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Thread: Excellent discussion on genetic, genetic susceptibility, etc. in disease

  1. #1
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    Excellent discussion on genetic, genetic susceptibility, etc. in disease

    http://books.google.com/books?id=xKC...isease&f=false

    The introduction hits on several points that have been discussed on the forum and I think clear up many semantic issues.

    There is a spectrum from strict genetic control to strict environmental control. Most diseases fall in-between. Various approaches can be used and various types of evidence can be adduced to place a disease on that spectrum. Much needs to be considered and there are sometimes known and unknown confounders. This is clearly a game for experts in this field.

    I will try to figure out if there is a consensus on where AIS stands on that continuum and if so what it is.
    Sharon, mother of identical twin girls with scoliosis

    No island of sanity.

    Question: What do you call alternative medicine that works?
    Answer: Medicine


    "We are all African."

  2. #2
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    Multifactorial, penetrance, and allele frequency

    http://www.nature.com/scitable/topic...ic-disease-919

    The more I research this the more I will find. This is a huge field of knowledge and is not my field.
    Sharon, mother of identical twin girls with scoliosis

    No island of sanity.

    Question: What do you call alternative medicine that works?
    Answer: Medicine


    "We are all African."

  3. #3
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    More molecular mumbo-jumbo consistent with polygenetic and multifactorial

    http://onlinelibrary.wiley.com/doi/1...g.a.33145/full

    Polygenic inheritance of adolescent idiopathic scoliosis: A study of extended families in Utah†

    1. Kenneth Ward1,*,
    2. James Ogilvie1,
    3. VeeAnn Argyle1,
    4. Lesa Nelson1,
    5. Mary Meade1,
    6. John Braun2,
    7. Rakesh Chettier1

    Abstract

    A heritability study of 69 extended Utah families with a history of adolescent idiopathic scoliosis (AIS) indicates that AIS is a polygenic, multifactorial condition. Each family reported a history of AIS within four generations; a total of 247 individuals were confirmed via X-rays and medical records to have AIS. Coefficient of kinship was more than 25 standard deviations higher for these 69 families than for the general population. Excluding all probands and assuming autosomal dominant inheritance, 1,260 individuals over the age of 16 were determined to be at risk for AIS because they have a parent with AIS. Assuming 50% of these individuals carry the allele, estimated penetrance in at-risk males is approximately 9%, and estimated penetrance in at-risk females is approximately 29%. Recurrence risk in relatives decreases as the degree of relationship to the affected individual becomes more distant; however, the lowest recurrence risk calculated, for third-degree relatives, is still an average of 9%, well above the general population's risk. Onset of AIS appears to be inherited separate from curve pattern and severity. In a study of phenotypes in 36 of the families, the affected individuals were consistent in either curve severity or curve pattern, but not both. It is unclear whether severity or pattern is more heritable, but it is possible that the location of the curve on the spine is the most heritable trait of the phenotype. The study demonstrates the genetic complexity of AIS, including the low penetrance of its cumulative alleles and variable expression. © 2010 Wiley-Liss, Inc.
    I think epigenetics (gene-directed methylation of certain genes, chromatin association of certain genes, gene copy number, etc. etc. etc.) can be suggested to explain some of this but I'm just spitting in the wind now. When identical twins can differ in terms of epigenetics and when we observe that when one identical twin has scoliosis that only ~75% (not 100%) of identical twin pairs both have scoliosis and that they can have different curve trajectories... given all that it seems epigenetics might provide a likely avenue of explanation.
    Sharon, mother of identical twin girls with scoliosis

    No island of sanity.

    Question: What do you call alternative medicine that works?
    Answer: Medicine


    "We are all African."

  4. #4
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    reposting necessary
    Sharon, mother of identical twin girls with scoliosis

    No island of sanity.

    Question: What do you call alternative medicine that works?
    Answer: Medicine


    "We are all African."

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