rs3764880 is a SNP in the TLR8 gene, located on the X chromosome. rs3764880 is also known as Met1Val.

A study of both Indonesian and Russian tuberculosis patients (and controls) concluded that the minor (A) allele of rs3764880 was associated with increased risk for tuberculosis. In the Indonesian population of 375 patients, the odds ratio was 1.8 (CI: 1.2–2.7); in the Russian population of 1,837 patients, the odds ratio was 1.2 (CI: 1.02–1.48); the combined evidence for association was p = 1.2×10e?3 – 6×10e?4. Note that the association was found primarily in males (although also to a lesser extent in homozygous females), presumably due to the presence of only one X chromosome in males. [PMID 18927625]

[PMID 20652908] Genetic modulation of TLR8 response following bacterial phagocytosis

[PMID 18605904] A functional toll-like receptor 8 variant is associated with HIV disease restriction.

[PMID 18985439] Toll-like receptor 8 polymorphism and coronary artery disease.

[PMID 19450131] Application of pharmacogenomics to vaccines.

[PMID 19505919] Toll-like receptor signaling pathway variants and prostate cancer mortality.

[PMID 20041166] Common genetic variation and the control of HIV-1 in humans.

[PMID 21872627] Association of polymorphisms in TLR genes and in genes of the Toll-like receptor signaling pathway with cancer risk.

[PMID 22065095] TLR7/8/9 polymorphisms and their associations in systemic lupus erythematosus patients from southern Brazil.


Parent Gene: TLR8

Importance: 1
Less common allele: G = 46%
More common allele: A = 54%
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