Literature DB >> 18329530

Genetics and genomic studies in scleroderma (systemic sclerosis).

Sandeep K Agarwal1, Filemon K Tan, Frank C Arnett.   

Abstract

It currently is believed that scleroderma is a complex polygenic disease that occurs in genetically predisposed individuals who have encountered specific environment exposures and/or other stochastic factors. The nature of these genetic determinants and how they interact with environmental factors are areas of active investigation. This article discusses the evidence that supports a strong genetic link to scleroderma. These studies implicate potential pathogenetic mechanisms involved in scleroderma, which, it is hoped, may translate into clinical utility, including determination of disease risk, diagnosis, prognosis, and novel therapeutics.

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Year:  2008        PMID： 18329530     DOI： 10.1016/j.rdc.2007.10.001

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


  26 in total

1.  Heritability of vasculopathy, autoimmune disease, and fibrosis in systemic sclerosis: a population-based study.

Authors:  Tracy Frech; Dinesh Khanna; Boaz Markewitz; Geraldine Mineau; Richard Pimentel; Allen Sawitzke
Journal:  Arthritis Rheum       Date:  2010-07

Review 2.  Biomarkers in the management of scleroderma: an update.

Authors:  Giuseppina Abignano; Maya Buch; Paul Emery; Francesco Del Galdo
Journal:  Curr Rheumatol Rep       Date:  2011-02       Impact factor: 4.592

Review 3.  The sex bias in systemic sclerosis: on the possible mechanisms underlying the female disease preponderance.

Authors:  Fabio D'Amico; Evangelia Skarmoutsou; Maria Clorinda Mazzarino
Journal:  Clin Rev Allergy Immunol       Date:  2014-12       Impact factor: 8.667

4.  Pulmonary Arterial Hypertension-A Deadly Complication of Systemic Sclerosis.

Authors:  Edward A Pankey; Matthew Epps; Bobby D Nossaman; Albert L Hyman; Philip J Kadowitz
Journal:  J Clin Rheumatol Musculoskelet Med       Date:  2010-12-01

5.  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

6.  Polymorphisms in TBX21 and STAT4 increase the risk of systemic sclerosis: evidence of possible gene-gene interaction and alterations in Th1/Th2 cytokines.

Authors:  Pravitt Gourh; Sandeep K Agarwal; Dipal Divecha; Shervin Assassi; Gene Paz; Rajpreet K Arora-Singh; John D Reveille; Sanjay Shete; Maureen D Mayes; Frank C Arnett; Filemon K Tan
Journal:  Arthritis Rheum       Date:  2009-12

7.  The prognostic factors of systemic sclerosis for survival among Koreans.

Authors:  Jinhyun Kim; Sue Kyung Park; Ki Won Moon; Eun Young Lee; Yun Jong Lee; Yeong Wook Song; Eun Bong Lee
Journal:  Clin Rheumatol       Date:  2009-12-03       Impact factor: 2.980

8.  A large multicentre analysis of CTGF -945 promoter polymorphism does not confirm association with systemic sclerosis susceptibility or phenotype.

Authors:  B Rueda; C Simeon; R Hesselstrand; A Herrick; J Worthington; N Ortego-Centeno; G Riemekasten; V Fonollosa; M C Vonk; F H J van den Hoogen; J Sanchez-Román; M A Aguirre-Zamorano; R García-Portales; A Pros; M T Camps; M A Gonzalez-Gay; M F Gonzalez-Escribano; M J Coenen; N Lambert; J L Nelson; T R D J Radstake; J Martin
Journal:  Ann Rheum Dis       Date:  2008-12-03       Impact factor: 19.103

9.  Novel sequence feature variant type analysis of the HLA genetic association in systemic sclerosis.

Authors:  David R Karp; Nishanth Marthandan; Steven G E Marsh; Chul Ahn; Frank C Arnett; David S Deluca; Alexander D Diehl; Raymond Dunivin; Karen Eilbeck; Michael Feolo; Paula A Guidry; Wolfgang Helmberg; Suzanna Lewis; Maureen D Mayes; Chris Mungall; Darren A Natale; Bjoern Peters; Effie Petersdorf; John D Reveille; Barry Smith; Glenys Thomson; Matthew J Waller; Richard H Scheuermann
Journal:  Hum Mol Genet       Date:  2009-11-18       Impact factor: 6.150

Review 10.  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
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