Rs2383207

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Orientationplus
Geno Mag Summary
(A;A) 0 normal
(A;G) 2 increased risk for heart disease
(G;G) 2.1 increased risk for heart disease
ReferenceGRCh38 38.1/141
Chromosome9
Position22115960
GeneCDKN2B-AS1
is asnp
is mentioned by
dbSNPrs2383207
Exacrs2383207
PheGenIrs2383207
nextbiors2383207
hapmaprs2383207
1000 genomesrs2383207
hgdprs2383207
ensemblrs2383207
gopubmedrs2383207
geneviewrs2383207
scholarrs2383207
googlers2383207
pharmgkbrs2383207
gwascentralrs2383207
openSNPrs2383207
23andMers2383207
23andMe allrs2383207
SNP Nexus

SNPshotrs2383207
SNPdbers2383207
MSV3drs2383207
GMAF0.3324
Max Magnitude2.1
? (A;A) (A;G) (G;G) 28
discussed in this blog post as possibly playing a role in coronary heart disease

[PMID 18048766] This SNP was also associated with increased risk for coronary artery disease in a Korean population.

The association remained significant after adjusting for significant clinical covariates (P=0.001 to 0.024). We identified one risk haplotype (GGGG; P=0.017) and one protective haplotype (AAAA; P=0.007) for development of CAD. Further analysis suggested that the SNPs probably confer susceptibility to CAD in a dominance model (covariates-adjusted P=0.001 to 0.024; OR=2.37 to 1.54).

[PMID 18066490] Also found to be significant in a study of 416 Italian myocardial infarction patients.

[PMID 18757290] Found to be associated with coronary heart disease in a study of 1360 Chinese Han patients, with an odds ratio of 1.52 (CI: 1.13 - 2.04) for rs2383207(G;G) individuals. This risk was magnified in subjects who were males, less than 60 years old, overweight, or smokers.

Neighborrs2383206
Distance933
OMIM611139
DescCORONARY HEART DISEASE, SUSCEPTIBILITY TO, 8; CHDS8
Variant
Relatedalso

[PMID 19293724] The myocardial infarction associated CDKN2A/CDKN2B locus on chromosome 9p21 is associated with stroke independently of coronary events in patients with hypertension

[PMID 19901189OA-icon.png] A Common Variant at 9p21 Is Associated With Sudden and Arrhythmic Cardiac Death


[PMID 20031580] Common genetic variants on chromosome 9p21 confers risk of ischemic stroke: a large-scale genetic association study

GWAS snp
PMID [PMID 20622881OA-icon.png]
Trait Abdominal aortic aneurysm
Title Genome-wide association study identifies a sequence variant with the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm
Risk Allele G
P-val 2E-8
Odds Ratio 1.27 [NR]

[PMID 21152093OA-icon.png] Sex Differential Genetic Effect of Chromosome 9p21 on Subclinical Atherosclerosis


[PMID 22122968] Additive Effect of ANRIL and BRAP Polymorphisms on Ankle-Brachial Index in a Taiwanese Population


[PMID 21385355OA-icon.png] Six sequence variants on chromosome 9p21.3 are associated with a positive family history of myocardial infarction: a multicenter registry


[PMID 18362232OA-icon.png] Repeated replication and a prospective meta-analysis of the association between chromosome 9p21.3 and coronary artery disease.


[PMID 18459066] A common variant on chromosome 9p21 affects the risk of early-onset coronary artery disease.


[PMID 18505420OA-icon.png] Four SNPS on chromosome 9p21 confer risk to premature, familial CAD and MI in an American Caucasian population (GeneQuest).


[PMID 18620593OA-icon.png] Investigation of 89 candidate gene variants for effects on all-cause mortality following acute coronary syndrome.


[PMID 18704761OA-icon.png] Molecular genetics of myocardial infarction.


[PMID 18987759OA-icon.png] Genetic testing for atherosclerosis risk: inevitability or pipe dream?


[PMID 19173706OA-icon.png] The 9p21 susceptibility locus for coronary artery disease and the severity of coronary atherosclerosis.


[PMID 19463184OA-icon.png] Worldwide patterns of haplotype diversity at 9p21.3, a locus associated with type 2 diabetes and coronary heart disease.


[PMID 19475673OA-icon.png] Sequence variants on chromosome 9p21.3 confer risk for atherosclerotic stroke.


[PMID 19819472OA-icon.png] Common genetic variants on chromosome 9p21 predict perioperative myocardial injury after coronary artery bypass graft surgery.


[PMID 19888323OA-icon.png] Relationship between CAD risk genotype in the chromosome 9p21 locus and gene expression. Identification of eight new ANRIL splice variants.


[PMID 19956784OA-icon.png] Association of variation in the chromosome 9p21 locus with myocardial infarction versus chronic coronary artery disease.


[PMID 20386740OA-icon.png] Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression.


[PMID 20718794] Association of polymorphisms in 9p21 region with CAD in North Indian population: replication of SNPs identified through GWAS.


[PMID 20858033] Haplotypes on 9p21 modify the risk for coronary artery disease among Indians.


[PMID 21415773] Chromosome 9p21 genetic variants are associated with myocardial infarction but not with ischemic stroke in a Taiwanese population.


[PMID 23343465OA-icon.png] Assessment of the 9p21.3 locus in severity of coronary artery disease in the presence and absence of type 2 diabetes


[PMID 23535969] Chromosome 9p21 rs10757278 polymorphism is associated with the risk of metabolic syndrome


[PMID 22882272OA-icon.png] Genetic variants associated with myocardial infarction in the PSMA6 gene and Chr9p21 are also associated with ischaemic stroke.


[PMID 22975211] Meta-analysis of genetic association of chromosome 9p21 with early-onset coronary artery disease.