openSNP | rs10757278

Links to SNPedia

Title	Summary
rs10757278 A/A	0.78x reduced risk for coronary heart disease. 0.77x reduced risk for brain aneurysm and abdominal aortic aneurysm.
rs10757278 G/G	1.6x risk for heart attack; 1.3x risk for abdominal aortic aneurysm and brain aneurysm.
rs10757278 A/G	1.3x risk for heart attack. normal risk for abdominal aortic aneurysm and brain aneurysm.

Note: For some SNPs, testing providers detect the genotype from the opposite strand of DNA, so that the genotypes listed on openSNP don't appear here. In those cases, please replace "A" by "T" or "G" by "C" (and vice-versa).

Publications on this SNP on the Public Library of Science:

First Author	Title	Year of Publication	# of readers
Arne S. Schaefer	Identification of a Shared Genetic Susceptibility Locus for Coronary Heart Disease and Periodontitis	2009	14022
Sarah A. Pendergrass	Phenome-Wide Association Study (PheWAS) for Detection of Pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) Network	2013	14487
Ron Do	The Effect of Chromosome 9p21 Variants on Cardiovascular Disease May Be Modified by Dietary Intake: Evidence from a Case/Control and a Prospective Study	2011	34110
Lasse Folkersen	Relationship between CAD Risk Genotype in the Chromosome 9p21 Locus and Gene Expression. Identification of Eight New ANRIL Splice Variants	2009	7191
Yan Liu	INK4/ARF Transcript Expression Is Associated with Chromosome 9p21 Variants Linked to Atherosclerosis	2009	9514
Lesca M. Holdt	Alu Elements in ANRIL Non-Coding RNA at Chromosome 9p21 Modulate Atherogenic Cell Functions through Trans-Regulation of Gene Networks	2013	15227
Frank Beutner	Rationale and Design of the Leipzig (LIFE) Heart Study: Phenotyping and Cardiovascular Characteristics of Patients with Coronary Artery Disease	2011	4272
Christin E. Burd	Expression of Linear and Novel Circular Forms of an INK4/ARF-Associated Non-Coding RNA Correlates with Atherosclerosis Risk	2010	15860
Anna Szpakowicz	Polymorphism of 9p21.3 Locus Is Associated with 5-Year Survival in High-Risk Patients with Myocardial Infarction	2014	1806
Hsiu-Fen Lin	Sex Differential Genetic Effect of Chromosome 9p21 on Subclinical Atherosclerosis	2010	2784
Fang Xie	Replication of Putative Susceptibility Loci from Genome-Wide Association Studies Associated with Coronary Atherosclerosis in Chinese Han Population	2011	2690
Xiaoqing Ni	Association between 9p21 Genomic Markers and Ischemic Stroke Risk: Evidence Based on 21 Studies	2014	1896
Anna Szpakowicz	Polymorphism of 9p21.3 Locus Is Associated with 5-Year Survival in High-Risk Patients with Myocardial Infarction	2013	1873
Michael S. Cunnington	Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression	2010	17779
Melinda Butsch Kovacic	Identification of KIF3A as a Novel Candidate Gene for Childhood Asthma Using RNA Expression and Population Allelic Frequencies Differences	2011	3933
Arne S. Schaefer	Identification of a Shared Genetic Susceptibility Locus for Coronary Heart Disease and Periodontitis	2009	18624
Perttu P. Salo	Genetic Variants on Chromosome 1p13.3 Are Associated with Non-ST Elevation Myocardial Infarction and the Expression of DRAM2 in the Finnish Population	2015	1938
Hirofumi Nakaoka	Allelic Imbalance in Regulation of ANRIL through Chromatin Interaction at 9p21 Endometriosis Risk Locus	2016	4299

