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Rs662

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 2,3 higher risk of of coronary heart disease
(A;G) 0.65x lower risk of ovarian cancer; higher risk of coronary heart disease in some studies; somewhat reduced PON catalytic efficiency
(G;G) 2,3 protective against coronary heart disease in some studies
ReferenceGRCh38 38.1/141
Chromosome7
Position95308134
GenePON1
is asnp
is mentioned by
dbSNPrs662
ebirs662
Exacrs662
PheGenIrs662
hapmaprs662
1000 genomesrs662
hgdprs662
ensemblrs662
gopubmedrs662
geneviewrs662
scholarrs662
googlers662
pharmgkbrs662
gwascentralrs662
openSNPrs662
23andMers662
23andMe allrs662
SNP Nexus

SNPshotrs662
SNPdbers662
MSV3drs662
GWAS Ctlgrs662
GMAF0.4835
Max Magnitude2,3
",3" can not be assigned to a declared number type with value 2.
? (A;A) (A;G) (G;G) 28
rs662, also known as Q192R, is a SNP in the PON1 gene. It codes for amino acid 192 of the paraoxonase (PON) protein. Variants of this SNP affect PON catalytic efficiency and are correlated with Heart disease and trait-anxiety scores. The normal form, rs662(A), encodes a glutamine (Q), while the variant, rs662(G)), encodes an arginine (R). [PMID 8675673OA-icon.png]. While some populations show an association between this SNP and Heart disease, not all do.

Perhaps the most striking finding was reported in Japanese patients with non-insulin dependent diabetes mellitus (NIDDM). NIDDM patients with either one or two rs662(G) alleles had a 9 fold higher risk of coronary heart disease compared with rs662(A;A) NIDDM patients. [PMID 9215303]

table of odds for cardiovascular disease outcomes

[PMID 18708400OA-icon.png] 274 ovarian epithelial carcinoma cases and 452 controls. rs662 odds ratio 0.65 (CI: 0.44-0.95; p for allele-dose effect = 0.03) for ovarian cancer for women carrying the rs662(A) allele compared with women with the (G;G) genotype

[PMID 19263529OA-icon.png] rs1799864(G), rs3025058(A) and rs662 were associated with increased risk, and rs1800775(A) with reduced risk of recurrent venous thromboembolism

[PMID 15060281)] In a study of 461 participants in the HERITAGE cohort (172 African-American, 289 Caucasian), the combination of rs662 with rs854560 was found to significantly contribute to trait-anxiety scores. The high trait-anxiety group included "significantly more subjects homozygous to the Alzheimer's disease- predictive PON192 variant." The authors also cite another paper, [PMID 12525679], which found that this SNP affects PON's catalytic efficiency. From the context, it appears that it is the "R" variant, or rs662(G), which corresponds to the higher trait-anxiety scores and reduced catalytic efficiency, though this is less explicitly stated than one might hope.

[PMID 19321847OA-icon.png] No association between rs662 and amyotrophic lateral sclerosis was seen in this large meta-analysis.

OMIM168820
DescCORONARY ARTERY DISEASE, SUSCEPTIBILITY TO
Variant0001
Relatedalso
[PMID 19651761OA-icon.png] The paraoxonase (PON1) Q192R polymorphism is not associated with poor health status or depression in the ELSA or INCHIANTI studies

[PMID 19357718] Genetic polymorphisms of paraoxonase-1 are associated with chronic kidney disease in Japanese women

[PMID 19778663] Paraoxonase variants relate to 10-year risk in coronary artery disease: impact of a high-density lipoprotein-bound antioxidant in secondary prevention


[PMID 20947215OA-icon.png] Paraoxonase-1 polymorphisms in Alzheimer's disease, Parkinson's disease, and AD-PD spectrum diseases

[PMID 21122033] Leukoaraiosis is associated with genes regulating blood-brain barrier homeostasis in ischaemic stroke patients

