LongevityMap variant

Entry Details

Longevity Association
Non-significant
Population
Finnish and Mexican
Study Design
Population studies of the 1074Leu/Phe and 1367Cys/Arg polymorphisms were undertaken to evaluate the role of WRN in atherogenesis
Conclusions
Frequencies of the 1074Leu/Phe polymorphisms revealed an age-dependent decline of 1074Phe/Phe genotype. There was a tendency for the 1074Phe allele to be associated with coronary stenosis in a gene dose-dependent manner. The 1367Arg/Arg genotype predicted a lower degree of coronary artery occlusion, when compared to the 1367Cys/Cys or 1367Cys/Arg genotypes. However, these tendencies did not achieve statistical significance.
Identifier
C1367R
In Other Studies (IDs)
32 440
Cytogenetic Location
8p12
UCSC Genome Browser
View 8p12 on the UCSC genome browser

Gene details

HGNC symbol
WRN
Aliases
RECQ3; RECQL2; RECQL3 
Common name
Werner syndrome RecQ like helicase 
Description
This gene encodes a member of the RecQ subfamily and the DEAH (Asp-Glu-Ala-His) subfamily of DNA and RNA helicases. DNA helicases are involved in many aspects of DNA metabolism, including transcription, replication, recombination, and repair. This protein contains a nuclear localization signal in the C-terminus and shows a predominant nucleolar localization. It possesses an intrinsic 3' to 5' DNA helicase activity, and is also a 3' to 5' exonuclease. Based on interactions between this protein and Ku70/80 heterodimer in DNA end processing, this protein may be involved in the repair of double strand DNA breaks. Defects in this gene are the cause of Werner syndrome, an autosomal recessive disorder characterized by premature aging. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
25
OMIM
604611
Ensembl
ENSG00000165392
UniProt/Swiss-Prot
Q59F09_HUMAN
Entrez Gene
7486
UniGene
632050
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
wrn-1
Danio rerio
wrn
Mus musculus
Wrn
Rattus norvegicus
Wrn
Saccharomyces cerevisiae
SGS1

In other databases

GenAge model organism genes
  • A homolog of this gene for Saccharomyces cerevisiae is present as SGS1
GenAge human genes
  • This gene is present as WRN
CellAge
  • This gene is present as WRN

References

Castro et al. (2000)

Other variants which are also part of this study