|(A;G)||2||1.4x increased risk for heart disease|
|(G;G)||3||1.7x increased risk for heart disease|
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.[19033013?dopt=Abstract PMID 19033013]
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[PMID 18757290] Associations between single nucleotide polymorphisms on chromosome 9p21 and risk of coronary heart disease in Chinese Han population.
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[PMID 19173706] The 9p21 susceptibility locus for coronary artery disease and the severity of coronary atherosclerosis.
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[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
[PMID 22975211] Meta-analysis of genetic association of chromosome 9p21 with early-onset coronary artery disease.
[PMID 26109989] The cardiovascular implication of single nucleotide polymorphisms of chromosome 9p21 locus among Arab population
[PMID 29905076] Genetic Variation in 9p21 and the Plasma Proteome.