rs3917490
This variant is located in the PON1 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
free cholesterol to total lipids in small HDL percentage
▶Research that mentions this SNP (1)
▶Interactions between superoxide dismutase and paraoxonase polymorphic variants in nonsyndromic cleft lip with or without cleft palate in the Brazilian populationAssociationN=1,915Renato Assis Machado et al.(2019)· Environmental and Molecular Mutagenesis
Two-stage genetic study examining 28 SNPs in oxidative stress genes (SOD1, SOD2, SOD3, PON1, PON2, PON3) in relation to nonsyndromic cleft lip with or without cleft palate (NSCL/CP) in Brazilian population. Initial transmission disequilibrium test (TDT) on 325 trios identified gene-gene interactions, which were validated in case-control analysis (722 cases, 866 controls). PON1 rs2237583 C allele showed protective effect (OR=0.79, 95% CI 0.67-0.93, p=0.005), and multiple significant PON1-PON2-PON3 gene-gene interactions were detected after Bonferroni correction.
About PON1
This gene encodes a member of the paraoxonase family of enzymes and exhibits lactonase and ester hydrolase activity. Following synthesis in the kidney and liver, the enzyme is secreted into the circulation, where it binds to high density lipoprotein (HDL) particles and hydrolyzes thiolactones and xenobiotics, including paraoxon, a metabolite of the insecticide parathion. Polymorphisms in this gene may be associated with coronary artery disease and diabetic retinopathy. The gene is found in a cluster of three related paraoxonase genes on chromosome 7. [provided by RefSeq, Aug 2017]
View all PON1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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