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    Gene Associated With Adolescent Idiopathic Scoliosis Identified

    Sciencedaily: Gene Associated With Adolescent Idiopathic Scoliosis Identified

    Researchers from the RIKEN Center for Integrative Medical Sciences in Japan have identified the first gene to be associated with adolescent idiopathic scoliosis (also called AIS) across Asian and Caucasian populations. The gene is involved in the growth and development of the spine during childhood.

    Their study is published today in the journal Nature Genetics.

    AIS is the most common pediatric skeletal disease, affecting approximately 2% of school-age children. The causes of scoliosis remain largely unknown and brace treatment and surgery are the only treatment options. However, many clinical and genetic studies suggest a contribution of genetic factors.

    To understand the causes and development of scoliosis, Dr Ikuyo Kou, Dr Shiro Ikegawa and their team have tried to identify genes that are associated with a susceptibility to develop the condition.

    By studying the genome of 1,819 Japanese individuals suffering from scoliosis and comparing it to 25,939 Japanese individuals, the team identified a gene associated with a susceptibility to develop scoliosis on chromosome 6. The association was replicated in Han Chinese and Caucasian populations.

    The researchers show that the susceptibility gene, GPR126, is highly expressed in cartilage and that suppression of this gene leads to delayed growth and bone tissue formation in the developing spine. GPR126 is also known to play a role in human height and trunk length.

    "Our finding suggest the interesting possibility that GPR126 may affect both AIS susceptibility and height through abnormal spinal development and growth," explain the authors.

    "Further functional studies are necessary to elucidate how alterations in GPR126 increase the risk of AIS in humans," they conclude.
    Most of these genes are later found to be false flags. Time will tell. However it's theoretically possible that this and/or many other genes either raise or lower the risk of developing Scoliosis.

    The largest twin study ever conducted found that if one identical twin had Scoliosis the other had an increased risk. However only about 1 in 10 co-twins developed Scoliosis. Genes play a limited role in determining which child gets Scoliosis.
    Heritability of scoliosis.
    Self-reported data on scoliosis from 64,578 twins in the Swedish Twin Registry were analysed. Prevalence, pair- and probandwise concordances and tetrachoric correlations in mono- and dizygotic same-sex twins were calculated.
    The prevalence of scoliosis was 4%. Pair- and probandwise concordance was 0.11/0.17 for mono- and 0.04/0.08 for same-sex dizygotic twins. The tetrachoric correlation (95% CI) was 0.41 (0.33-0.49) in mono- and 0.18 (0.09-0.29) in dizygotic twins. The most favourable model in the Mx analyses estimated the additive genetic effects (95% CI) to 0.38 (0.18-0.46) and the unique environmental effects to 0.62 (0.54-0.70). Shared environmental effects were not significant. The pairwise/probandwise concordance for idiopathic scoliosis in the Swedish Inpatient Register was 0.08/0.15 for monozygotic and zero/zero for same-sex dizygotic twins.
    Using self-reported data on scoliosis from the Swedish Twin Registry, we estimate that 38% of the variance in the liability to develop scoliosis is due to additive genetic effects and 62% to unique environmental effects. This is the first study of sufficient size to make heritability estimates of scoliosis.
    This paragraph about Multiple Sclerosis comes to mind.

    University of California San Francisco | UCSF Benioff Children's Hospital - Multiple Sclerosis Genetics Group
    Scientists believe that genes, the fundamental hereditary units, play a role in determining who is at risk for developing MS, how the disease progresses and how someone responds to therapy. The group believes that genes associated with MS are not themselves abnormal. Rather, they include some variations that may or may not be common in the population. Some of these variations may be advantageous to have. However, in some combinations these normal genes appear to predispose some individuals to develop MS after exposure to an undefined environmental factor or factors.
    Last edited by Dingo; 05-13-2013 at 10:06 AM.

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    Researchers from the RIKEN Center for Integrative Medical Sciences in Japan have identified the first gene to be associated with adolescent idiopathic scoliosis (also called AIS) across Asian and Caucasian populations.
    This is very interesting. Were the potential scoliosis genes identified here in the United States only found in the race used by the researchers and not other races?

    Updated on 5/18/2013

    I am updating my own information I found regarding my own question here because this thread had been buried as usual and no one could possibly find the information unless they wanted to spend centuries listening to useless and pointless commentary.

    Ward K: Comparing apples and oranges: pathogenesis of adolescent idiopathic scoliosis varies by patient ancestry. In Scoliosis Research Society 47rdAnnual Meeting and Course, Chicago, Illinois, USA, September 5-8th. 2012, 90.


    Prognostic testing cannot be applied to all racial groups without modification

    In the USA, Ward [148] compared DNA samples from AIS patients with controls from Asian and African ancestry. DNA markers were related to AIS progression and vary by race. Differences in gene variants will translate into differences in the underlying chemistry of AIS causing different clinical expression.

    So apparently, perhaps the Japanese researchers in the study posted above may have found a more universal gene possibility than at least the Utah Scoliscore researchers. Interesting.

