LongevityMap variant

Entry Details

Longevity Association
Significant
Population
Danish
Study Design
Two coding polymorphisms, 55M/L and 192Q/R, and a promoter variant, -107C/T, were studied in 1932 Danish individuals aged 47-93 years
Conclusions
A cross-sectional study comparing the genotype distribution of the three polymorphisms as well as the haplotype distribution in different age groups did not reveal any difference. However, a longitudinal follow-up study on survival in the same sample indicated that 192RR homozygotes have a poorer survival of coronary heart disease compared to QQ homozygotes.
Identifier
Q192R
In Other Studies (IDs)
84 122 134
Cytogenetic Location
7q21.3
UCSC Genome Browser
View 7q21.3 on the UCSC genome browser

Gene details

HGNC symbol
PON1
Aliases
ESA; PON; MVCD5 
Common name
paraoxonase 1 
Description
The enzyme encoded by this gene is an arylesterase that mainly hydrolyzes paroxon to produce p-nitrophenol. Paroxon is an organophosphorus anticholinesterase compound that is produced in vivo by oxidation of the insecticide parathion. Polymorphisms in this gene are a risk factor in coronary artery disease. The gene is found in a cluster of three related paraoxonase genes at 7q21.3. [provided by RefSeq, Oct 2008]
Other longevity studies of this gene
31
OMIM
168820
Ensembl
ENSG00000005421
UniProt/Swiss-Prot
PON1_HUMAN
Entrez Gene
5444
UniGene
370995
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Pon1
Rattus norvegicus
Pon1

In other databases

GenAge human genes
  • This gene is present as PON1

References

Christiansen et al. (2004)

Other variants which are also part of this study