pilar Simeón; Patricia Carreira; Norberto Ortego-Centeno; Paloma García de la Peña; Lorenzo Beretta; Alessandro Santaniello; Chiara Bellocchi; Claudio Lunardi; Gianluca Moroncini; Armando Gabrielli; Gabriela Riemekasten; Torsten Witte; Nicolas Hunzelmann; Alexander Kreuter; Jörg Hw Distler; Alexandre E Voskuyl; Jeska de Vries-Bouwstra; Ariane Herrick; Jane Worthington; Christopher P Denton; Carmen Fonseca; Timothy Rdj Radstake; Maureen D Mayes; Javier Martín
Journal:  Ann Rheum Dis       Date:  2015-09-02       Impact factor: 19.103

Review 9.  Management of Systemic-Sclerosis-Associated Interstitial Lung Disease.

Authors:  Katherine Culp Silver; Richard M Silver
Journal:  Rheum Dis Clin North Am       Date:  2015-05-23       Impact factor: 2.670

Review 10.  Review: interstitial lung disease associated with systemic sclerosis and idiopathic pulmonary fibrosis: how similar and distinct?

Authors:  Erica L Herzog; Aditi Mathur; Andrew M Tager; Carol Feghali-Bostwick; Frank Schneider; John Varga
Journal:  Arthritis Rheumatol       Date:  2014-08       Impact factor: 10.995
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