    I am not going to spend the time to try and research the Texas gene results. Life's too short and apparently no one is very interested.
    Last edited by Ballet Mom; 05-18-2013 at 01:08 PM.

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    Quote Originally Posted by Ballet Mom View Post
    This is very interesting. Were the potential scoliosis genes identified here in the United States only found in the race used by the researchers and not other races?
    I'm sure, at least in this country, the random studies included all races. We are a melding pot of races in this country.
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    Quote Originally Posted by rohrer01 View Post
    I'm sure, at least in this country, the random studies included all races. We are a melding pot of races in this country.
    Perhaps you'd like to explain why the study that Dingo listed makes a point to say that it's the first gene to be associated with scoliosis across Caucasian and Asian races. That's what I'm asking. There's a reason they're stating that.

    Do you actually know anything about what families were used in the Texas scoliosis gene studies?

    It's funny to say that anyway when you know that Utah was picked deliberately for the Scoliscore gene researchers and it is an unusually uniracial area.
    Last edited by Ballet Mom; 05-13-2013 at 01:55 PM.

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    The study that Dingo posted probably tested Caucasian and Asian populations (limited study).

    I don't know about the Texas study.

    The Scoliscore study group was not limited to people living in Utah. I was in that study and I've never lived in Utah. I am of Mormon ancestry, but the developers of that study had no way of knowing that.
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    Quote Originally Posted by rohrer01 View Post
    The study that Dingo posted probably tested Caucasian and Asian populations (limited study).

    I don't know about the Texas study.

    The Scoliscore study group was not limited to people living in Utah. I was in that study and I've never lived in Utah. I am of Mormon ancestry, but the developers of that study had no way of knowing that.
    I didn't need to be told that the researchers tested both races. That is pretty obvious.

    I am more interested in the possibility that the genes discovered here in the United States weren't traceable to other races when they tried to replicate the study. Perhaps that makes the genes not universal to scoliosis and maybe they identified something unique to a specific race. Maybe the US researchers just haven't replicated the study with Asian races at this point to see if it affects them also. Who knows.

    The Utah researchers specifically wanted Mormons to use in their study due to their genealogical records so they could trace back the family tree. Maybe that's how you were included in their study.

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    Quote Originally Posted by Ballet Mom View Post
    This is very interesting. Were the potential scoliosis genes identified here in the United States only found in the race used by the researchers and not other races?

    Updated on 5/18/2013

    I am updating my own information I found regarding my own question here because this thread had been buried as usual and no one could possibly find the information unless they wanted to spend centuries listening to useless and pointless commentary.

    Ward K: Comparing apples and oranges: pathogenesis of adolescent idiopathic scoliosis varies by patient ancestry. In Scoliosis Research Society 47rdAnnual Meeting and Course, Chicago, Illinois, USA, September 5-8th. 2012, 90.


    Prognostic testing cannot be applied to all racial groups without modification

    In the USA, Ward [148] compared DNA samples from AIS patients with controls from Asian and African ancestry. DNA markers were related to AIS progression and vary by race. Differences in gene variants will translate into differences in the underlying chemistry of AIS causing different clinical expression.

    So apparently, perhaps the Japanese researchers in the study posted above may have found a more universal gene possibility than at least the Utah Scoliscore researchers. Interesting.

    I am not going to spend the time to try and research the Texas gene results. Life's too short and apparently no one is very interested.

    I have updated information regarding the actual topic of this original post by Dingo. I am placing it in my original question so anyone interested might actually find the information.
    Last edited by Ballet Mom; 05-18-2013 at 01:12 PM.

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    Dingo,
    If it's a germ, then both mono- and dizygotic twins would have a very high rate of concordance. They share everything from the womb onward, unless they are separated at birth. As mentioned before, they need to look at male monozygotic twins because of X inactivation, or at least take that into account. Heredity is very complicated in humans because it has a lot to do with how gene products interact with one another. Sometimes it's not as simple as you have it or you don't. Yes, environmental factors do have an impact on how gene products interact.

    A "gene" is just a code of DNA and the term is loosely being thrown around to mean more than it does. It means nothing unless it is transcribed and made into a gene product (protein for example). There could be something wrong or interfering with the transcription process that "causes" disease. This could be an infinite number of things since each cell is its own "machine".

    Your point is?
    Last edited by rohrer01; 05-13-2013 at 04:22 PM.
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    Quote Originally Posted by rohrer01 View Post
    Dingo, If it's a germ, then both mono- and dizygotic twins would have a very high rate of concordance.
    Scoliosis typically begins in adolescence. Kids run into a lot of "environment" between conception and adolescence.

    If Scoliosis is triggered by infectious disease during childhood identical twins should probably be discordant most of the time and the research suggests that they are.

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    Quote Originally Posted by Dingo View Post
    Scoliosis typically begins in adolescence. Kids run into a lot of "environment" between conception and adolescence.

