LongevityMap variant
- Longevity Association
- Significant
- Population
- Italian
- Study Design
- ASP299GLY polymorphism was examined in 105 young Sicilian men (mean age, 41 years; range, 20-46 years) with acute myocardial infarction, 127 men matched by age strata (mean age, 38 years; range, 20-50 years) and 55 Sicilian oldest old men (mean age, 100 years; range, 96-104 years)
- Conclusions
- ASP299GLY polymorphism shows a significantly lower frequency in patients affected by myocardial infarction compared to controls, whereas centenarians show a higher frequency
- HGNC symbol
- TLR4
- Aliases
- TOLL; CD284; TLR-4; ARMD10
- Common name
- toll like receptor 4
- Description
- 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 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 has been implicated in signal transduction events induced by lipopolysaccharide (LPS) found in most gram-negative bacteria. Mutations in this gene have been associated with differences in LPS responsiveness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
- Other longevity studies of this gene
- 1
- OMIM
- 603030
- Ensembl
- ENSG00000136869
- UniProt/Swiss-Prot
- TLR4_HUMAN
- Entrez Gene
- 7099
- UniGene
- 174312
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- tlr4bb
- Mus musculus
- Tlr4
- Rattus norvegicus
- Tlr4
Balistreri et al. (2004)
Other variants which are also part of this study
