Abstract
Toll-like receptor 6 (TLR6) is one of a series of highly conserved innate immune receptors. We resequenced TLR6 in DNA samples from 24 African Americans, 23 European Americans, and 24 Hispanic Americans, identifying 53 SNPs, 22 with an allele frequency >5%. Significant differences in SNP frequencies among the three populations were noted. In all, 11 SNPs caused amino-acid changes, including one with a frequency >5% in all three populations. Utilizing this SNP (Ser249Pro), we performed exploratory nested case–control disease-association studies, including one involving 56 African Americans with asthma and 93 African American controls. The minor allele of this SNP was associated with decreased risk for asthma (odds ratio 0.38, 95% CI 0.16–0.87, P=0.01), an effect consistent with the known biology of the toll-like receptors. Although replication of this finding in other, larger samples is needed, variation in TLR6 may have relevance to the pathogenesis of immunologically mediated diseases.
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This work was supported by the Program for Genomic Applications, NIH R01: HL66795, Innate Immunity in Heart, Lung and Blood Disease, from the National Heart and Blood Institute, and by NIH 2T32: HL07427-21, The Clinical Epidemiology of Lung Diseases.
Supplementary Information accompanies the paper on Genes and Immunity's website (http://www.nature.com/gene).
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Web Table A
Flanking Sequences of Identified TLR6 SNPs
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Tantisira, K., Klimecki, W., Lazarus, R. et al. Toll-like receptor 6 gene (TLR6): single-nucleotide polymorphism frequencies and preliminary association with the diagnosis of asthma. Genes Immun 5, 343–346 (2004). https://doi.org/10.1038/sj.gene.6364096
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DOI: https://doi.org/10.1038/sj.gene.6364096
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