LongevityMap variant group

Entry Details

Longevity Association: Significant
Population: Chinese (Han)
Study Design: 482 healthy individuals (246 subjects (60 to 91 years old, 71.2 ± 7.1 years; 49.2% male); 236 controls (35 to 59 years old, mean ± SD: 47.3 ± 7.2 years; 45.3% male)) were examined for the association of SIRT1 polymorphisms with healthy aging
Conclusions: rs3758391/C and rs4746720/C were more common in case group. Genotype distributions and allele frequencies showed no differences in different genders. The haplotype CC of rs3758391 and rs4746720 was significantly higher in the case group compared to the young control group. The polymorphisms of SIRT1 was associated with healthy aging.

HGNC symbol: SIRT1
Aliases: SIR2; SIR2L1; SIR2alpha
Common name: sirtuin 1
Description: This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]
Other longevity studies of this gene: 33
OMIM: 604479
Ensembl: ENSG00000096717
UniProt/Swiss-Prot: A0A024QZQ1_HUMAN
Entrez Gene: 23411
UniGene: 369779
HapMap: View on HapMap

GenAge model organism genes

GenAge human genes

GenDR gene manipulations

CellAge

Zhang et al. (2010)