LongevityMap Gene

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]
Cytogenetic Location
7q21.3
UCSC Genome Browser
View 7q21.3 on the UCSC genome browser
OMIM
168820
Ensembl
ENSG00000005421
UniProt/Swiss-Prot
PON1_HUMAN
Entrez Gene
5444
UniGene
370995
1000 Genomes
1000 Genomes

Homologs in model organisms

Caenorhabditis elegans
poml-4
Caenorhabditis elegans
mec-6
Caenorhabditis elegans
poml-2
Caenorhabditis elegans
poml-3
Danio rerio
pon3.2
Danio rerio
pon3.2
Danio rerio
pon2
Danio rerio
pon1
Mus musculus
Pon1
Rattus norvegicus
Pon1

In other databases

GenAge human genes
  • This gene is present as PON1

Studies (7)

Significant/Non-significant: 5/2

Study 1

Longevity Association
Significant
Population
Italian
Study Design
A Leucine (L allele) to Methionine (M allele) substitution at codon 55, and a Glutamine (A allele) to Arginine (B allele) substitution at codon 192 were examined in 579 people aged 20 to 65 years old, and in 308 centenarians
Conclusions
Significant differences between young people and centenarians were observed. The percentage of carriers of the B allele at codon 192 is higher in centenarians than in controls (0.539 vs 0.447), though this was due to an increase of people carrying M alleles at codon 55.
Indentifier
Q192R
Reference

    Study 2

    Longevity Association
    Significant
    Population
    French
    Study Design
    Polymorphism at codon 192 (Gln/Arg) was examined in 256 healthy Caucasian men (69.8 +/- 4.0 years)
    Conclusions
    Gln homozygotes are more frequent in aging than Arg allele carriers
    Indentifier
    Q192R
    Reference

      Study 3

      Longevity Association
      Significant
      Population
      Italian and N. Irish
      Study Design
      PON1 55 (L/M) and 192 (Q/R) polymorphisms were studied in 308 Italian centenarians and 579 adult controls and 296 Irish octo/nonagenarians and 296 young controls
      Conclusions
      There was a significant difference in 192 genotypes in Italian centenarians compared to younger controls and a similar but non-significant trend between octo/nonagenarian and young subjects in Ireland. Distribution of the 55 (L/M) polymorphism frequencies were similar in both groups.
      Indentifier
      Q192R
      Reference

        Study 4

        Longevity Association
        Significant
        Population
        Italian (Sicily)
        Study Design
        The promoter T(-107)C and coding region Gln192Arg (Q192R) and Leu55Met (L55M) polymorphisms were examined in 100 healthy octogenarians and 200 adults
        Conclusions
        Octagenerians displayed significant higher levels of PON1 activity and had an higher percentage of (-107)CC compared with controls. No difference in the L55M and Q192R genotypes distribution was found in both groups.
        Indentifier
        -107T/C
        Reference

          Study 5

          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.
          Indentifier
          Q192R
          Reference

            Study 6

            Longevity Association
            Non-significant
            Population
            Italian (Southern)
            Study Design
            A two-stage case-control study was performed to identify the association between longevity and variation of in homeostasis regulation pathway genes. 317 SNPs in 104 genes were analyzed in 78 cases (≥90 years, median age 98 years, 42 females) and 71 controls (<90 years, median age 67 years, 32 females) in stage 1. Then, 31 candidate SNPs identified in stage 1 (π markers = 0.1) were analyzed in an independent sample composed by 288 cases (≥90 years, median age 92 years, 163 females) and 554 controls (<90 years, median age 67 years, 277 females).
            Conclusions
            After adjustment for multiple testing, no significant association was identified between various SNPs and longevity.
            Indentifier
            rs1157745
            Reference

              Study 7

              Longevity Association
              Non-significant
              Population
              Danish
              Study Design
              38 genes (311 SNPs) belonging to pro-antioxidant pathways were investigated for the association with physical and cognitive performances in a Cohort of 1089 Danish nonagenarians. For each gene analyzed in the pro-antioxidant pathway, the influence on longitudinal survival was tested.
              Conclusions
              No gene found associated with a functional phenotype showed a corresponding association with survival in the whole cohort. NDUFS1, TXNRD1, SOD2 and UCP3 were found significantly associated with lifespan in the female cohort. No association with survival was reported in males for genes belonging to the pro-oxidant pathway here analyzed.
              Indentifier
              rs17166818
              Reference