title: Transforming growth factor-{beta} gene polymorphisms in different phenotypes of sarcoidosis.
abstract: The aetiology of sarcoidosis is unclear. Single nucleotide polymorphisms (SNPs) in transforming growth factor (TGF)-β2 and -β3 have been reported to be associated with the development of lung fibrosis in patients with sarcoidosis. SNPs in TGF-β2 (rs1891467) and TGF-β3 (rs3917200) were investigated in 296 patients with sarcoidosis (acute/self remitting, n = 70 (including 62 patients with Löfgren's syndrome); chronic, n = 168; acute/chronic, n = 58) by real-time PCR. 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 TGF-β2 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 TGF-β3 (rs3917200) and lung fibrosis (p = 0.050). Carriers of the G-allele in rs1891467 might be protected from 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 TGF-β2 as a protective factor in the course of sarcoidosis.
authors.affiliation: Dept of Internal Medicine II, Division of Pneumology, University of Bonn, Sigmund-Freud-Str. 25, D-53105 Bonn, Germany. stefan.pabst@ukb.uni-bonn.de
authors.forename: S
authors.initials: S
authors.lastname: Pabst
authors.forename: T
authors.initials: T
authors.lastname: Fränken
authors.forename: J
authors.initials: J
authors.lastname: Schönau
authors.forename: S
authors.initials: S
authors.lastname: Stier
authors.forename: G
authors.initials: G
authors.lastname: Nickenig
authors.forename: R
authors.initials: R
authors.lastname: Meyer
authors.forename: D
authors.initials: D
authors.lastname: Skowasch
authors.forename: C
authors.initials: C
authors.lastname: Grohé
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D016022:Case-Control Studies; D005260:Female; D005355:Fibrosis / Q000473:pathology; D005838:Genotype; D006801:Humans; D008168:Lung / Q000473:pathology; D008297:Male; D008875:Middle Aged; D008957:Models, Genetic; D010641:Phenotype; D011110:Polymorphism, Genetic; D060888:Real-Time Polymerase Chain Reaction / Q000379:methods; D012507:Sarcoidosis / Q000235:genetics*; D016212:Transforming Growth Factor beta / Q000235:genetics* / Q000378:metabolism
chemical_list: D016212:Transforming Growth Factor beta