    If Scoliosis is triggered by infectious disease during childhood identical twins should probably be discordant most of the time and the research suggests that they are.
    We'll have to agree to disagree on that one. When childhood infectious diseases are caught, all people living in the same household are exposed. This would increase the likelihood that more family members would contract the scoliosis causing pathogen and develop scoliosis. We see scoliosis in distinct, definable patterns of heredity.

    Identical twins consistently show more concordance than dizygotic twins. The thing about identical twins that people seem to forget or not understand is that when the zygote splits, they become two separate individuals and have their own individual patterns of gene expression. Science hasn't come to the point where it is fully understood what all the mechanisms are that turn certain genes "on" or leaves them "off". Just because identical twins have the same genetic start does not mean that development is identical. There can be a lot more variance with one set of DNA than many people think. For example, one twin may be larger or smaller than the other, they may be mirror images of each other, and there are degrees of separation right down to conjoined twins. This is why there isn't 100% concordance in identicals. BUT the concordance is significantly higher, suggesting that genetics is definitely playing a strong role.

    What we don't know is what triggers certain genes to produce either defective "proteins" OR not produce a necessary "protein". I use the word protein loosely to represent the gene product. It could be something internally wrong with the cell machinery itself (no external trigger) or something causing interference in the cell machinery such as radiation, toxins, viruses, fungi, amoebas, bacteria, or even something like stress which can produce hormone imbalances (external triggers). It just stands to reason that if it is a contagious pathogen, there would be more epidemic-like patterns to this disease rather than seeing it in about 2% of the population straight across the board.
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    rohrer,

    I have lurked for a long time but rarely posted. It seems like a lost effort to argue reason or science with dingo. It seems very clear to me he is absolutely desperate to not be to blame for his son's scoliosis. He has to find another etiology that exonerates his genetic contribution to his son.

    I have followed dingo's outrageous arguments -- it will do no good to argue science and reason with him. He exists in his own scoliosis reality.

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    Quote Originally Posted by SpiderPug View Post
    rohrer, I have lurked for a long time but rarely posted. It seems like a lost effort to argue reason or science with dingo. It seems very clear to me he is absolutely desperate to not be to blame for his son's scoliosis. He has to find another etiology that exonerates his genetic contribution to his son. I have followed dingo's outrageous arguments -- it will do no good to argue science and reason with him. He exists in his own scoliosis reality.
    It looks like somebody whose name rhymes with KOOKA has 2 accounts. 8-)

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    Quote Originally Posted by SpiderPug View Post
    rohrer,

    I have lurked for a long time but rarely posted. It seems like a lost effort to argue reason or science with dingo. It seems very clear to me he is absolutely desperate to not be to blame for his son's scoliosis. He has to find another etiology that exonerates his genetic contribution to his son.

    I have followed dingo's outrageous arguments -- it will do no good to argue science and reason with him. He exists in his own scoliosis reality.
    If those are the kind of comments you like to do, continue posting rarely or better stop for ever.. nobody will miss your posts here.

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    Quote Originally Posted by SpiderPug View Post
    rohrer,

    I have lurked for a long time but rarely posted. It seems like a lost effort to argue reason or science with dingo. It seems very clear to me he is absolutely desperate to not be to blame for his son's scoliosis. He has to find another etiology that exonerates his genetic contribution to his son.

    I have followed dingo's outrageous arguments -- it will do no good to argue science and reason with him. He exists in his own scoliosis reality.
    Thank you, I think, for the support. I say that because I do try to discuss these things with Dingo, perhaps to my own chagrin. However, in Dingo's defense, I have learned some really interesting things from his research. Things like the melatonin pathway being disrupted and another pathway disruption that I don't recall off hand. These all point to heredity as playing a key role, probably to Dingo's chagrin.
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    Quote Originally Posted by hdugger View Post
    I'm not a psychologist, but I do have a masters degree. In science

    If we're going to hypothesize about psychological motivations, I suspect that a parent would feel *more* responsible for exposing their child to an infectious agent (something which they can avoid) then they would for passing on genetic material for a disease which did not apparently run in their family (something which would appear unavoidable).
    Out of curiosity, what field of science? I'm pretty sure that Pooka1 has a Ph.D. in science, yet admits she's no expert in biology or genetics.

    I don't know if I agree 100% about which makes a parent feel more guilty. When I learned that my kids had scoliosis, I felt pretty bad. When they got really sick I felt really scared, not guilty in the sense that I caused it. My daughter-in-law has a pretty severe scoliosis and had to be fused at age 16. She cried a lot of tears before marrying my son, who "had" JIS, because she wants children and is afraid they will have scoliosis.

    Your son's scoliosis probably happened during embryonic development. Just a fluke mistake during that critical time when the fold forms down the center of the embryo. Progression probably happened as a result of the hemi being present. I'm doubting that you have a family history of scoliosis. If you do, that puts a new twist on congenital scoliosis, at least in my mind since I don't know much about it. I think Dingo is primarily arguing idiopathic scoliosis.
    Be happy!
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