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Thread: AIS - genetic versus environmental factors

  1. #1
    Join Date
    Jan 2008

    AIS - genetic versus environmental factors

    Short easy read from 2009 touching on so many of our recent discussion points that I will not excerpt it. This was written by Nitram's surgeon IIRC.

    Note especially how they are using "environmental factors." They are referring to genetic vagaries including "variable penetrance" and "heterogenicity" which BOTH relate to the genes. Elsewhere you can find epigenetics coming under the heading of "environmental." If anyone can find a single researcher looking at a straight germ theory model of AIS I would like to see it. I suggest there is nobody. They seem to all be working on genetics, even those studying "environmental" factors.

    A 1967 article that I cite to demonstrate how researchers use the term, "environmental".

    In this case, "environmental" = maternal age and birth order. These are definitionally (word?) genetic as far as I know. They distinguish these genetic factors from straight genetic meaning predictable mode of inheritance, NOT for any other reason.

    A 2011 abstract stating what the researchers are looking at.

    Journal of Pediatric Orthopaedics:
    January/February 2011 - Volume 31 - Issue - p S49–S52
    doi: 10.1097/BPO.0b013e318202bfe2
    Adolescent Idiopathic Scoliosis
    Idiopathic Scoliosis: Cracking the Genetic Code and What Does It Mean?

    Miller, Nancy Hadley MD*,†

    Abstract: Idiopathic scoliosis is one of the most common complex genetic disorders of the musculoskeletal system. The clinical parameters relating to onset, curve progression, and severity in relation to clinical prognosis and current treatment modalities have been defined, but do not address the cause of this disorder. In an effort to define causative genetic elements, multiple studies have delineated potential genetic loci that are statistically related to idiopathic scoliosis in a variety of populations. The question remains how future genetic testing and genomic profiling may be of aid in the therapeutic algorithms related to this disorder.

    Adolescent Idiopathic Scoliosis (AIS)

    Adolescent Idiopathic Scoliosis (AIS) is the most prevalent pediatric deformity, affecting 2-3% of the population.1-3 AIS is a disease found only in humans4 with no single known cause, making it a multi-factorial condition. A strong genetic link was long suspected in AIS due to anecdotal observations of inheritance patterns in AIS patients. It wasn’t until 1968, 15 years after Watson and Crick reported their discovery of DNA,5 that Wynne-Davies reported that AIS was indeed familial and suggested that it was caused by either dominant or multiple gene inheritance.6 This view was further supported by work performed by others over the next 40 years.7-13 Though 2 – 3% of the general population are diagnosed with AIS, only a very small percentage of those patients (1 – 4%) experience a curve progression requiring multi-level instrumentation and fusion.14 The ability to predict which curves will progress to the point of requiring surgery in patients presenting with a mild scoliotic curve (Cobb angle 10 – 25), has remained a challenging problem for decades.

    Despite the genetic aspects in idiopathic scoliosis, we assume that the development of idiopathic scoliosis is influenced multifactorially, for example, progression of the scoliotic curve can be influenced by conservative treatment.
    Last edited by Pooka1; 02-06-2011 at 12:57 PM.
    Sharon, mother of identical twin girls with scoliosis

    No island of sanity.

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

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