Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

PON1

Gene name: paraoxonase 1
OMIM ID: 168820
Chromosome location: 7q21.3

Polymorphisms

Disease/PhenotypeCoronary artery disease, susceptibility to
Reference transcriptNM_000446.5
DNA Changec.575A>G
A.A. Changep.Gln192Arg
Exon/Intronexon 6
Variation Typesubstitution
Reference SNPrs662
Cases205 patients with ACS
Controls100 healthy subjects
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Q71.46% (n = 293)75.50% (n = 151)1
R28.53% (n = 117)24.50% (n = 49)1.3 (0.879-1.922)<0.19
QQ55.12% (n = 113)57% (n = 56)1
QR32.68% (n = 67)39% (n = 39)0.867 (0.522-1.439)NS
RR12.19% (n = 25)5% (n = 5)3.153 (1.04-9.49)<0.041
ReferenceBounafaa A, Berrougui H, Ghalim N, Nasser B, Bagri A, Moujahid A, Ikhlef S, Camponova P, Yamoul N, Simo OK, Essamadi A, Khalil A. Association between Paraoxonase 1 (PON1) Polymorphisms and the Risk of Acute Coronary Syndrome in a North African Population.
PLoS One. 2015 Aug 4;10(8):e0133719. doi: 10.1371/journal.pone.0133719. eCollection 2015.
Disease/PhenotypeCoronary artery disease, susceptibility to
Reference transcriptNM_000446.5
DNA Changec.163T>A
A.A. Changep.Leu55Met
Exon/Intronexon 3
Variation Typesubstitution
Reference SNPrs854560
Cases205 patients with ACS
Controls100 healthy subjects
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
L62.68% (n = 257)73% (n = 146)1
M37.32% (n = 153)27% (n = 54)1.61 (1.11-2.33)0.012
LL37.56% (n = 76)51% (n = 52)1
LM51.22% (n = 105)43% (n = 42)1.71 (1.04-2.83)0.036
MM11.71% (n = 24)6% (n = 6) 2.74 (1.04-7.16)0.04
ReferenceBounafaa A, Berrougui H, Ghalim N, Nasser B, Bagri A, Moujahid A, Ikhlef S, Camponova P, Yamoul N, Simo OK, Essamadi A, Khalil A. Association between Paraoxonase 1 (PON1) Polymorphisms and the Risk of Acute Coronary Syndrome in a North African Population.
PLoS One. 2015 Aug 4;10(8):e0133719. doi: 10.1371/journal.pone.0133719. eCollection 2015.