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View Full Version : Chromosome 9 CDKN2B-AS1 Heart Disease linked SNPs



jeanL
08-11-2013, 04:07 PM
Rs1333049 (http://www.snpedia.com/index.php/Rs1333049)

Significance:

Geno--Mag-----------------Summary
(C;C)---4--------------1.9x increased risk for CAD
(C;G)---3--------------1.5x increased risk for CAD
(G;G)---0----------------------normal

Genotypes:

Paternal Grandfather:CC
Father:CG
Morther:CG

Rs2383206 (http://www.snpedia.com/index.php/Rs2383206)

Significance:

Geno--Mag-------------------Summary
(G;G)------3---------1.7x increased risk for heart disease
(A;G)------2---------1.4x increased risk for heart disease
(A;A)------0---------------------normal


rs10757274 (http://www.snpedia.com/index.php/Rs10757274) and rs2383206 can double the risk of heart disease[1 (http://www.sciencemag.org/content/316/5830/1488.short)].About one in every four Caucasians are thought to carry the gene variants.

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 (http://www.ncbi.nlm.nih.gov/pubmed/19033013?dopt=Abstract)]


Genotypes:

Paternal Grandfather:GG
Father:AG
Morther:AG

Rs10757278 (http://www.snpedia.com/index.php/Rs10757278)

Significance:

Geno--Mag---------------------Summary
(G;G)-----2.1----------1.6x increased risk for Myocardial Infarction
(A;G)------2-----------1.4x increased risk for Myocardial Infraction
(A;A)------0-----------------------normal


The risk allele, rs10757278(G), shows an increased association for myocardial infarctions ("MI"; heart attacks) both in general and more specifically in so-called early onset MI. The odds ratio relative to rs10757278(A:A) "noncarrier" individuals for rs10757278(G;G) individuals is 1.64 (CI: 1.47-1.82), and for carriers of one risk allele, i.e. rs10757278(A;G) individuals, 1.26 (CI: 1.16-1.36). [PMID 17478679 (http://www.ncbi.nlm.nih.gov/pubmed/17478679?dopt=Abstract)]

For early onset MI, the odds are slightly higher; homozygote rs10757278(G;G) individuals have an odds ratio of 2.02 (CI: 1.72-2.36), heterozygote rs10757278(A;G) individuals 1.49 (CI: 1.31-1.69) compared to noncarriers. To put it another way, men under the age of 50 and women under the age of 60 who are rs10757278(G:G) individuals have about twice the risk of having a heart attack compared to rs10757278(A:A) individuals. [PMID 17478679 (http://www.ncbi.nlm.nih.gov/pubmed/17478679?dopt=Abstract)]



Genotypes:

Paternal Grandfather:GG
Father:AG
Morther:AG

Rs2383207 (http://www.snpedia.com/index.php/Rs2383207)

Significance:

Geno--Mag----------------Summary
(G;G)-----2.1-----------increased risk for heart disease
(A;G)------2------------increased risk for heart disease
(A;A)------0------------------normal


[PMID 18048766 (http://www.ncbi.nlm.nih.gov/pubmed/18048766?dopt=Abstract)] This SNP was also associated with increased risk for coronary artery disease in a Korean population.

The association remained significant after adjusting for significant clinical covariates (P=0.001 to 0.024). We identified one risk haplotype (GGGG; P=0.017) and one protective haplotype (AAAA; P=0.007) for development of CAD. Further analysis suggested that the SNPs probably confer susceptibility to CAD in a dominance model (covariates-adjusted P=0.001 to 0.024; OR=2.37 to 1.54).


Genotypes:

Paternal Grandfather:GG
Father:AG
Morther:AG

Rs10757274 (http://www.snpedia.com/index.php/Rs10757274)

Significance:

Geno--Mag---------------Summary
(G;G)-----2.1-------~1.3 increased risk for heart disease
(A;G)------2--------~1.2 increased risk for heart disease
(A;A)------0------------------normal




[PMID 18957718 (http://www.ncbi.nlm.nih.gov/pubmed/18957718?dopt=Abstract)] rs10757274, rs2383206, rs1333049 haplotype associated with early-onset CHD (p=7.9 x 10(-7))

[PMID 19901189 (http://www.ncbi.nlm.nih.gov/pubmed/19901189?dopt=Abstract)] A study of 492 sudden and/or arrhythmic deaths and 1460 matched controls concluded that each rs10757274(G) allele conferred an odds ratio of about 1.3 for sudden cardiac death (p=0.003-0.001).



Genotypes:

Paternal Grandfather:GG
Father:AG
Morther:AG

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Comments:

Given that I have yet to test myself, I can only go by probabilities, so I have 1/4 or 25% chance of being "Normal", 1/2 or 50% chance of being heterozygous, and 1/4 or 25% chance of being homozygous at risk. Yikes!!!