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Thread: Polygenic Inheritance of AIS

  1. #61
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    Quote Originally Posted by skevimc View Post
    And I still nose around here from time to time.

    I haven't been able to follow either argument very well. Anecdotally, several patients in my study had a first or second degree relative with scoliosis. Usually their mom or aunt. Seems like having scoliosis doesn't guarantee that your child will get it, but if you take a child that has it and look 'upstream' you can probably find something. The problem with genetics and scoliosis seems to be that passing 'something' on is so nebulous. That something could be anything and could effect any organ system. It gets too over my head too quickly for me to be able to follow it with any vigor.
    I suggest only geneticists specializing in this field perhaps can follow and rationally discuss it.

    This is complex. Anyone who can't argue both sides of that one article I posted shouldn't be discussing it in my opinion and that includes me.

    The most defensible idea at this point seems to be the sentence I highlighted from that article...

    Finally, we conclude that it will only be possible to distinguish between the CRisch, Odds and Probit models in practice if genetic risk profiles are able to reconstruct the majority of the known genetic variance; this is unlikely for the foreseeable future.
    There is almost always more that is unknown when it comes to this kind of stuff. And it just keeps getting larger.
    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. #62
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    my argument

    Skevimc

    I haven't been able to follow either argument very well.
    My main point is that Scoliosis is far too common to be a genetic disease. If it hit old people I might have a different opinion but childhood genetic diseases are always rare or at least regional. There probably is a genetic susceptability much like what scientists have found in MS and Type 1 Diabetes. However some sort of environmental damage triggers the disease. Since the problem resides in the nervous system I assume the environmental trigger is a pathogen but obviously it could be anything.

    My worldview predicts that if scientists do a large twin study it will produce relatively low twin concordance. Time will tell.

    After my son was diagnosed with Scoliosis I began to read a lot about all sorts of diseases. It's crazy how many diseases that we used to think were caused by heredity or lifestyle are now being pinned on pathogens.

    High Blood Pressure Could Be Caused By A Common Virus, Study Suggests
    Last edited by Dingo; 05-06-2010 at 10:38 PM.

  3. #63
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    "Science is what we do to keep us from lying to ourselves." -- Richard Feynman, Nobel Physicist and genius
    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. #64
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    Quote Originally Posted by LindaRacine View Post
    Am J Med Genet A. 2010 May;152A(5):1178-88.
    Polygenic inheritance of adolescent idiopathic scoliosis: a study of extended families in Utah.

    Ward K, Ogilvie J, Argyle V, Nelson L, Meade M, Braun J, Chettier R.

    Axial Biotech, Inc., Salt Lake City, Utah 84109, USA. ken.ward@axialbiotech.com
    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. Copyright 2010 Wiley-Liss, Inc.
    I reread this. I don't know why, but I did. I come now to the conclusion that "Mormon" is becoming an ethnicity. Read the Title of the study. So, for those of you with ancestors that were Mormon (or if you are Mormon by family, not a convert), I would be very diligent about watching your children for AIS.

    This has to be a different study by Axial Biotech than the one I took part in. I don't recall too many family related questions, and I certainly wasn't able to tell them of all of my family members that have it. But neither one of my parents have it, so that really doesn't fit with the "dominant" pattern that they describe here. Thus the polygenic nature of this. Not all AIS is dominant, unless my father has it and none of us knows about it (which is a likely factor since, to my knowledge, he has never been checked or X-rayed). It was my father's mother who had it AND a maternal aunt has kyphyscoliosis, which is different than the rest of us. I have a niece who has AIS and a daughter who is affected, but those conducting the study that I participated in do not know this about my family. I also have a STRONG heritage in Mormonism (is that how you say it?) even though I myself am not, although I was raised as a Mormon. My heredity in that church goes back to the founding fathers and I have AIS. I think they should pursue this further. I'm not being prejudiced here, it happened to the Jewish population with Tay-Sachs.

    How do you define an ethnicity, anyway? Is it when traits or diseases develop that are not common to the rest of the human population? I guess I would need to do some research on that one, unless there is someone on here who knows?

    Here's what Wikipedia has to say about Tay-Sachs:

    "Research in the late 20th century demonstrated that Tay-Sachs disease is caused by a genetic mutation on the HEXA gene on chromosome 15. A large number of HEXA mutations have been discovered, and new ones are still being reported. These mutations reach significant frequencies in several populations. French Canadians of southeastern Quebec have a carrier frequency similar to Ashkenazi Jews, but they carry a different mutation. Many Cajuns of southern Louisiana carry the same mutation that is most common in Ashkenazi Jews. Most HEXA mutations are rare, and do not occur in genetically isolated populations. The disease can potentially occur from the inheritance of two unrelated mutations in the HEXA gene."

    So apparently it is NOT isolated to the Jewish population, as we know that AIS is NOT isolated to the Mormon population. However, being Jewish does put a family at risk for having an TSD affected child. So the question goes, does being Mormon put a family at risk for having an AIS affected child? It would be interesting to know if the incidence of AIS is higher in the Mormon population.

    I might be talking myself in circles here, but why would they take a sample from Utah, knowing that I believe around 40% of that state is Mormon (I got this figure from my brother-in-law who is Mormon and lives in Utah)?

  5. #65
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    I wish I could get in on this study, if only as a grunt laborer... Moving to Utah wouldn't be too bad. It's pretty there.

  6. #66
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    Quote Originally Posted by rohrer01 View Post
    I reread this. I don't know why, but I did. I come now to the conclusion that "Mormon" is becoming an ethnicity. Read the Title of the study. So, for those of you with ancestors that were Mormon (or if you are Mormon by family, not a convert), I would be very diligent about watching your children for AIS.
    They only studied families with known AIS, so there's no way to know the prevalence of scoliosis in Mormons, at least not from this abstract.

  7. #67
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    Quote Originally Posted by LindaRacine View Post
    They only studied families with known AIS, so there's no way to know the prevalence of scoliosis in Mormons, at least not from this abstract.
    They should ask the families.

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