rs10757274 and rs2383206 can significantly increase the risk of heart disease. About one in every four Caucasians are thought to carry the variants, and their risk of coronary heart disease is increased by 30 to 40%. rs10757278 in the same region has been linked to diabetes . The chromosomal region where these SNPs are located is 9p21, and has no known genes.
[PMID 18066490] Also found to be significant in a study of 416 Italian myocardial infarction patients.
A study of 1,000+ patients with early-onset angiographic coronary artery disease (CAD) concluded that rs2383206(G) was associated with an adjusted odds ratio of 1.39 (CI: 1.05-1.85) for (A;G) heterozygotes and 1.73 (CI: 1.26-2.37) for (G;G) homozygotes. This SNP alone accounted for 21% of the population attributable fraction and was independent of traditional risk factors, myocardial infarction risk, and the extent of disease.[PMID 19033013]
[PMID 19559344] Genetic variants on chromosome 9p21 and ischemic stroke in Chinese
[PMID 20031605] 9p21 is a Shared Susceptibility Locus Strongly for Coronary Artery Disease and Weakly for Ischemic Stroke in Chinese Han Population
[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 22622453] The 9p21 coronary artery disease locus and kidney dysfunction in patients with Type 2 diabetes mellitus
[PMID 18362232] Repeated replication and a prospective meta-analysis of the association between chromosome 9p21.3 and coronary artery disease.
[PMID 18443000] Susceptibility locus for clinical and subclinical coronary artery disease at chromosome 9p21 in the multi-ethnic ADVANCE study.
[PMID 18505420] Four SNPS on chromosome 9p21 confer risk to premature, familial CAD and MI in an American Caucasian population (GeneQuest).
[PMID 18620593] Investigation of 89 candidate gene variants for effects on all-cause mortality following acute coronary syndrome.
[PMID 18704761] Molecular genetics of myocardial infarction.
[PMID 18757290] Associations between single nucleotide polymorphisms on chromosome 9p21 and risk of coronary heart disease in Chinese Han population.
[PMID 18957718] Chromosome 9p21.3 is associated with early-onset coronary heart disease in the Irish population.
[PMID 18987759] Genetic testing for atherosclerosis risk: inevitability or pipe dream?
[PMID 19033589] Interaction between poor glycemic control and 9p21 locus on risk of coronary artery disease in type 2 diabetes.
[PMID 19173706] The 9p21 susceptibility locus for coronary artery disease and the severity of coronary atherosclerosis.
[PMID 19329499] A genetic variant on chromosome 9p21 and incident heart failure in the ARIC study.
[PMID 19379518] Development of a fingerprinting panel using medically relevant polymorphisms.
[PMID 19578366] Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.
[PMID 19888323] Relationship between CAD risk genotype in the chromosome 9p21 locus and gene expression. Identification of eight new ANRIL splice variants.
[PMID 19956433] Genetics of coronary artery disease: focus on genome-wide association studies.
[PMID 19956784] Association of variation in the chromosome 9p21 locus with myocardial infarction versus chronic coronary artery disease.
[PMID 20386740] Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression.
[PMID 20565774] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
[PMID 23086272] Association between 9p21.3 genomic markers and coronary artery disease in East Asians: a meta-analysis involving 9,813 cases and 10,710 controls
[PMID 23134948] Association between 9p21 genetic variants and mortality risk in a prospective cohort of patients with type 2 diabetes (ZODIAC-15)
[PMID 23388737] Association of Single Nucleotide Polymorphisms on Chromosome 9p21.3 With Cardiovascular Death in Kidney Transplant Recipients