Literature DB >> 26210123

Genetics, Epigenetics, and Genomics of Systemic Sclerosis.

Gloria Salazar1, Maureen D Mayes2.   

Abstract

Systemic sclerosis (SSc) is a complex autoimmune disease that occurs in a genetically susceptible host. Genetic studies performed so far reveal that multiple genetic loci contribute to disease susceptibility in SSc. The purpose of this review is to discuss the current knowledge of genetics in SSc by exploring the observational evidence, the different genetic studies, and their modalities as well as the most relevant genes discovered by these. The importance of gene expression variation and the different mechanisms that govern it, including the recently discovered field of epigenetics, are also explored, with an emphasis on microRNA.
Copyright © 2015 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Epigenetics; Gene expression; Genetics; Scleroderma; Splicing; Systemic sclerosis; miRNA; microRNA

Mesh:

Substances:

Year:  2015        PMID: 26210123      PMCID: PMC4515564          DOI: 10.1016/j.rdc.2015.04.001

Source DB:  PubMed          Journal:  Rheum Dis Clin North Am        ISSN: 0889-857X            Impact factor:   2.670


  103 in total

Review 1.  Genetic factors in the etiology of systemic sclerosis and Raynaud phenomenon.

Authors:  F K Tan; F C Arnett
Journal:  Curr Opin Rheumatol       Date:  2000-11       Impact factor: 5.006

2.  A GWAS follow-up study reveals the association of the IL12RB2 gene with systemic sclerosis in Caucasian populations.

Authors:  Lara Bossini-Castillo; Jose-Ezequiel Martin; Jasper Broen; Olga Gorlova; Carmen P Simeón; Lorenzo Beretta; Madelon C Vonk; Jose Luis Callejas; Ivan Castellví; Patricia Carreira; Francisco José García-Hernández; Mónica Fernández Castro; Marieke J H Coenen; Gabriela Riemekasten; Torsten Witte; Nicolas Hunzelmann; Alexander Kreuter; Jörg H W Distler; Bobby P Koeleman; Alexandre E Voskuyl; Annemie J Schuerwegh; Øyvind Palm; Roger Hesselstrand; Annika Nordin; Paolo Airó; Claudio Lunardi; Raffaella Scorza; Paul Shiels; Jacob M van Laar; Ariane Herrick; Jane Worthington; Christopher Denton; Filemon K Tan; Frank C Arnett; Sandeep K Agarwal; Shervin Assassi; Carmen Fonseca; Maureen D Mayes; Timothy R D J Radstake; Javier Martin
Journal:  Hum Mol Genet       Date:  2011-11-10       Impact factor: 6.150

3.  Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.

Authors:  Lucia A Hindorff; Praveen Sethupathy; Heather A Junkins; Erin M Ramos; Jayashri P Mehta; Francis S Collins; Teri A Manolio
Journal:  Proc Natl Acad Sci U S A       Date:  2009-05-27       Impact factor: 11.205

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

Review 6.  The genetics of systemic sclerosis.

Authors:  Sandeep K Agarwal
Journal:  Discov Med       Date:  2010-08       Impact factor: 2.970

7.  Analysis of the 5' flanking region of the interleukin 10 gene in patients with systemic sclerosis.

Authors:  A Crilly; J Hamilton; C J Clark; A Jardine; R Madhok
Journal:  Rheumatology (Oxford)       Date:  2003-07-16       Impact factor: 7.580

8.  STAT4 is a genetic risk factor for systemic sclerosis having additive effects with IRF5 on disease susceptibility and related pulmonary fibrosis.

Authors:  P Dieudé; M Guedj; J Wipff; B Ruiz; E Hachulla; E Diot; B Granel; J Sibilia; K Tiev; L Mouthon; J L Cracowski; P H Carpentier; Z Amoura; I Fajardy; J Avouac; O Meyer; A Kahan; C Boileau; Y Allanore
Journal:  Arthritis Rheum       Date:  2009-08

Review 9.  What does global gene expression profiling tell us about the pathogenesis of systemic sclerosis?

Authors:  Shervin Assassi; Maureen D Mayes
Journal:  Curr Opin Rheumatol       Date:  2013-11       Impact factor: 5.006

Review 10.  The role of type 1 interferon in systemic sclerosis.

Authors:  Minghua Wu; Shervin Assassi
Journal:  Front Immunol       Date:  2013-09-06       Impact factor: 7.561

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  11 in total

Review 1.  Epigenetic Control of Scleroderma: Current Knowledge and Future Perspectives.

Authors:  Pei-Suen Tsou
Journal:  Curr Rheumatol Rep       Date:  2019-12-07       Impact factor: 4.592

Review 2.  Genetics of systemic sclerosis.

Authors:  Yuki Ishikawa; Chikashi Terao
Journal:  J Scleroderma Relat Disord       Date:  2020-04-19

Review 3.  Fresh Insights into Disease Etiology and the Role of Microbial Pathogens.

Authors:  Antonella Farina; G Alessandra Farina
Journal:  Curr Rheumatol Rep       Date:  2016-01       Impact factor: 4.592

4.  Treatment of Rapidly Progressive Systemic Sclerosis: Current and Futures Perspectives.

Authors:  Fabian A Mendoza; Maryah Mansoor; Sergio A Jimenez
Journal:  Expert Opin Orphan Drugs       Date:  2015-11-23       Impact factor: 0.694

Review 5.  The contribution of epigenetics to the pathogenesis and gender dimorphism of systemic sclerosis: a comprehensive overview.

Authors:  Bianca Saveria Fioretto; Irene Rosa; Eloisa Romano; Yukai Wang; Serena Guiducci; Guohong Zhang; Mirko Manetti; Marco Matucci-Cerinic
Journal:  Ther Adv Musculoskelet Dis       Date:  2020-05-06       Impact factor: 5.346

Review 6.  Idiopathic pulmonary fibrosis and systemic sclerosis: pathogenic mechanisms and therapeutic interventions.

Authors:  Hamid Mattoo; Shiv Pillai
Journal:  Cell Mol Life Sci       Date:  2021-06-18       Impact factor: 9.261

Review 7.  Current perspectives on the immunopathogenesis of systemic sclerosis.

Authors:  Patrizia Fuschiotti
Journal:  Immunotargets Ther       Date:  2016-04-11

8.  Paraneoplastic systemic sclerosis associated with colorectal carcinoma.

Authors:  Dominik Samotij; Joanna Maj; Adam Reich
Journal:  Reumatologia       Date:  2018-06-30

9.  Screening and identification of biomarkers for systemic sclerosis via microarray technology.

Authors:  Chen Xu; Ling-Bing Meng; Yu-Chen Duan; Yong-Jing Cheng; Chun-Mei Zhang; Xing Zhou; Ci-Bo Huang
Journal:  Int J Mol Med       Date:  2019-09-05       Impact factor: 4.101

Review 10.  Non-Coding RNA in Systemic Sclerosis: A Valuable Tool for Translational and Personalized Medicine.

Authors:  Marta Rusek; Dorota Krasowska
Journal:  Genes (Basel)       Date:  2021-08-24       Impact factor: 4.096

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