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From SNPedia

Geno Mag Summary
(A;A) normal
(A;G) ~1.2x increased risk for heart disease
(G;G) ~1.3x increased risk for heart disease
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
dbSNP (classic)rs10757274
1000 genomesrs10757274
GWAS Ctlgrs10757274
Max Magnitude0
? (A;A) (A;G) (G;G) 28

rs10757274 is a SNP located in chromosomal region 9p21; to date (2009), it is the strongest genetic predictor of early myocardial infarction (heart attack) discovered so far. SNPs in this region are also associated with increased risk of stroke, abdominal aortic aneurysm (AAA), and intracranial aneurysm.

Based on a large (20,000+) study primarily of Caucasian females, it appears that on its own, this single SNP does not improve on the discrimination or classification of predicted heart disease risk achieved by traditional risk factors, high-sensitivity C-reactive protein, and a family history of premature myocardial infarction. [PMID 19153409OA-icon.png]

rs10757274 and rs2383206 can double the risk of heart disease[1]. About one in every four Caucasians are thought to carry the gene variants. rs10757278 in the same region has been linked to diabetes [2][3]

a blog post about investigating rs10757274 and rs2383206

part 2 in the series mentions rs10811661

part 3 in the series mentions rs1333040, rs2383207 and rs10116277 rs10811661

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

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

[PMID 18925945OA-icon.png] A study of 7,893 participants in the Rotterdam Study did not find any association between rs10757274 and either coronary heart disease or myocardial infarction.

[PMID 18957718OA-icon.png] rs10757274, rs2383206, rs1333049 haplotype associated with early-onset CHD (p=7.9 x 10(-7))

[PMID 19901189OA-icon.png] A study of 492 sudden and/or arrhythmic deaths and 1460 matched controls concluded that each rs10757274(G) allele conferred an odds ratio of about 1.3 for sudden cardiac death (p=0.003-0.001).


[PMID 19559344] Genetic variants on chromosome 9p21 and ischemic stroke in Chinese

[PMID 20031596OA-icon.png] Impact of Adding a Single Allele in the 9p21 Locus to Traditional Risk Factors on Reclassification of Coronary Heart Disease Risk and Implications for Lipid-Modifying Therapy in the Atherosclerosis Risk in Communities Study

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

[PMID 19752551OA-icon.png] Polymorphisms associated with both noncardioembolic stroke and coronary heart disease: vienna stroke registry

[PMID 21375403OA-icon.png] The Relationship Between Polymorphisms on Chromosome 9p21 and Age of Onset of Coronary Heart Disease in Black and White Women

[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 22430189OA-icon.png] Replication of relevant SNPs associated with cardiovascular disease susceptibility obtained from GWAs in a case-control study in a Canarian population

[PMID 17767904OA-icon.png] Genetic and genomic insights into the molecular basis of atherosclerosis.

[PMID 18250146] Chromosome 9p21.3 coronary heart disease locus genotype and prospective risk of CHD in healthy middle-aged men.

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

[PMID 18443000OA-icon.png] Susceptibility locus for clinical and subclinical coronary artery disease at chromosome 9p21 in the multi-ethnic ADVANCE study.

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

[PMID 18599554OA-icon.png] Replication study of 10 genetic polymorphisms associated with coronary heart disease in a specific high-risk population with familial hypercholesterolemia.

[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 19019192] Association of genetic variation on chromosome 9p21.3 and arterial stiffness.

[PMID 19171343OA-icon.png] Lack of association of chromosome 9p21.3 genotype with cardiovascular structure and function in persons with stable coronary artery disease: The Heart and Soul Study.

[PMID 19214202OA-icon.png] Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis.

[PMID 19329499OA-icon.png] A genetic variant on chromosome 9p21 and incident heart failure in the ARIC study.

[PMID 19750184OA-icon.png] Genome-wide association studies for atherosclerotic vascular disease and its risk factors.

[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 19956433OA-icon.png] Genetics of coronary artery disease: focus on genome-wide association studies.

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

[PMID 20075150OA-icon.png] Utility of genetic and non-genetic risk factors in prediction of type 2 diabetes: Whitehall II prospective cohort study.

[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 21804106OA-icon.png] Comparative analysis of genome-wide association studies signals for lipids, diabetes, and coronary heart disease: Cardiovascular Biomarker Genetics Collaboration.

[PMID 22034006] Variants on chromosome 9p21.3 correlated with ANRIL expression contribute to stroke risk and recurrence in a large prospective stroke population.

[PMID 23249639] Association between a Marker on Chromosome 9 and Acute Coronary Syndrome. Confirmatory Study on Czech Population

[PMID 23388737] Association of Single Nucleotide Polymorphisms on Chromosome 9p21.3 With Cardiovascular Death in Kidney Transplant Recipients

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

GWAS snp
PMID [PMID 22751097OA-icon.png]
Trait Coronary heart disease
Title Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.
Risk Allele G
P-val 8E-45
Odds Ratio 1.37 [1.31-1.43]

[PMID 22935634OA-icon.png] Effect of 9p21 genetic variation on coronary heart disease is not modified by other risk markers. The Atherosclerosis Risk in Communities (ARIC) Study.

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

[PMID 26109989OA-icon.png] The cardiovascular implication of single nucleotide polymorphisms of chromosome 9p21 locus among Arab population

[PMID 26944720] Polymorphisms in the long non-coding RNA CDKN2B-AS1 may contribute to higher systolic blood pressure levels in hypertensive patients.

[PMID 28057453] Association of ANRIL gene polymorphisms with major adverse cardiovascular events in hemodialysis patients.

[PMID 29905076] Genetic Variation in 9p21 and the Plasma Proteome.

[PMID 31472045] Common SNP-based haplotype analysis of the 9p21.3 gene locus as predictor coronary artery disease in Tanzanian population.

[PMID 32011499OA-icon.png] Rs10757274 gene polymorphisms in coronary artery disease: A systematic review and a meta-analysis.

[PMID 32390081] The Single Nucleotide Polymorphisms of Chromosome 9p21 and CD147 Were Relevant with the Carotid Plaque Risk in Acute Cerebral Infarction Patients Among Chinese Han Population.

[PMID 32396387OA-icon.png] Metabolic Dysregulation of the Lysophospholipid/autotaxin Axis in the Chromosome 9p21 Gene SNP rs10757274.

[PMID 32293292OA-icon.png] Susceptible gene polymorphism in patients with three-vessel coronary artery disease.