LongevityMap variant

Entry Details

Longevity Association
Significant
Population
Danish
Study Design
SNPs rs4880 in MnSOD and rs1050450 in GPX1 were genotyped in 1650 individuals from the Danish 1905 cohort (follow-up time: 1998–2008, age at intake: 92–93 years, number of deaths: 1589 (96.3%)) and investigated for the association with aging and longevity
Conclusions
Decreased mortality of individuals holding either the MnSOD rs4880 C or the GPX1 rs1050450 T alleles (HR (MnSOD(CC/CT)) = 0.91, p = 0.002), HR (GPX1(TT/TC)) = 0.93, p = 0.008)) was observed, as well as a synergetic effect (HR = 0.76, p = 0.001). Genetic variation in MnSOD and GPX1 may be associated with aging and longevity.
Identifier
rs1050450
Cytogenetic Location
3p21.31
UCSC Genome Browser
View 3p21.31 on the UCSC genome browser

Gene details

HGNC symbol
GPX1
Aliases
GPXD; GSHPX1 
Common name
glutathione peroxidase 1 
Description
The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of organic hydroperoxides and hydrogen peroxide (H2O2) by glutathione, and thereby protect cells against oxidative damage. Other studies indicate that H2O2 is also essential for growth-factor mediated signal transduction, mitochondrial function, and maintenance of thiol redox-balance; therefore, by limiting H2O2 accumulation, glutathione peroxidases are also involved in modulating these processes. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme is the most abundant, is ubiquitously expressed and localized in the cytoplasm, and whose preferred substrate is hydrogen peroxide. It is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. This gene contains an in-frame GCG trinucleotide repeat in the coding region, and three alleles with 4, 5 or 6 repeats have been found in the human population. The allele with 4 GCG repeats has been significantly associated with breast cancer risk in premenopausal women. Alternatively spliced transcript variants and multiple pseudogenes of this gene have been identified. [provided by RefSeq, Jul 2016]
Other longevity studies of this gene
1
OMIM
138320
Ensembl
ENSG00000233276
UniProt/Swiss-Prot
GPX1_HUMAN
Entrez Gene
2876
UniGene
76686
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
gpx-4
Danio rerio
gpx1b
Mus musculus
Gpx1
Rattus norvegicus
Gpx1

In other databases

GenAge human genes
  • This gene is present as GPX1

References

Soerensen et al. (2009)

Other variants which are also part of this study