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Transforming Growth Factor-ß2 Polymorphism and Systemic Lupus Erythematosus

ALIYA ALANSARI, ALI HAJEER, LEE-SUAN TEH, ARDESHIR BAYAT, ANNE MYSERCOUGH, AHMET GÜL, MURAT INANC, JOSE ORDI-ROS, and WILLIAM OLLIER

ABSTRACT.

Objective.
To determine whether transforming growth factor-ß2 (TGF-ß2) gene polymorphism is associated with systemic lupus erythematosus (SLE) susceptibility. TGF-ß is a multifunctional family of cytokines important in tissue repair, inflammation and immunoregulation. SLE is thought to be a T cell dependent autoimmune disorder with T cell dysfunction. Due to its known suppressive effects on interleukin 2 dependent T cell growth, TGF-ß2 is considered to be a candidate SLE susceptibility gene. Furthermore, SLE has been linked with a region to which the TGF-ß2 gene has been mapped.

Methods. Association studies were performed in 3 case-control populations, from Spain, Turkey, and UK, using a TGF-ß2 5'-untranslated region (5'-UTR) 4 base pair (bp) insertion polymorphism. Genotyping was performed using fluorescent labeled polymerase chain reaction product sizing.

Results. No significant differences were detected in TGF-ß2 5'-UTR polymorphism allele frequencies between SLE patients and matched controls in the 3 populations studied.

Conclusion. The 4 bp insertion polymorphism within the TGF-ß2 gene does not appear to be associated with SLE. However, this does not rule out the possible involvement of TGF-ß2 in the disease pathogenesis. (J Rheumatol 2002;29:1189-91)

Key Indexing Terms:

SYSTEMIC LUPUS ERYTHEMATOSUS
TRANSFORMING GROWTH FACTOR ß2


From the ARC Epidemiology Unit, Manchester University Medical School, Manchester; the Department of Rheumatology, Blackburn Royal Infirmary, UK; Division of Rheumatology, Istanbul Faculty of Medicine, University of Istanbul, Istanbul, Turkey; and Systemic Diseases Research Unit, Vall d'Hebron Hospital, Barcelona, Spain.

A.S. Alansari, MSc; A.H. Hajeer, PhD, Lecturer, ARC Epidemiology Unit; L-S. Teh, MD, Blackburn Royal Infirmary; A. Bayat, MBBS, MRCS (Eng), MRC Fellow; A. Mysercough, BSc, ARC Epidemiology Unit; A. Gül, MD, Associate Professor of Rheumatology; M. Inanc, MD, Associate Professor of Rheumatology, University of Istanbul; J. Ordi, MD, PhD, Vall d'Hebron Hospital; W. Ollier, PhD, FRC Path, Professor of Immunogenetics, ARC Epidemiology Unit.

Address reprint requests to Professor W.E.R. Ollier, ARC Epidemiology Unit, Manchester University Medical School, Oxford Road, Manchester M13 9PT, UK. E-mail: Bill@fs1.ser.man.ac.uk

Submitted June 19, 2001; revision accepted November 2, 2001.




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