Advanced Maternal Age Associated with AIS?

[Pooka1]

That's simply not going to happen in medicine.

Then they are going to keep churning out false results.

[Pooka1]

Familial scoliosis means that there are other cases of scoliosis in the family tree. Adolescent Idiopathic Scoliosis means they don't know what causes it.

So in other words, all AIS is familial. That agrees with that direct quote I posted.

[Pooka1]

Hre is an abstract showing explicitly that:

familial AIS = AIS

(emphasis added)

http://journals.lww.com/spinejournal...tor_in.21.aspx

Spine:
1 September 2003 - Volume 28 - Issue 17 - pp 2025-2028
doi: 10.1097/01.BRS.0000083235.74593.49
Genetics

Allelic Variants of Human Melatonin 1A Receptor in Patients with Familial Adolescent Idiopathic Scoliosis

Morcuende, Jose A. MD, PhD*; Minhas, Raman PhD(c)†; Dolan, Lori PhD(c)*; Stevens, Jeff PhD*; Beck, John BS†; Wang, Kai PhD‡; Weinstein, Stuart L. MD*; Sheffield, Val MD, PhD†
Supplemental Author Material
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Abstract

Study Design. A genetic study of patients with

familial adolescent idiopathic scoliosis

.

Objectives. The purpose of this study was to evaluate the evidence for linkage on chromosome 4q and determine whether mutations in the gene coding for melatonin receptor are present.

Summary of Background Data. Adolescent idiopathic scoliosis is the most common spine deformity arising during childhood, but its cause remains unknown.

The fact that adolescent idiopathic scoliosis is often seen in several members of the same family strongly suggests a genetic factor.

Recent work by Wise et al provides evidence for linkage of adolescent idiopathic scoliosis at several different chromosome sites, including 4q. In addition, there is some evidence that adolescent idiopathic scoliosis may be related to a disturbance in melatonin metabolism, and the human melatonin-1A receptor is known to be located on chromosome 4q.

Methods. Probands having clinically relevant idiopathic scoliosis (Cobb angle >30°) and their relatives were identified. Radiographic confirmation was required for a positive diagnosis. Linkage analysis was performed with 15 microsatellite markers of chromosome 4q spaced at approximately 10-cM resolution and 5 microsatellite markers surrounding the site for human melatonin receptor. The gene for human melatonin receptor was screened for mutations in the coding region using genomic DNA samples by single-strand conformational polymorphism analysis. Amplimers showing a band shift were reamplified and sequenced bidirectionally.

Results. There was no evidence for linkage at chromosome 4q in this study population. Twenty-nine individuals demonstrated aberrant single-strand conformation polymorphism band patterns, and sequence evaluation demonstrated six genetic polymorphisms for the gene for human melatonin receptor. These genetic variations were found in both affected and nonaffected individuals, and there was no correlation between gene variants and the phenotype for adolescent idiopathic scoliosis.

Conclusions. The results of this study demonstrated no evidence of linkage to chromosome 4q and no mutations in the coding region of the gene for human melatonin receptor. The identification of variants in the human melatonin receptor could provide a useful tool for testing the gene in the predisposition to various other melatonin-related disorders and for clarifying the role of melatonin in adolescent idiopathic scoliosis.

[Pooka1]

From the SRS site:

http://www.srs.org/patients/adolesce...ook/causes.php

Idiopathic scoliosis frequently runs in families and there is a growing body of evidence that genetics plays a major role.

Note the complete absence of any distinction between familial and nonfamilial AIS. Note how they are claiming all idiopathic scoliosis runs in families. That's because AIS is familial AIS. Familial AIS is probably the technical name for AIS. This is another way of saying that it is a genetic condition which is the consensus opinion of the experts.

Now I wonder what that one Weinstein paper with the ratios is supposed to mean. It doesn't mean what you claim it means. Maybe he was saying there is a first degree relative in 1/4 to 1/3 of cases but that wouldn't rule out that the rest of the cases don't have have close relatives. They would have to obtain radiographs of all relatives, living and dead to make that claim. That didn't happen. I have never seen a claim that 66 - 75% of AIS was spontaneous mutations. If/when you find several references on that, then you will have established that. Not before.

