|rs1333040 associated with increased risk of myocardial infarction and intracranial aneurysm.|
|(C;T)||0||1.24x increased myocardial infarction risk, ~1.24x increased intracranial aneurysm risk|
|(T;T)||1.52x increased myocardial infarction risk, ~1.54x increased intracranial aneurysm risk|
A meta-analysis of 116,000 individuals reported an association between rs1333040 and intracranial aneuryms (OR 1.24; 95% CI 1.20–1.29). See PMC3716358
- rs700651 2 G 1.18x risk 1.56x risk
- rs10958409 8 A 1.37x risk 1.79x risk
- rs1333040 9 T 1.29x risk 1.67x risk
|Title||Susceptibility loci for intracranial aneurysm in European and Japanese populations|
|Odds Ratio||1.29 [1.19-1.40]|
[PMID 20190001] The Relationship Between Smoking and Replicated Sequence Variants on Chromosomes 8 and 9 With Familial Intracranial Aneurysm
|Title||Genome-wide association study of intracranial aneurysm identifies three new risk loci|
|Odds Ratio||1.32 [1.25-1.39]|
[PMID 21152093] Sex Differential Genetic Effect of Chromosome 9p21 on Subclinical Atherosclerosis
[PMID 21315566] Type 2 diabetes and polymorphisms on chromosome 9p21: A meta-analysis
[PMID 21375403] The Relationship Between Polymorphisms on Chromosome 9p21 and Age of Onset of Coronary Heart Disease in Black and White Women
[PMID 20718794] Association of polymorphisms in 9p21 region with CAD in North Indian population: replication of SNPs identified through GWAS
[PMID 21385355] Six sequence variants on chromosome 9p21.3 are associated with a positive family history of myocardial infarction: a multicenter registry
[PMID 18362232] Repeated replication and a prospective meta-analysis of the association between chromosome 9p21.3 and coronary artery disease.
[PMID 18469204] Implication of genetic variants near TCF7L2, SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, and FTO in type 2 diabetes and obesity in 6,719 Asians.
[PMID 18620593] Investigation of 89 candidate gene variants for effects on all-cause mortality following acute coronary syndrome.
[PMID 18987759] Genetic testing for atherosclerosis risk: inevitability or pipe dream?
[PMID 19002430] Type 2 diabetes-associated genetic variants discovered in the recent genome-wide association studies are related to gestational diabetes mellitus in the Korean population.
[PMID 19474294] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
[PMID 19475673] Sequence variants on chromosome 9p21.3 confer risk for atherosclerotic stroke.
[PMID 20386740] Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression.
[PMID 20395613] Confirmation of an association of single-nucleotide polymorphism rs1333040 on 9p21 with familial and sporadic intracranial aneurysms in Japanese patients.
[PMID 20595659] Differential effects of chromosome 9p21 variation on subphenotypes of intracranial aneurysm: site distribution.
[PMID 21415773] Chromosome 9p21 genetic variants are associated with myocardial infarction but not with ischemic stroke in a Taiwanese population.
[PMID 21757122] Influence of 9p21.3 genetic variants on clinical and angiographic outcomes in early-onset myocardial infarction.
[PMID 21896860] Association of genetic variation on chromosome 9p21 with polypoidal choroidal vasculopathy and neovascular age-related macular degeneration.
|qualified_impact||Insufficiently evaluated pathogenic|
[PMID 22899653] Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls
[PMID 23606732] Association between the rs1333040 polymorphism on the chromosomal 9p21 locus and sporadic brain arteriovenous malformations
[PMID 22476622] Increased risk of stroke in oral contraceptive users carried replicated genetic variants: a population-based case-control study in China.
[PMID 22882272] Genetic variants associated with myocardial infarction in the PSMA6 gene and Chr9p21 are also associated with ischaemic stroke.
[PMID 23733552] Genetic risk factors for intracranial aneurysms: a meta-analysis in more than 116,000 individuals.
[PMID 24820060] Association between Polymorphisms rs1333040 and rs7865618 of Chromosome 9p21 and Sporadic Brain Arteriovenous Malformations
[PMID 26186006] Genetic Variants Underlying Risk of Intracranial Aneurysms: Insights from a GWAS in Portugal
[PMID 26597055] Association Study of rs1333040 and rs1004638 Polymorphisms in the 9p21 Locus with Coronary Artery Disease in Southwest of Iran.