{{Rsnum
|rsid=10757274
|Gene=CDKN2B-AS1
|Chromosome=9
|position=22096056
|Orientation=plus
|GMAF=0.4229
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=CDKN2B-AS1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 0.0 | 0.0
| HCB | 28.9 | 51.1 | 20.0
| JPT | 27.9 | 48.8 | 23.3
| YRI | 73.0 | 27.0 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 28.9 | 51.1 | 20.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=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|19153409|OA=1
}}

[[rs10757274]] and [[rs2383206]] can double the risk of [[heart disease]][http://www.sciencemag.org/cgi/content/short/316/5830/1488]. About one in every four Caucasians are thought to carry the gene variants. [[rs10757278]] in the same region has been linked to [[diabetes]] [http://www.sciencemag.org/cgi/content/short/316/5830/1491][http://www.forbes.com/forbeslife/health/feeds/hscout/2007/05/03/hscout604291.html]

a [http://suicyte.wordpress.com/2007/05/26/soul-searching-i/ blog post]  about investigating [[rs10757274]] and [[rs2383206]]

[http://suicyte.wordpress.com/2007/05/28/soul-searching-ii/ part 2] in the series mentions [[rs10811661]]

[http://suicyte.wordpress.com/2007/05/28/soul-searching-ii/ 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|18925945|OA=1
}} 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|18957718|OA=1
}} [[rs10757274]], [[rs2383206]], [[rs1333049]] haplotype associated with early-onset CHD (p=7.9 x 10(-7))

{{PMID|19901189|OA=1
}} 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).

* Note: odds ratios cited for genotypes are from {{PMID|17478681|OA=1
}}

{{omim
|desc=CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 8; CHDS8
|id=611139
|rsnum=10757274
}}
{{PMID Auto
|PMID=19559344
|Title=Genetic variants on chromosome 9p21 and ischemic stroke in Chinese
}}

{{PMID Auto
|PMID=20031596
|Title=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
|OA=1
}}
{{PMID Auto
|PMID=20031580
|Title=Common genetic variants on chromosome 9p21 confers risk of ischemic stroke: a large-scale genetic association study
}}

{{PMID Auto
|PMID=19752551
|Title=Polymorphisms associated with both noncardioembolic stroke and coronary heart disease: vienna stroke registry
|OA=1
}}

{{PMID Auto
|PMID=21375403
|Title=The Relationship Between Polymorphisms on Chromosome 9p21 and Age of Onset of Coronary Heart Disease in Black and White Women
|OA=1
}}

{{PMID Auto
|PMID=21385355
|Title=Six sequence variants on chromosome 9p21.3 are associated with a positive family history of myocardial infarction: a multicenter registry
|OA=1
}}

{{PMID Auto
|PMID=22430189
|Title=Replication of relevant SNPs associated with cardiovascular disease susceptibility obtained from GWAs in a case-control study in a Canarian population
|OA=1
}}

{{PMID Auto
|PMID=17767904
|Title=Genetic and genomic insights into the molecular basis of atherosclerosis.
|OA=1
}}

{{PMID Auto
|PMID=18250146
|Title=Chromosome 9p21.3 coronary heart disease locus genotype and prospective risk of CHD in healthy middle-aged men.
}}

{{PMID Auto
|PMID=18362232
|Title=Repeated replication and a prospective meta-analysis of the association between chromosome 9p21.3 and coronary artery disease.
|OA=1
}}

{{PMID Auto
|PMID=18443000
|Title=Susceptibility locus for clinical and subclinical coronary artery disease at chromosome 9p21 in the multi-ethnic ADVANCE study.
|OA=1
}}

{{PMID Auto
|PMID=18505420
|Title=Four SNPS on chromosome 9p21 confer risk to premature, familial CAD and MI in an American Caucasian population (GeneQuest).
|OA=1
}}

{{PMID Auto
|PMID=18599554
|Title=Replication study of 10 genetic polymorphisms associated with coronary heart disease in a specific high-risk population with familial hypercholesterolemia.
|OA=1
}}

{{PMID Auto
|PMID=18620593
|Title=Investigation of 89 candidate gene variants for effects on all-cause mortality following acute coronary syndrome.
|OA=1
}}

{{PMID Auto
|PMID=18704761
|Title=Molecular genetics of myocardial infarction.
|OA=1
}}

{{PMID Auto
|PMID=18987759
|Title=Genetic testing for atherosclerosis risk: inevitability or pipe dream?
|OA=1
}}

{{PMID Auto
|PMID=19019192
|Title=Association of genetic variation on chromosome 9p21.3 and arterial stiffness.
}}

{{PMID Auto
|PMID=19171343
|Title=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.
|OA=1
}}

{{PMID Auto
|PMID=19214202
|Title=Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis.
|OA=1
}}

{{PMID Auto
|PMID=19329499
|Title=A genetic variant on chromosome 9p21 and incident heart failure in the ARIC study.
|OA=1
}}

{{PMID Auto
|PMID=19750184
|Title=Genome-wide association studies for atherosclerotic vascular disease and its risk factors.
|OA=1
}}

{{PMID Auto
|PMID=19888323
|Title=Relationship between CAD risk genotype in the chromosome 9p21 locus and gene expression. Identification of eight new ANRIL splice variants.
|OA=1
}}

{{PMID Auto
|PMID=19956433
|Title=Genetics of coronary artery disease: focus on genome-wide association studies.
|OA=1
}}

{{PMID Auto
|PMID=19956784
|Title=Association of variation in the chromosome 9p21 locus with myocardial infarction versus chronic coronary artery disease.
|OA=1
}}

{{PMID Auto
|PMID=20075150
|Title=Utility of genetic and non-genetic risk factors in prediction of type 2 diabetes: Whitehall II prospective cohort study.
|OA=1
}}

{{PMID Auto
|PMID=20386740
|Title=Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression.
|OA=1
}}

{{PMID Auto
|PMID=20718794
|Title=Association of polymorphisms in 9p21 region with CAD in North Indian population: replication of SNPs identified through GWAS.
}}

{{PMID Auto
|PMID=21804106
|Title=Comparative analysis of genome-wide association studies signals for lipids, diabetes, and coronary heart disease: Cardiovascular Biomarker Genetics Collaboration.
|OA=1
}}

{{PMID Auto
|PMID=22034006
|Title=Variants on chromosome 9p21.3 correlated with ANRIL expression contribute to stroke risk and recurrence in a large prospective stroke population.
}}

{{PMID Auto
|PMID=23249639
|Title=Association between a Marker on Chromosome 9 and Acute Coronary Syndrome. Confirmatory Study on Czech Population
}}

{{PMID Auto
|PMID=23388737
|Title=Association of Single Nucleotide Polymorphisms on Chromosome 9p21.3 With Cardiovascular Death in Kidney Transplant Recipients
}}

{{PMID Auto
|PMID=23535969
|Title=Chromosome 9p21 rs10757278 polymorphism is associated with the risk of metabolic syndrome
}}

{{PMID Auto GWAS
  |PMID=22751097
  |Trait=Coronary heart disease
  |Title=Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.
  |RiskAllele=G
  |Pval=8E-45
  |OR=1.37
  |ORtxt=[1.31-1.43]
  |OA=1
}}

{{PMID Auto
|PMID=22935634
|Title=Effect of 9p21 genetic variation on coronary heart disease is not modified by other risk markers. The Atherosclerosis Risk in Communities (ARIC) Study.
|OA=1
}}

{{PMID Auto
|PMID=22975211
|Title=Meta-analysis of genetic association of chromosome 9p21 with early-onset coronary artery disease.
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}