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PON1

From SNPedia

is agene
is mentioned by
Full nameparaoxonase 1
EntrezGene5444
PheGenI5444
VariationViewer5444
ClinVarPON1
GeneCardsPON1
dbSNP5444
SADR5444
HugeNav5444
wikipediaPON1
googlePON1
gopubmedPON1
EVSPON1
HEFalMpPON1
MyGene2PON1
23andMePON1
UniProtP27169
EnsemblENSG00000005421
OMIM168820
# SNPs13
 Max MagnitudeChromosome positionSummary
rs205768195,308,945
rs373559095,298,183
rs391748195,321,453
rs391755095,305,261
rs6622.395,308,134
rs70537995,324,583
rs70538195,324,637
rs70538295,325,909
rs85455595,301,079
rs854560295,316,772
rs85456395,318,697
rs85457195,325,307
rs85457295,325,384

Variations in the PON1, the paraoxonase 1 gene, have been linked to several medical conditions. Paraoxonases are esterases, a complex family of enzymes involved in breaking down chemicals including several types of pesticides and pharmaceutical drugs, and also involved in protecting both high- and low-density lipoproteins from oxidation. Individuals with less paraoxonase activity appear to be more susceptible to Heart disease, pesticide poisoning, atherosclerosis and Diabetes.

The variation most intensively studied is rs662, which has been linked to Heart disease.

A second variation linked to cardiovascular disease, involving the potential of increased insulin resistance, is rs854560. This variation may be primarily a marker of a commonly co-inherited variation at the nearby "-108C/T" site, rs705379, located in the promoter of the paraoxonase gene [PMID 11335891].