LongevityMap variant

Entry Details

Longevity Association
Significant
Population
Italian (Southern)
Study Design
A total of 598 subjects (293 men and 305 women, age range 64–105 years; mean ages 82.74 and 85.23 years, respectively) were analyzed for genetic variability in Uncoupling Proteins (UCPs). The set was divided into two age classes. The separation threshold for these two classes was 88 years for men and 91 years for women.
Conclusions
The genetic variability of UCP2, UCP3 and UCP4 affects the individual’s chances of surviving up to a very old age. Using the minor allele for each SNP as reference and after adjusting for BMI and sex, the dominant model for the rs660339 (UCP2) and the rs1800849 (UCP3) resulted to be significantly associated with the longevity phenotype (p = 0.001 in both cases), while the recessive model was the most likely for SNPs rs15763 (UCP3), rs9472817 (UCP4) and rs2235800 (UCP5) (p < 0.05). After adjusting for multiple testing, all the previous associations remained statistically significant, except those for rs2235800 of the UCP5 gene (p= 0.058).
Identifier
rs9472817
Cytogenetic Location
6p12.3
UCSC Genome Browser
View 6p12.3 on the UCSC genome browser

Gene details

HGNC symbol
SLC25A27
Aliases
UCP4 
Common name
solute carrier family 25 member 27 
Description
Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. Transcripts of this gene are only detected in brain tissue and are specifically modulated by various environmental conditions. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]
OMIM
613725
Ensembl
ENSG00000153291
UniProt/Swiss-Prot
B4DHR4_HUMAN
Entrez Gene
9481
UniGene
40510
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
ucp-4
Danio rerio
slc25a27
Drosophila melanogaster
Ucp4A
Mus musculus
Slc25a27
Rattus norvegicus
Slc25a27
Saccharomyces cerevisiae
DIC1

References

Rose et al. (2011)

Other variants which are also part of this study