Haplotype structure and positive selection at TLR1

摘要: Toll-like receptor 1, when dimerized with 2, is a cell surface that, upon recognition of bacterial lipoproteins, activates the innate immune system. Variants in TLR1 associate risk variety medical conditions and diseases, including sepsis, leprosy, tuberculosis, others. The foremost these rs5743618 c.2079T>G(p.(Ile602Ser)), derived allele which associated reduced other diseases. Interestingly, 602Ser, shows signatures selection, inhibits trafficking subsequent activation NFκB ligand. This suggests that activity may be beneficial for human health. To better understand variation its link to health, we have typed all 7 high-frequency missense variants (>5% at least one population) along 17 around 2548 individuals from 56 populations globe. We also found additional selection on not rs5743618, suggesting there multiple functional alleles under positive this gene.