title: Toll-like receptor 6 gene (TLR6): single-nucleotide polymorphism frequencies and preliminary association with the diagnosis of asthma.
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.
authors.affiliation: Channing Laboratory, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA. rekgt@channing.harvard.edu
authors.forename: K
authors.initials: K
authors.lastname: Tantisira
authors.forename: W T
authors.initials: WT
authors.lastname: Klimecki
authors.forename: R
authors.initials: R
authors.lastname: Lazarus
authors.forename: L J
authors.initials: LJ
authors.lastname: Palmer
authors.forename: B A
authors.initials: BA
authors.lastname: Raby
authors.forename: D J
authors.initials: DJ
authors.lastname: Kwiatkowski
authors.forename: E
authors.initials: E
authors.lastname: Silverman
authors.forename: D
authors.initials: D
authors.lastname: Vercelli
authors.forename: F D
authors.initials: FD
authors.lastname: Martinez
authors.forename: S T
authors.initials: ST
authors.lastname: Weiss
mesh_terms: D001249:Asthma / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011956:Receptors, Cell Surface / Q000235:genetics*; D051216:Toll-Like Receptor 6
chemical_list: D008562:Membrane Glycoproteins; D011956:Receptors, Cell Surface; C495368:TLR6 protein, human; D051216:Toll-Like Receptor 6