[PMID 21223581OA-icon.png] Association analysis of PON2 genetic variants with serum paraoxonase activity and systemic lupus erythematosus


[PMID 20488557] Decreased serum arylesterase activity in autism spectrum disorders


[PMID 21567207] Tetra primer ARMS-PCR relates folate/homocysteine pathway genes and ACE gene polymorphism with coronary artery disease


[PMID 22133529] Paraoxonase 1 genetic polymorphisms and susceptibility to breast cancer: A meta-analysis


[PMID 22187169] A New PCR Method: One Primer Amplification of PCR-CTPP Products


[PMID 22206979] Genetic variants in antioxidant genes are associated with sperm DNA damage and risk of male infertility in a Chinese population


[PMID 22615820OA-icon.png] Paraoxonase 1 Polymorphism and Prenatal Pesticide Exposure Associated with Adverse Cardiovascular Risk Profiles at School Age


ClinVar
Risk rs662(G;G)
Alt rs662(G;G)
Reference rs662(A;A)
Significance Other
Disease Coronary artery disease Coronary artery spasm 2 Enzyme activity finding
Variation info
Gene PON1
CLNDBN Coronary artery disease, susceptibility to Coronary artery spasm 2, susceptibility to Enzyme activity finding
Reversed 1
HGVS NC_000007.13:g.94937446T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014739.2, RCV000014740.2, RCV000133464.2,



[PMID 18034366] Lack of replication of genetic associations with human longevity.


[PMID 18194558OA-icon.png] A hierarchical and modular approach to the discovery of robust associations in genome-wide association studies from pooled DNA samples.


[PMID 18203168OA-icon.png] Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts.


[PMID 18282109OA-icon.png] Adaptations to climate in candidate genes for common metabolic disorders.


[PMID 18513389OA-icon.png] New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.


[PMID 18603647OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.


[PMID 18618303OA-icon.png] A common haplotype within the PON1 promoter region is associated with sporadic ALS.


[PMID 18682580OA-icon.png] Oxidative response gene polymorphisms and risk of adult brain tumors.


[PMID 18787196OA-icon.png] Segment-specific genetic effects on carotid intima-media thickness: the Northern Manhattan study.


[PMID 18936436OA-icon.png] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.


[PMID 19041386OA-icon.png] Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.


[PMID 19104460] Interaction between PON1 and population density in amyotrophic lateral sclerosis.


[PMID 19131662OA-icon.png] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.


[PMID 19276285OA-icon.png] Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.


[PMID 19587357OA-icon.png] A systematic meta-analysis of genetic association studies for diabetic retinopathy.


[PMID 20031584OA-icon.png] Genetics of atherothrombotic and lacunar stroke.


[PMID 20056567OA-icon.png] Childhood brain tumors, residential insecticide exposure, and pesticide metabolism genes.


[PMID 20140262OA-icon.png] Maternal and fetal genetic associations of PTGER3 and PON1 with preterm birth.


[PMID 20381198] Lack of association of PON polymorphisms with sporadic ALS in an Italian population.


[PMID 20616999OA-icon.png] Usefulness of Mendelian randomization in observational epidemiology.


[PMID 20856122OA-icon.png] Paraoxonase 1 polymorphisms and ischemic stroke risk: A systematic review and meta-analysis.


[PMID 21231776] C-reactive protein levels are associated with paraoxonase polymorphism L55M in patients undergoing cardiac SPECT imaging.


[PMID 21438666] Association of PON1 and APOA5 gene polymorphisms in a cohort of Indian patients having coronary artery disease with and without type 2 diabetes.


[PMID 21543280OA-icon.png] Relation between methylmercury exposure and plasma paraoxonase activity in inuit adults from Nunavik.


[PMID 21685174] Paraoxonase-1 Q192R polymorphism and antiplatelet effects of clopidogrel in patients undergoing elective coronary stent placement.


[PMID 22520065OA-icon.png] Influence of the paraoxonase-1 Q192R genetic variant on clopidogrel responsiveness and recurrent cardiovascular events: a systematic review and meta-analysis.


