Association of functional (GA)n microsatellite polymorphism in the FLI1 gene with susceptibility to human systemic sclerosis.

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Abstract

Susceptibility genes that can account for characteristic features of SSc such as fibrosis, vasculopathy and autoimmunity remain to be determined. In mice, deficiency of Friend leukaemia integration 1 transcription factor (Fli1) causes SSc-like disease with these features. The human FLI1 gene contains (GA)n microsatellite, which has been shown to be associated with expression level. Because microsatellite polymorphisms are difficult to capture by genome-wide association studies, we directly genotyped FLI1 (GA)n microsatellite and examined its association with SSc.

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Journal

Journal ID (iso-abbrev): Rheumatology (Oxford)

Title: Rheumatology (Oxford, England)

Publisher: Oxford University Press (OUP)

ISSN (Electronic): 1462-0332

ISSN (Print): 1462-0324

Publication date (Electronic): Nov 01 2020

Volume: 59

Issue: 11

Affiliations

[1 ] Molecular and Genetic Epidemiology Laboratory, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.

[2 ] Doctoral Program in Biomedical Sciences, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Japan.

[3 ] Department of Laboratory Medicine, Hamamatsu University School of Medicine, Hamamatsu, Japan.

[4 ] Department of Dermatology, Kanazawa University, Kanazawa, Japan.

[5 ] Clinical Research Center for Allergy and Rheumatology, National Hospital Organization Sagamihara Hospital, Sagamihara, Japan.

[6 ] Department of Rheumatology, National Hospital Organization Tokyo National Hospital, Kiyose, Japan.

[7 ] Department of Internal Medicine, University of Tsukuba, Tsukuba, Japan.

[8 ] Department of Dermatology, University of Tsukuba, Tsukuba, Japan.

[9 ] Department of Rheumatology, Yokohama Minami Kyosai Hospital, Yokohama, Japan.

[10 ] Department of Rheumatology, Tokyo Metropolitan Tama Medical Center, Fuchu, Japan.

[11 ] Department of Internal Medicine, National Hospital Organization Nagoya Medical Center, Nagoya, Japan.

[12 ] Department of Rheumatology and Infectious Diseases, Kitasato University School of Medicine, Sagamihara, Japan.

[13 ] Department of Rheumatology, National Hospital Organization Himeji Medical Center, Himeji, Japan.

[14 ] Department of Rheumatology, National Hospital Organization Morioka Medical Center, Morioka, Japan.

[15 ] Department of Internal Medicine and Rheumatology, Clinical Research Institute, National Hospital Organization Kyushu Medical Center, Fukuoka, Japan.

[16 ] Allergy and Immunological Diseases, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan.

[17 ] Department of Rheumatology, Fukushima Medical University School of Medicine, Fukushima, Japan.

[18 ] Department of Dermatology, University of Fukui, Fukui, Japan.

[19 ] Department of Dermatology, University of Tokyo, Tokyo, Japan.

[20 ] Department of Rheumatology, Tokyo Women's Medical University School of Medicine, Tokyo, Japan.

Article

Publisher Item ID: 5874629

DOI: 10.1093/rheumatology/keaa306

PubMed ID: 32696043

SO-VID: d1a69822-394f-4783-a09e-74f3525afd2a

Copyright © © The Author(s) 2020. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For permissions, please email: journals.permissions@oup.com.

History

Keywords: Fli1,fibrosis,genetics,microsatellite,polymorphism,systemic sclerosis,transcription factor

Data availability:

Keywords: Fli1, fibrosis, genetics, microsatellite, polymorphism, systemic sclerosis, transcription factor

Association of functional (GA)n microsatellite polymorphism in the FLI1 gene with susceptibility to human systemic sclerosis.

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