[Pooka1]

AIS is familial

Note bolded section... all AIS is familial

http://scoliscore.com/Default.aspx?a...iosis-genetics

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.

[mariaf]

just because a study was conducted doesn't make it valid...there are many flawed studies being pointed to as proving something...
and many unimpressive studies...and even more studies with small numbers of participants that try to generalize to larger populations...
jess

Great points, Jess. Most of us are intelligent enough to realize that numbers can be skewed to obtain a desired effect (such as you mention here with regard to small numbers of participants that try to generalize larger populations).

[mariaf]

Then they are going to keep churning out false results.

Exactly...

[Pooka1]

Great points, Jess. Most of us are intelligent enough to realize that numbers can be skewed to obtain a desired effect (such as you mention here with regard to small numbers of participants that try to generalize larger populations).

And even studies with a larger cohort populations can still be garbage in - garbage out as is the case of the Danish Twins study (based on their own numbers in addition to other considerations).

Good science is hard to do.

[Ballet Mom]

All the studies I have read make a distinction between familial scoliosis where other members of the family have scoliosis and idiopathic scoliosis where the person is unable to identify a single other person with scoliosis in their family lineage. Axial Biotech is the only group that doesn't. And funny thing, Axial Biotech deliberately studied familial scoliosis in order to determine the genetic tree of a group of familial cases of scoliosis from Utah that has a very homogeneous population with large families.

[Ballet Mom]

Note bolded section... all AIS is familial

http://scoliscore.com/Default.aspx?a...iosis-genetics

Adolescent Idiopathic Scoliosis (AIS)

Oh, you mean the Wynn-Davies that stated the following:

"7. In adolescent scoliosis the age of the mother is significantly raised by comparison with the expected figure for the normal population."

[Ballet Mom]

Hre is an abstract showing explicitly that:

familial AIS = AIS

(emphasis added)

http://journals.lww.com/spinejournal...tor_in.21.aspx

Spine:
1 September 2003 - Volume 28 - Issue 17 - pp 2025-2028
doi: 10.1097/01.BRS.0000083235.74593.49
Genetics

Guess what...they're deliberately studying cases of scoliosis that have other members of the family with scoliosis...commonly known as familial AIS or JIS. That is the easiest way to determine a genetic lineage, I presume, because other cases of scoliosis don't have any other family members with scoliosis to study.

[Pooka1]

Not just Axial Boiotech, ALL references including the SRS. You obviously misunderstood that one Weinstein reference.

All AIS is familial. It is perverse to deny it.

If you disagree please post several references like you state exist making a clear definitional distinction between

1. familial AIS, and

2. AIS

All AIS is familial and the consensus is it is polygeneic and multifactorial (meaning types of genetic inhertiance) as affected by environment (meaning things influencing the genetics).

That, my dear bunnies, is why that researcher stated simply, "It's all genetics." It's a succinct and accurate summary of the consensus which is not to be confused with correct.

If anyone can find a reference for a single researcher working on germ theory or anything non-genetic, I hope they post it.

[Ballet Mom]

Not just Axial Boiotech, ALL references including the SRS. You obviously misunderstood that one Weinstein reference.

All AIS is familial. It is peverse to deny it.

If you disagree please post several references like you state exist making a clear definitional distinction between

1. familial AIS, and

2. AIS

All AIS is familial and the consensus is it is polygeneic and multifactorial (meaning types of genetic inhertiane) as affected by environment (meaning things influencing the genetics).

That, my dear bunnies, is why that researcher stated simply, "It's all gentics." It's a succinct and aaccurate summary of the consensus whhcis not to be confused with correct.

If anyone can find a reference for a single reseraher working on germ theory or anything non-genetic, I hope they post it.

I don't even know what Weinstein quote you're talking about. I'm talking about all the studies I have read over these years.

[Pooka1]

I don't even know what Weinstein quote you're talking about. I'm talking about all the studies I have read over these years.

You misunderstood them. The distinction you are making does not come from the researchers. It comes from your misunderstandind the terminology.

If you disagree, please posts a few refernces clearly defining "familial AIS" separate from "AIS".

[Pooka1]

I don't even know what Weinstein quote you're talking about.

Exactly.

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