LongevityMap variant group

Entry Details

Longevity Association
Significant
Population
Danish
Study Design
Two SNPs (rs121918095 (R104H), rs28933981 (T119M)) were examined in 68,602 individuals during a mean follow-up of 32 years.
Conclusions
Only T119M heterozygotes were found in the population. R104H was not detected. The heterozygotes had decreased risk of cerebrovascular disease and increased life expectancy in the general population comparing to the noncarriers.

Variants (2)

1.
Identifier
rs121918095
Cytogenetic Location
18q12.1
UCSC Genome Browser
View 18q12.1 on the UCSC genome browser
2.
Identifier
rs28933981
Cytogenetic Location
18q12.1
UCSC Genome Browser
View 18q12.1 on the UCSC genome browser

Gene details

HGNC symbol
TTR
Aliases
CTS; CTS1; PALB; TBPA; HEL111; HsT2651 
Common name
transthyretin 
Description
This gene encodes transthyretin, one of the three prealbumins including alpha-1-antitrypsin, transthyretin and orosomucoid. Transthyretin is a carrier protein; it transports thyroid hormones in the plasma and cerebrospinal fluid, and also transports retinol (vitamin A) in the plasma. The protein consists of a tetramer of identical subunits. More than 80 different mutations in this gene have been reported; most mutations are related to amyloid deposition, affecting predominantly peripheral nerve and/or the heart, and a small portion of the gene mutations is non-amyloidogenic. The diseases caused by mutations include amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis, carpal tunnel syndrome, etc. [provided by RefSeq, Jan 2009]
Other longevity studies of this gene
1
OMIM
176300
Ensembl
ENSG00000118271
UniProt/Swiss-Prot
E9KL36_HUMAN
Entrez Gene
7276
UniGene
427202
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
ZK697.8
Danio rerio
ttr
Drosophila melanogaster
CG30016
Mus musculus
Ttr
Rattus norvegicus
Ttr
Schizosaccharomyces pombe
SPCC285.04

References

Hornstrup et al. (2013)

Other variants which are also part of this study