RT Journal Article
SR Electronic
T1 Transforming Growth Factor β Gene Polymorphisms in Different Phenotypes of Sarcoidosis
JF European Respiratory Journal
JO Eur Respir J
FD European Respiratory Society
SP erj01204-2010
DO 10.1183/09031936.00120410
A1 S. Pabst
A1 T. Fränken
A1 J. Schönau
A1 S Stier
A1 G. Nickenig
A1 R. Meyer
A1 D. Skowasch
A1 C. Grohé
YR 2010
UL http://erj.ersjournals.com/content/early/2010/12/09/09031936.00120410.abstract
AB The aetiology of sarcoidosis is unclear. Single nucleotide polymorphisms (SNPs) in transforming growth factor beta (TGFβ)-2 and -3 have been reported to be associated with the development of lung fibrosis in patients with sarcoidosis.SNPs in TGFβ-2 (rs1891467) and TGFβ-3 (rs3917200) were investigated in 296 patients with sarcoidosis (acute/self remitting=70 (including 62 patients with Löfgren's syndrome), chronic n=168, acute/chronic=58) by real-time-polymerase chain reaction. 32 patients showed radiological signs of lung fibrosis. The genotype frequencies were compared among the sarcoidosis groups as well as to 377 healthy controls.We found a significant association with the G-allele in rs1891467 in TGFβ-2 and an acute/self remitting course of sarcoidosis compared to a chronic course (p=0.001). The results were even more evident for patients with Löfgren's syndrome (p<0.001). Moreover, we could demonstrate a borderline significance between TGFβ-3 (rs3917200) and lung fibrosis (p=0.050).Carriers of the G-allele in rs1891467 might be protected of developing a chronic course. Moreover, there is evidence that rs3917200 is involved in the development of lung fibrosis in sarcoidosis. This study is the first in sarcoidosis patients to suggest a genetic implication of TGFβ-2 as a protective factor in the course of sarcoidosis.