Publications on this SNP on Mendeley

First Author	Title	Pub. Year	# of Readers	DOI
Andrzej Bochenek	The rs10757278 Polymorphism of the 9p21.3 Locus Is Associated with Premature Coronary Artery Disease in Polish Patients	2012	1	10.1089/gtmb.2012.0046
Olivier Harismendy	9p21 DNA variants associated with coronary artery disease impair interferon-gamma singalling response	2011	1	10.1038/nature09753
W. Zhang	Variants on Chromosome 9p21.3 Correlated With ANRIL Expression Contribute to Stroke Risk and Recurrence in a Large Prospective Stroke Population	2012	2	10.1161/STROKEAHA.111.625442
John Mackay	Longitudinal study of a 9p21.3 SNP using a national electronic healthcare database	2010	1	10.2217/pme.10.34
W Zhang	Variants on chromosome 9p21.3 correlated with ANRIL expression contribute to stroke risk and recurrence in a large prospective stroke population	2012	1	10.1161/STROKEAHA.111.625442
Anna Helgadottir	The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm.	2008	76	10.1038/ng.72
Luciana Gioli-Pereira	Higher incidence of death in multi-vessel coronary artery disease patients associated with polymorphisms in chromosome 9p21.	2012	1	10.1186/1471-2261-12-61
Li Ting Zhou	Meta-analysis of genetic association of chromosome 9p21 with early-onset coronary artery disease	2012	3	10.1016/j.gene.2012.09.003
O Harismendy	9p21 DNA variants associated with coronary artery disease impair interferon-gamma signalling response	2011	3	Doi 10.1038/Nature09753
Christie Cluett	The 9p21 myocardial infarction risk allele increases risk of peripheral artery disease in older people.	2009	5	10.1161/CIRCGENETICS.108.825935
Christie Cluett	The 9p21 myocardial infarction risk allele increases risk of peripheral artery disease in older people.	2009	5	-
Whady Hueb	Higher incidence of death in multi-vessel coronary artery disease patients associated with polymorphisms in chromosome 9p21	2012	2	10.1186/1471-2261-12-61
Kaisa Silander	Worldwide patterns of haplotype diversity at 9p21.3, a locus associated with type 2 diabetes and coronary heart disease.	2009	5	10.1186/gm51
Abbas Dehghan	Lack of association of two common polymorphisms on 9p21 with risk of coronary heart disease and myocardial infarction; results from a prospective cohort study	2008	8	10.1186/1741-7015-6-30
C Cluett	The 9p21 myocardial infarction risk allele increases risk of peripheral artery disease in older people	2009	1
Seamus C Harrison	Association of a sequence variant in DAB2IP with coronary heart disease.	2012	1	10.1093/eurheartj/ehr075
Jiaping Chen	Genetic variants at chromosome 9p21, 10p15 and 10q22 and breast cancer susceptibility in a Chinese population.	2012	0	10.1007/s10549-011-1927-y
Olivier Harismendy	9p21 DNA variants associated with coronary artery disease impair interferon-γ signalling response.	2011	106	-
G W D Landman	Two common variants on 9p21 affect mortality risk in type 2 diabetes patients (ZODIAC-15)	2010	1
Gijs Wd Landman	Association between 9p21 genetic variants and mortality risk in a prospective cohort of patients with type 2 diabetes (ZODIAC-15).	2012	1
C D Anderson	Chromosome 9p21 in ischemic stroke: population structure and meta-analysis	2010	1	-
Abbas Dehghan	Lack of association of two common polymorphisms on 9p21 with risk of coronary heart disease and myocardial infarction; results from a prospective cohort study.	2008	4	10.1186/1741-7015-6-30
Gong-Qing Shen	Association between four SNPs on chromosome 9p21 and myocardial infarction is replicated in an Italian population.	2008	7	10.1007/s10038-007-0230-6
G W D Landman	Two common variants on 9p21 affect mortality risk in type 2 diabetes patients (ZODIAC-15)	2010	1	-
Denis Tsygankov	A quantitative model for age-dependent expression of the p16INK4a tumor suppressor.	2009	16	10.1073/pnas.0904405106
Robin Lemmens	Variant on 9p21 strongly associates with coronary heart disease, but lacks association with common stroke.	2009	2	10.1038/ejhg.2009.42
Li-Ting Zhou	Meta-analysis of genetic association of chromosome 9p21 with early-onset coronary artery disease.	2012	2	10.1016/j.gene.2012.09.003
Ambarish Dutta	The Coronary Artery Disease Associated 9p21 Variant and Later Life 20 Year Survival to Cohort Extinction.	2011	5	10.1161/CIRCGENETICS.111.960146
Jiaping Chen	Genetic variants at chromosome 9p21, 10p15 and 10q22 and breast cancer susceptibility in a Chinese population	2012	4	10.1007/s10549-011-1927-y
