Toll-like receptor (TLR) 4 Asp299Gly and Thr399Ile polymorphisms are associated with a chronic progressive course of pulmonary sarcoidosis

Pabst, Stefan; Baumgarten, Georg; Stremmel, A.; Lennarz, Martina; Knuefermann, Pascal; Gillissen, Adrian; Vetter, Hans; Grohé, C

doi:10.1055/s-2005-925493

Cited by 2 publications

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“…Although the phenotype of most forms of sarcoidosis appears to be similar, we propose that what we see are different phenotypes that are genetically determined. In our cohort, we found that a Toll-like receptor 4 polymorphism is associated with a chronic course of sarcoidosis [4]. Moreover, we were able to repeat the results of VALENTONYTE et al [5], who showed that sarcoidosis is associated with a polymorphism in butyrophilin-like-2 gene, which alters T-cell activation.…”

Section: My Research As Part Of My Working Group/ Research Teamsupporting

confidence: 75%

A stop codon polymorphism of toll-like receptor 5 is associated with a stable course of chronic obstructive lung disease

Pabst¹,

Yenice²,

Lennarz³

et al. 2006

European Respiratory Review

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WINNING ABSTRACT: The etiology of chronic obstructive lung disease (COPD) is unclear. It is supposed to be the product of an exogenous antigenic stimulus, such as tobacco smoke, and an endogenous genetic susceptibility. Toll-like receptors (TLR) are signal molecules, essential for the cellular response to bacterial cell wall components. Lipopolysaccharide (LPS) binds to TLR4 and two different polymorphisms for the TLR4 gene (Asp299Gly and Thr399Ile) have recently been described. TLR5 is the receptor for flagellin, aconstituent of Gram-positive and -negative bacterial flagella. A functional relevant TLR5 polymorphism (TLR5392STOP) has already been identified. The coactivation of both TLR4 and 5 seems to play an important role in the mediation of host-defense mechanisms. We genotyped 138 Caucasian patients with COPD and 135 healthy controls for the TLR5 polymorphism TLR5392STOP respectively for Asp299Gly and Thr399Ile polymorphisms in theTLR4gene. Among COPD patients the prevalence for the TLR5 mutant allele was 9.42% (26/276). The prevalence for each Asp299Gly and Thr399Ile mutant allele was 4.71% (13/276). In the control group the TLR5 mutation prevalence was 5.19% (14/270) (P50.138), the prevalence of each TLR4 polymorphism was 2.96% (8/270) (p50.279). In the subgroup of 54 patients with a stable course of COPD, defined as less than three hospitalizations over the last three years due to COPD, we found a significant association with the TLR5392STOP gene polymorphism (P50.026). These data suggest that the TLR5392STOP polymorphism is associated with a stable course of COPD, whereas TLR4 polymorphisms have no impact neither on the onset nor on the course of COPD.

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Section: My Research As Part Of My Working Group/ Research Teamsupporting

confidence: 75%

A stop codon polymorphism of toll-like receptor 5 is associated with a stable course of chronic obstructive lung disease

Pabst¹,

Yenice²,

Lennarz³

et al. 2006

European Respiratory Review

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“…We developed a real‐time quantitative polymerase chain reaction (qPCR) technique using a TaqMan probe for detection of deletion and duplication located in exon 1 of BTNL2 , position chr6: 32,482,880–32,482,800 (Figure 1A) and tested this initially in 89 sarcoidosis patients and 89 controls. The diagnosis was made according to the ATS/ERS/WASOG Statement on sarcoidosis as described before (7, 8). The TaqMan assay is based on amplification and quantification of BTNL2 in relation to an internal reference gene, albumin (ALB) , in a multiplex PCR using ABI PRISM 7500 (Applied Biosystems, Foster City, CA).…”

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Extended genetic analysis of BTNL2 in sarcoidosis

Li¹,

Pabst²,

Lokhande³

et al. 2008

Tissue Antigens

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Single nucleotide polymorphisms in the BTLN2 gene have been recently associated with the risk for sarcoidosis. We now aimed to study additional genetic alterations in BTLN2 as putative genetic risk. The CNV_ID 507, which was highlighted for its possible involvement in sarcoidosis because of its partly deletion of the BTNL2 gene, was tested for association in a cohort of 89 sarcoidosis patients and 89 matched controls, but our results indicated that CNV_ID 507 does not affect the genomic structure of BTLN2 as previously described. Additionally, we identified a heterozygous 1 bp deletion in exon 3, c.450delC. We genotyped 210 patients and 201 controls for c.450delC and observed similar genotype frequencies in both groups without a significant difference (P = 0.4996).

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Toll-like receptor (TLR) 4 Asp299Gly and Thr399Ile polymorphisms are associated with a chronic progressive course of pulmonary sarcoidosis

Cited by 2 publications

References 0 publications

A stop codon polymorphism of toll-like receptor 5 is associated with a stable course of chronic obstructive lung disease

A stop codon polymorphism of toll-like receptor 5 is associated with a stable course of chronic obstructive lung disease

Extended genetic analysis of BTNL2 in sarcoidosis

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