Research article

Evaluation of the toll-like receptor 6 Ser249Pro polymorphism in patients with asthma, atopic dermatitis and chronic obstructive pulmonary disease

Sabine Hoffjan¹ , Susanne Stemmler¹ , Qumar Parwez² , Elisabeth Petrasch-Parwez³ , Umut Arinir⁴ , Gernot Rohde⁴ , Karin Reinitz-Rademacher⁵ , Gerhard Schultze-Werninghaus⁴ , Albrecht Bufe⁵ and Jörg T Epplen¹

¹  Department of Human Genetics, Ruhr-University Bochum, Germany

²  Private medical practice, Gladbeck, Germany

³  Department of Neuroanatomy and Molecular Brain Research, Ruhr-University Bochum, Germany

⁴  Department of Internal Medicine lll, Pneumology, Allergology and Sleep Medicine, Ruhr-University Bochum, Germany

⁵  Department of Experimental Pneumology, Ruhr-University Bochum, Germany

author email corresponding author email

BMC Medical Genetics 2005, 6:34doi:10.1186/1471-2350-6-34

Published:	28 September 2005

Abstract

Background

For allergic disorders, the increasing prevalence over the past decade has been attributed in part to the lack of microbial burden in developed countries ('hygiene hypothesis'). Variation in genes encoding toll-like receptors (TLRs) as the receptor system for the first innate immune response to microbial stimuli has been implicated in various inflammatory diseases. We evaluated here the role of a coding variation, Ser249Pro, in the TLR6 gene in the pathogenesis of asthma, atopic dermatitis (AD) and chronic obstructive pulmonary disease (COPD).

Methods

Genotyping of the Ser249Pro polymorphism in 68 unrelated adult patients and 132 unrelated children with asthma, 185 unrelated patients with COPD, 295 unrelated individuals with AD and 212 healthy control subjects was performed by restriction enzyme digestion.

Results

We found a weak association of the 249Ser allele with childhood asthma (p = 0.03). Yet, significance was lost after Bonferroni correction. No association was evident for AD or COPD.

Conclusion

Variation in TLR6 might play a role in the pathogenesis of childhood asthma.