[PMID 22976839] NQO1 rs1800566 (C609T), PON1 rs662 (Q192R), and PON1 rs854560 (L55M) polymorphisms segregate the risk of childhood acute leukemias according to age range distribution


GET Evidence
PON1-Q192R
aa_change Gln192Arg
aa_change_short Q192R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.41188
summary



[PMID 23167629] Common genetic variants in the myeloperoxidase and paraoxonase genes and the related cancer risk: a review


[PMID 23391848] OLR1 , PON1 and MTHFR Gene Polymorphisms, Conventional Risk Factors and the Severity of Coronary Atherosclerosis in a Chinese Han Population


[PMID 23356507OA-icon.png] Association between paraoxonase gene and stroke in the Han Chinese population


[PMID 23651475OA-icon.png] Polymorphisms in xenobiotic metabolizing genes (EPHX1, NQO1 and PON1) in lymphoma susceptibility: a case control study


[PMID 24206655OA-icon.png] Association of a polymorphism in PON-1 gene with steroid-induced osteonecrosis of femoral head in Chinese Han population


[PMID 23903878] Prenatal methylmercury exposure and genetic predisposition to cognitive deficit at age 8 years


[PMID 24448003] Methylmercury exposure, PON1 gene variants and serum paraoxonase activity in Eastern James Bay Cree adults


[PMID 22877234OA-icon.png] Polymorphisms in genes involved in oxidative stress response in patients with sudden sensorineural hearing loss and Meniere's disease in a Japanese population.


[PMID 22884547] Association analysis of PON polymorphisms in sporadic ALS in a Chinese population.


[PMID 23625196] The Q192R polymorphism of the paraoxonase 1 gene is a risk factor for coronary artery disease in Saudi subjects.


[PMID 24833785] Investigation of a PON1 gene polymorphism (rs662 polymorphism) as predictor of subclinical atherosclerosis in patients with rheumatoid arthritis


[PMID 24100645] Association of paraoxonase gene polymorphisms with diabetic nephropathy and retinopathy


[PMID 24903972] Genetic predisposition to calcific aortic stenosis and mitral annular calcification


[PMID 24918121] Association between PON1 rs662 polymorphism and coronary artery disease


[PMID 24965284] Synergistic Epistasis of Paraoxonase 1 (rs662 and rs85460) and Apolipoprotein E4 Genes in Pathogenesis of Alzheimer's Disease and Vascular Dementia


[PMID 24972570] PON1 Q192R polymorphism (rs662) is associated with childhood embryonal tumors


[PMID 24981930] Relationships between PON1 Q192R polymorphism and clinical outcome of antiplatelet treatment after percutaneous coronary intervention: a meta-analysis


[PMID 25500007] Q192R Polymorphism of Paraoxonase 1 Gene Associated with Insulin Resistance in Mexican Children


[PMID 25741997OA-icon.png] Interactions between Paraoxonase 1 Genetic Polymorphisms and Smoking and Their Effects on Oxidative Stress and Lung Cancer Risk in a Korean Population


[PMID 25746376] Interaction effects between Paraoxonase 1 variants and cigarette smoking on risk of coronary heart disease in a Singaporean Chinese population


[PMID 25935173OA-icon.png] Genetic polymorphisms in paraoxonase 1 and G protein-coupled receptor 77, and the risk of glucose-6-phosphate dehydrogenase deficiency in a Saudi population


[PMID 26091975] Paraoxonase-1 and oxidized lipoprotein lipids. The Cardiovascular Risk in Young Finns Study


[PMID 26632904] Association of Paraoxonase 1 Gene Polymorphisms With the Risk of Hepatitis B Virus-related Liver Diseases in a Guangxi Population: A Case-control Study.


[PMID 26870959] Association of PON1, P2Y12 and COX1 with Recurrent Ischemic Events in Patients with Extracranial or Intracranial Stenting.