Transforming growth factor-12 polymorphism and systemic lupus erythematosus.
OBJECTIVE
To determine whether transforming growth factor-beta2 (TGF-beta2) gene polymorphism is associated with systemic lupus erythematosus (SLE) susceptibility. TGF-beta 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-beta2 is considered to be a candidate SLE susceptibility gene. Furthermore, SLE has been linked with a region to which the TGF-beta2 gene has been mapped.


METHODS
Association studies were performed in 3 case-control populations, from Spain. Turkey, and UK, using a TGF-beta2 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-beta2 5'-UTR polymorphism allele frequencies between SLE patients and matched controls in the 3 populations studied.


CONCLUSIONS
The 4 bp insertion polymorphism within the TGF-beta2 gene does not appear to be associated with SLE. However, this does not rule out the possible involvement of TGF-beta2 in the disease pathogenesis.
Alansari
Aliya
A
ARC Epidemiology Unit, Manchester University Medical School, UK.
Hajeer
Ali
A
Teh
Lee-Suan
LS
Bayat
Ardeshir
A
Mysercough
Anne
A
Gül
Ahmet
A
Inanc
Murat
M
Ordi-Ros
Jose
J
Ollier
William
W
D000483:Alleles; D001483:Base Sequence; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D015331:Cohort Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011336:Probability; D012016:Reference Values; D012680:Sensitivity and Specificity; D013030:Spain; D016212:Transforming Growth Factor beta / Q000235:genetics*; D053781:Transforming Growth Factor beta2; D014421:Turkey; D006113:United Kingdom
C509041:TGFB2 protein, human; D016212:Transforming Growth Factor beta; D053781:Transforming Growth Factor beta2