LongevityMap variant group

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.

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

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Castro et al. (2000)