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Thread: Chromosome 9 CDKN2B-AS1 Heart Disease linked SNPs

  1. #1
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    North Florida
    Ethnicity
    Pred.Iberian/Italian
    Nationality
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    Y-DNA (P)
    R1b-Z279(xM153)
    mtDNA (M)
    L2a1a3c

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    Chromosome 9 CDKN2B-AS1 Heart Disease linked SNPs

    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

    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 and rs2383206 can double the risk of heart disease[1].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]
    Genotypes:

    Paternal Grandfather:GG
    Father:AG
    Morther:AG

    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]

    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]
    Genotypes:

    Paternal Grandfather:GG
    Father:AG
    Morther:AG

    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] 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

    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] rs10757274, rs2383206, rs1333049 haplotype associated with early-onset CHD (p=7.9 x 10(-7))

    [PMID 19901189] 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

    //////////////////////////////////////////////////////////////////////////////////////////////////////////////////////////////////////////////

    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!!!
    Last edited by jeanL; 08-11-2013 at 04:10 PM.

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