rs4977574

plus

Geno	Mag	Summary
(A;A)	0	common
(A;G)	1.1	Some studies - but not others - report a slightly increased risk for myocardial infarction
(G;G)	1.5	Most studies find a somewhat elevated (~1.5x) risk for myocardial infarction

Reference

GRCh38 38.1/141

Chromosome

9

Position

22098575

Gene	CDKN2B-AS1

is a	snp
is	mentioned by
dbSNP	rs4977574
dbSNP (classic)	rs4977574
ClinGen	rs4977574
ebi	rs4977574
HLI	rs4977574
Exac	rs4977574
Gnomad	rs4977574
Varsome	rs4977574
LitVar	rs4977574
Map	rs4977574
PheGenI	rs4977574
Biobank	rs4977574
1000 genomes	rs4977574
hgdp	rs4977574
ensembl	rs4977574
geneview	rs4977574
scholar	rs4977574
google	rs4977574
pharmgkb	rs4977574
gwascentral	rs4977574
openSNP	rs4977574
23andMe	rs4977574
SNPshot	rs4977574
SNPdbe	rs4977574
MSV3d	rs4977574
GWAS Ctlg	rs4977574

GMAF

0.4169

Max Magnitude

1.5

?

(A;A) (A;G) (G;G)

28

Rs4977574
PubMed	[PMID 17478681 ]
Affy Probeset	SNP_A-2035117
Affy Orientation	same
On GW 5.0	1
Alleles A/B	A/G
Ancestral	A
Population	CEU
Allele	G
Case Freq.
Control Freq.
Odds Ratio Het	1.30
Odds Ratio Hom	1.54
Odds Ratio All	1.23
Disease	Coronary artery disease (CAD)

rs4977574 increases susceptibility to Coronary artery disease 1.30 times for heterozygotes (A;G) and 1.54 times for homozygotes (G;G) [PMID 17478681 ]

[PMID 24270849 ] rs4977574 was found to be associated with myocardial infarction based on a study by the eMERGE network in which electronic medical records were searched to find clinical associations associated with selected SNPs.

GWAS snp
PMID	[PMID 19198609 ]
Trait	Myocardial infarction (early onset)
Title	Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants
Risk Allele	G
P-val	3E-44
Odds Ratio	1.29 [1.25-1.34]

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

GWAS snp
PMID	[PMID 21378990 ]
Trait
Title	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
Risk Allele	G
P-val	1E-22
Odds Ratio	1.2900 [1.23-1.36]

GWAS snp
PMID	[PMID 21378988]
Trait
Title	A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease
Risk Allele	G
P-val	2E-25
Odds Ratio	1.2000 [1.16-1.25]

[PMID 22216278 ] Large Scale Association Analysis Identifies Three Susceptibility Loci for Coronary Artery Disease. In this study of 2,000 patients, rs4977574(G;G) homozygotes had an increased risk (odds ratio) for myocardial infarction of 1.84 (CI: 1.14−3.09, p = 0.011)

[PMID 18987759 ] Genetic testing for atherosclerosis risk: inevitability or pipe dream?

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

[PMID 19463184 ] Worldwide patterns of haplotype diversity at 9p21.3, a locus associated with type 2 diabetes and coronary heart disease.

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

[PMID 20031606 ] The 9p21 myocardial infarction risk allele increases risk of peripheral artery disease in older people.

[PMID 20835900 ] Genetics of diabetes complications.

[PMID 21242481 ] Genetic risk score and risk of myocardial infarction in Hispanics.

[PMID 21347282 ] Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

[PMID 22152955 ] Genetic susceptibility to coronary heart disease in type 2 diabetes: 3 independent studies.

[PMID 23343465 ] Assessment of the 9p21.3 locus in severity of coronary artery disease in the presence and absence of type 2 diabetes

[PMID 23364394] A genome-wide association study of a coronary artery disease risk variant

[PMID 23561647] Genome-wide association study of coronary and aortic calcification implicates risk loci for coronary artery disease and myocardial infarction

[PMID 23828831] The impact of susceptibility loci for coronary artery disease on other vascular domains and recurrence risk

[PMID 23856978] Higher Frequency of rs4977574 (the G Allele) on Chromosome 9p21.3 in Patients with Myocardial Infarction as Revealed by PCR-RFLP Analysis

[PMID 24069144 ] Polymorphism of 9p21.3 locus is associated with 5-year survival in high-risk patients with myocardial infarction

[PMID 23480785] Chromosome 9p21 genetic variation explains 13% of cardiovascular disease incidence but does not improve risk prediction.

[PMID 23631657] Are 25 SNPs from the CARDIoGRAM study associated with ischaemic stroke?

[PMID 24804228 ] The chromosome 9p21 variant not predicting long-term cardiovascular mortality in chinese with established coronary artery disease: an eleven-year follow-up study

[PMID 24998078] Omega-3 fatty acids and the genetic risk of early onset acute coronary syndrome

[PMID 25105296 ] Polymorphism of 9p21.3 locus is associated with 5-year survival in high-risk patients with myocardial infarction

GWAS snp
PMID	[PMID 24916648 ]
Trait	Myocardial infarction
Title	A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese.
Risk Allele	C
P-val	8E-6
Odds Ratio	1.22 [1.12-1.33]

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

[PMID 28580310 ] ANRIL Genetic Variants in Iranian Breast Cancer Patients.

[PMID 31543200 ] Genetic variants of chromosome 9p21.3 region associated with coronary artery disease and premature coronary artery disease in an Asian Indian population.

[PMID 31812071] Genetic variants within ANRIL (antisense non coding RNA in the INK4 locus) are associated with risk of psoriasis.

[PMID 32066403 ] Analysis on the polymorphisms of site RS4977574, and RS1333045 in region 9p21 and the susceptibility of coronary heart disease in Chinese population.

[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 33054494 ] New findings in the roles of Cyclin-dependent Kinase inhibitors 2B Antisense RNA 1 (CDKN2B-AS1) rs1333049 G/C and rs4977574 A/G variants on the risk to coronary heart disease.

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