LongevityMap variant

Entry Details

Longevity Association
Significant
Population
Danish
Study Design
Alleles in candidate pathways (GH/IGF1 signaling, DNA damage signaling and repair and pro/antioxidants) were investigated for association with longevity in 1089 oldest-old (age 92-93) and 736 middle-aged Danes
Conclusions
Eleven SNPs (in GSR, KL, GHRHR, INS, GHSR, IGF2R, RAD52, WRN, RAD23B, POLB and NTLH1) were associated with longevity after correction for multiple hypothesis testing. No replications were observed in German and Dutch populations.
Identifier
rs1002149
In Other Studies (IDs)
3148
Cytogenetic Location
8p12
UCSC Genome Browser
View 8p12 on the UCSC genome browser

Gene details

HGNC symbol
GSR
Aliases
HEL-75; HEL-S-122m 
Common name
glutathione-disulfide reductase 
Description
This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. This enzyme is a homodimeric flavoprotein. It is a central enzyme of cellular antioxidant defense, and reduces oxidized glutathione disulfide (GSSG) to the sulfhydryl form GSH, which is an important cellular antioxidant. Rare mutations in this gene result in hereditary glutathione reductase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2010]
Other longevity studies of this gene
8
OMIM
138300
Ensembl
ENSG00000104687
UniProt/Swiss-Prot
GSHR_HUMAN
Entrez Gene
2936
UniGene
271510
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
gsr-1
Danio rerio
gsr
Mus musculus
Gsr
Rattus norvegicus
Gsr
Saccharomyces cerevisiae
GLR1
Schizosaccharomyces pombe
pgr1

In other databases

GenAge human genes
  • This gene is present as GSR

References

Soerensen et al. (2012)

Other variants which are also part of this study