rs1039559

This variant is located in the TLR6 gene.

Research that mentions this SNP (1)

Variation in innate immunity genes and risk of multiple myeloma
AssociationN=578Purdue MP et al.(2011)· Hematological Oncology

A case-control study investigating 1,461 tag SNPs in 149 innate immunity gene regions found that genetic variants in SERPINE1, HGF, and CCR7 were associated with multiple myeloma risk. The strongest associations were observed for SERPINE1 rs2227667 (P=2.1×10−5) and HGF rs17501108 (P=5.0×10−5), which remained significant after permutation-based correction for multiple comparisons.

Traits studied:Multiple myeloma

About TLR6

The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor functionally interacts with toll-like receptor 2 to mediate cellular response to bacterial lipoproteins. A Ser249Pro polymorphism in the extracellular domain of the encoded protein may be associated with an increased of asthma is some populations.[provided by RefSeq, Jan 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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