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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 09:06 AM.

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