rs854560
This is a variant in the PON1 gene that changes a leucine to an methionine.
▶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.
atopic eczema
▶ClinVar annotation
Coronary artery disease, susceptibility to; Enzyme activity finding; Microvascular complications of diabetes, susceptibility to, 5; PON1-related disorder
View on ClinVar →▶Research that mentions this SNP (3)
▶Impact of inflammation, gene variants, and cigarette smoking on coronary artery disease riskAssociationN=1,959Mahmoud Merhi et al.(2015)· Inflammation Research
Case-control study of 1,959 Lebanese subjects investigating genetic variants in inflammatory pathway genes and coronary artery disease (CAD) risk. Four variants showed significant associations: rs4769874 (ALOX5AP, OR=1.54, p=0.011), rs9579646 (ALOX5AP, OR=0.76, p=0.001), rs4646903 (CYP1A1, OR=1.68, p=0.019), and rs854560 (PON1, OR=1.36, p=0.017). A significant smoking-gene interaction was found with rs4646903 in current smokers (OR=0.52, p=0.037).
▶Variants in ABCB1 , TGFB1 , and XRCC1 genes and susceptibility to viral hepatitis A infection in Mexican AmericansAssociationN=6,779Lyna Zhang et al.(2012)· Hepatology
Candidate gene association study of 67 genetic variants in 27 inflammation and DNA repair genes with hepatitis A virus (HAV) infection susceptibility in 6,779 NHANES III participants (2,619 non-Hispanic whites, 2,095 non-Hispanic blacks, 2,065 Mexican Americans). Among Mexican Americans, ABCB1 rs1045642 T allele was associated with lower HAV seropositivity risk (OR=0.79, p<0.001), while TGFB1 rs1800469 and XRCC1 rs1799782 T alleles were associated with increased risk (OR=1.38 and 1.57, respectively). CAT rs769214 and CYP2E1 rs2031920 showed marginal associations with decreased and increased HAV risk, respectively.
▶Folate and one‐carbon metabolism gene polymorphisms and their associations with oral facial cleftsAssociationN=553Abee L. Boyles et al.(2008)· American Journal of Medical Genetics Part A
This family-based association study examined 12 polymorphisms in one-carbon metabolism genes (BHMT, CBS, MTHFD1, MTHFR, MTR, MTRR, SLC19A1, TCN2) and their associations with oral facial clefts in 553 Norwegian families. CBS rs234706 showed a significant maternal protective effect on cleft lip/palate risk (LRT p=0.008), with homozygous carriers of the T allele showing reduced risk (RR=0.50, 95% CI 0.26-0.96). MTHFR rs1801133 demonstrated a protective effect in the low-folate supplementation subset (RR=0.60-0.44), and maternal folic acid supplementation ≥400 μg/day was associated with 39% reduction in cleft lip/palate risk.
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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