Toll-like receptors and human disease: Lessons from single nucleotide polymorphisms

Yi Tzu Lin, Amanda Verma, Conrad P. Hodgkinson

Research output: Contribution to journalReview articlepeer-review

56 Scopus citations


Toll-like receptors (TLRs), a large group of proteins which recognize various pathogen-associated molecular patterns, are critical for the normal function of the innate immune system. Following their discovery many single nucleotide polymorphisms within TLRs and components of their signaling machinery have been discovered and subsequently implicated in a wide range of human diseases including atherosclerosis, sepsis, asthma, and immunodeficiency. This review discusses the effect of genetic variation on TLR function and how they may precipitate disease.

Original languageEnglish
Pages (from-to)633-645
Number of pages13
JournalCurrent Genomics
Issue number8
StatePublished - 2012


  • Atherosclerosis
  • Genetic association studies
  • Inflammation
  • Innate immunity
  • Single nucleotide polymorphisms
  • Toll-like receptors


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