LongevityMap variant

Entry Details

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
Identifier
Asp299Gly
In Other Studies (IDs)
231
Cytogenetic Location
9q33.1
UCSC Genome Browser
View 9q33.1 on the UCSC genome browser

Gene details

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

References

Balistreri et al. (2004)

Other variants which are also part of this study