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Article

Haplotype structure and positive selection at TLR1.

European journal of human genetics : EJHG - 1 Apr 2014

Heffelfinger Christopher, Pakstis Andrew J, Speed William C, Clark Allison P, Haigh Eva, Fang Rixun, Furtado Mahohar R, Kidd Kenneth K, Snyder Michael P

Abstract excerpt

Toll-like receptor 1, when dimerized with Toll-like receptor 2, is a cell surface receptor that, upon recognition of bacterial lipoproteins, activates the innate immune system. Variants in TLR1 associate with the risk of a variety of medical conditions and diseases, including sepsis, leprosy, tuberculosis, and others. The foremost of these is rs5743618 c.2079T>G(p.(Ile602Ser)), the derived allele of which is...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Toll-Like Receptor 1
Share to Genetic Loci
Share to Haplotypes
Share to Linkage Disequilibrium
Share to Mutation, Missense
Share to NF-kappa B
Share to Receptors, Cell Surface
Share to Selection, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 24002163
DOI: 10.1038/ejhg.2013.194
PMCID: PMC3953919

Genes

TLR1

Variants

rs5743618

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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