PON1
| is a | gene |
| is | mentioned by |
| Full name | paraoxonase 1 |
| EntrezGene | 5444 |
| PheGenI | 5444 |
| VariationViewer | 5444 |
| ClinVar | PON1 |
| GeneCards | PON1 |
| dbSNP | 5444 |
| Diseases | PON1 |
| SADR | 5444 |
| HugeNav | 5444 |
| wikipedia | PON1 |
| PON1 | |
| gopubmed | PON1 |
| EVS | PON1 |
| HEFalMp | PON1 |
| MyGene2 | PON1 |
| 23andMe | PON1 |
| UniProt | P27169 |
| Ensembl | ENSG00000005421 |
| OMIM | 168820 |
| # SNPs | 15 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs2057681 | 0 | 95,308,945 | |
| rs2237583 | 0 | 95,320,865 | |
| rs3735590 | 0 | 95,298,183 | |
| rs3917481 | 0 | 95,321,453 | |
| rs3917490 | 0 | 95,319,529 | |
| rs3917550 | 0 | 95,305,261 | |
| rs662 | 2 | 95,308,134 | |
| rs705379 | 0 | 95,324,583 | |
| rs705381 | 0 | 95,324,637 | |
| rs705382 | 0 | 95,325,909 | |
| rs854555 | 0 | 95,301,079 | |
| rs854560 | 2 | 95,316,772 | |
| rs854563 | 0 | 95,318,697 | |
| rs854571 | 0 | 95,325,307 | |
| rs854572 | 0 | 95,325,384 |
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].