S. Olsson	Association between genetic variation on chromosome 9p21 and aneurysmal subarachnoid haemorrhage	2011	1
Burcu Bayoglu	Chromosome 9p21 rs10757278 polymorphism is associated with the risk of metabolic syndrome.	2013	2	10.1007/s11010-013-1629-3
K G Abdullah	Four SNPS on chromosome 9p21 confer risk to premature, familial CAD and MI in an American Caucasian population (GeneQuest).	2008	3	10.1111/j.1469-1809.2008.00454.x
Christopher D Anderson	Chromosome 9p21 in ischemic stroke: population structure and meta-analysis.	2010	6	10.1161/STROKEAHA.110.580589
Paulina Haas	Genetic cardiovascular risk factors and age-related macular degeneration.	2011	0	10.1111/j.1755-3768.2009.01697.x
Denis Tsygankov	A quantitative model for age-dependent expression of the p16INK4a tumor suppressor.	2009	16	10.1073/pnas.0904405106
A Dehghan	Lack of association of two common polymorphisms on 9p21 with risk of coronary heart disease and myocardial infarction; results from a prospective cohort study	2008	1	Artn 30\nDoi 10.1186/1741-7015-6-30
S Olsson	Association between genetic variation on chromosome 9p21 and aneurysmal subarachnoid haemorrhage	2010	1	jnnp.2009.187427 [pii]\n10.1136/jnnp.2009.187427
O Liu	Genetic analysis of six SNPs in candidate genes associated with high cross-race risk of development of thoracic aortic aneurysms and dissections in Chinese Han population	2010	1	10.1038/aps.2010.159
Salim S Virani	Chromosome 9p21 single nucleotide polymorphisms are not associated with recurrent myocardial infarction in patients with established coronary artery disease.	2012	1
Zhong Chen	A common variant on chromosome 9p21 affects the risk of early-onset coronary artery disease.	2009	6	10.1007/s11033-008-9259-7
Olivier Harismendy	disease impair interferon-c signalling response	2011	5	10.1038/nature09753
Thomas Scheffold	Six sequence variants on chromosome 9p21.3 are associated with a positive family history of myocardial infarction: a multicenter registry.	2011	7	10.1186/1471-2261-11-9
Hirokuni Hashikata	Confirmation of an association of single-nucleotide polymorphism rs1333040 on 9p21 with familial and sporadic intracranial aneurysms in Japanese patients.	2010	4	10.1161/STROKEAHA.109.576694
B Bayoglu	Chromosome 9p21 rs10757278 polymorphism is associated with the risk of metabolic syndrome	2013	1	10.1007/s11010-013-1629-3
Ambarish Dutta	The Coronary Artery Disease Associated 9p21 Variant and Later Life 20 Year Survival to Cohort Extinction.	2011	4	10.1161/CIRCGENETICS.111.960146
X Zhang	Association of Genetic Variation on Chromosome 9p21 with Polypoidal Choroidal Vasculopathy and Neovascular Age-Related Macular Degeneration	2011	0	10.1167/iovs.11-7820
Hu Ding	9p21 is a shared susceptibility locus strongly for coronary artery disease and weakly for ischemic stroke in Chinese Han population.	2009	5	-
C Cluett	The 9p21 myocardial infarction risk allele increases risk of peripheral artery disease in older people	2009	2	CIRCGENETICS.108.825935 [pii]\n10.1161/CIRCGENETICS.108.825935
Gong-Qing Shen	Four SNPs on chromosome 9p21 in a South Korean population implicate a genetic locus that confers high cross-race risk for development of coronary artery disease.	2008	6	10.1161/ATVBAHA.107.157248
Hirokuni Hashikata	Confirmation of an association of single-nucleotide polymorphism rs1333040 on 9p21 with familial and sporadic intracranial aneurysms in Japanese patients.	2010	5	10.1161/STROKEAHA.109.576694
B Bayoglu	Chromosome 9p21 rs10757278 polymorphism is associated with the risk of metabolic syndrome	2013	0	10.1007/s11010-013-1629-3
Yan Liu	INK4/ARF Transcript Expression Is Associated with Chromosome 9p21 Variants Linked to Atherosclerosis	2009	33	10.1371/journal.pone.0005027
Burcu Bayoglu	Chromosome 9p21 rs10757278 polymorphism is associated with the risk of metabolic syndrome.	2013	2	10.1007/s11010-013-1629-3
Riyaz S Patel	The chromosome 9p21 risk locus is associated with angiographic severity and progression of coronary artery disease.	2010	10	10.1093/eurheartj/ehq272
Qiang Zeng	Polymorphisms on chromosome 9p21 confer a risk for acute coronary syndrome in a Chinese Han population.	2013	1	10.1016/j.cjca.2012.11.028
O Harismendy	9p21 DNA variants associated with coronary artery disease impair interferon-gamma signalling response	2011	4	10.1038/nature09753
K G Abdullah	Four SNPS on chromosome 9p21 confer risk to premature, familial CAD and MI in an American Caucasian population (GeneQuest).	2008	2	-
Jin Guo	Association between 9p21.3 genomic markers and coronary artery disease in East Asians: a meta-analysis involving 9,813 cases and 10,710 controls	2012	2	10.1007/s11033-012-2066-1
Gijs W D Landman	Association between 9p21 genetic variants and mortality risk in a prospective cohort of patients with type 2 diabetes (ZODIAC-15).	2012	1	10.1186/1475-2840-11-138
A Dehghan	Lack of association of two common polymorphisms on 9p21 with risk of coronary heart disease and myocardial infarction; results from a prospective cohort study	2008	1
A Fedson	The association of obstructive sleep apnea with single nucleotide polymorphisms located near the CDKN2A/2B loci on chromosome 9P21	2011	1	10.1111/j.1479-8425.2011.00518.x
I. A. Lang	The Coronary Artery Disease-Associated 9p21 Variant and Later Life 20-Year Survival to Cohort Extinction	2011	3	10.1161/CIRCGENETICS.111.960146
Hu Ding	9p21 is a shared susceptibility locus strongly for coronary artery disease and weakly for ischemic stroke in Chinese Han population.	2009	5	10.1161/CIRCGENETICS.108.810226
A Fedson	The association of obstructive sleep apnea with single nucleotide polymorphisms located near the CDKN2A/2B loci on chromosome 9P21	2011	3	10.1111/j.1479-8425.2011.00518.x
Andrew R Thompson	Sequence variant on 9p21 is associated with the presence of abdominal aortic aneurysm disease but does not have an impact on aneurysmal expansion.	2009	6	10.1038/ejhg.2008.196
Abbas Dehghan	Lack of association of two common polymorphisms on 9p21 with risk of coronary heart disease and myocardial infarction; results from a prospective cohort study	2008	3	10.1186/1741-7015-6-30
C Cluett	The 9p21 myocardial infarction risk allele increases risk of peripheral artery disease in older people	2009	1	10.1161/CIRCGENETICS.108.825935
Olivier Harismendy	9p21 DNA variants associated with coronary artery disease impair interferon-γ signalling response.	2011	135	10.1038/nature09753
Aparna Amarendra Bhanushali	Variant on 9p21 Is Strongly Associated with Coronary Artery Disease but Lacks Association with Myocardial Infarction and Disease Severity in a Population in Western India	2011	2	10.1016/j.arcmed.2011.09.003
Andrew R Thompson	Sequence variant on 9p21 is associated with the presence of abdominal aortic aneurysm disease but does not have an impact on aneurysmal expansion	2009	0	10.1038/ejhg.2008.196
Björn Wahlstrand	The myocardial infarction associated CDKN2A/CDKN2B locus on chromosome 9p21 is associated with stroke independently of coronary events in patients with hypertension.	2009	4	10.1097/HJH.0b013e328326f7eb
Gijs Wd Landman	Association between 9p21 genetic variants and mortality risk in a prospective cohort of patients with type 2 diabetes (ZODIAC-15).	2012	3	-
Gong-Qing Shen	Association between four SNPs on chromosome 9p21 and myocardial infarction is replicated in an Italian population.	2008	5	-
Robin Lemmens	Variant on 9p21 strongly associates with coronary heart disease, but lacks association with common stroke.	2009	3	10.1038/ejhg.2009.42
Riyaz S Patel	The chromosome 9p21 risk locus is associated with angiographic severity and progression of coronary artery disease.	2010	8	-
D. Cugino	Type 2 diabetes and polymorphisms on chromosome 9p21: A meta-analysis	2012	9	10.1016/j.numecd.2010.11.010

Evidence compiled by the Personal Genome Project

There are no results from the Personal Genome Project yet. Please come back later.

Publications listed by Genome.gov

First Author	Title	Journal	Publication Date	Trait	p-value	Confidence Interval
Helgadottir A	A common variant on chromosome 9p21 affects the risk of myocardial infarction.	Science	05/03/2007	Myocardial infarction	1.0e-20	[1.22-1.35]

Name	rs10757278
Chromosome	9
Position	22124478
Weight of evidence	129

SNP rs10757278

Basic Information

Genotype Frequency

Allele Frequency

Additional Information

Links to SNPedia

Publications on this SNP on the Public Library of Science:

Publications on this SNP on Mendeley

Evidence compiled by the Personal Genome Project

Publications listed by Genome.gov

Users who share this SNP:

Genome Browser

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