Gene Associated With Adolescent Idiopathic Scoliosis Identified

[Dingo]

Like I mentioned before, I believe that the term "idiopathic" will eventually be done away with and each case will be classified into the category of which it's original etiology came from. Not every case of scoliosis is idiopathic. We know that already. Right now it's called idiopathic for those for whom they haven't discovered the underlying cause.

I guess it's true if you say so. Idiopathic scoliosis isn't idiopathic.

Again, scoliosis. There's all sorts of research papers cited on the forum, including the one you posted.

And you are holding strong that it's caused by heredity.... which I guess is why you don't think idiopathic Scoliosis is idiopathic.

I know when I'm licked. I give up. 8-)

[flerc]

There are medical engineers.

They has nothing to do with what I'm refering. Is a way to denominate people playing the role of engineers in medicine

[flerc]

That would be picking on an individual or individuals at a personal level rather than discussing ideas. So, no, I won't be more specific.

You should.

[Dingo]

Rohrer01
You seem like you've got a pretty good handle on how biology works.

So I need to ask again.

Other than "idiopathic Scoliosis" in humans do you know of any other bone deformity diseases caused by heredity that hit 3% of ANY SPECIES OF MAMMAL ON PLANET EARTH? If so post a link, I'd like to read about it.

Or alternately is "idiopathic Scoliosis" the only confirmed, genetic, bone deformity disease that hits 3% of a population?

[Pooka1]

How researchers talk about enviromental factors

http://www.scoliosisjournal.com/content/6/1/26

Compare and contrast that with how lay people discuss environmental "damage."

Also, here's how researchers discuss twinning as it relates to IS... compare and contrast this with how lay people discuss this subject.

MZ twins have been used to demonstrate the role of environmental factors in determining complex diseases and phenotypes, but the true nature of the phenotypic discordance remains poorly understood [24,50]. In AIS, concordance rates in MZ twins are 0.73-0.92 [88,91,92] with lower figures of 0.13 and 0.10 reported respectively from the Danish Twin Registry [93] and Swedish Twin Registry [94]. These findings are quite surprisingly different, and suggest that variation in diagnostic criteria is important in the results of these studies [Armour J personal communication]. The Swedish Twin Registry study revealed a unique environment effect of 0.60 [94] suggesting environmental factors are important in the etiology of AIS from different intrauterine environments [88]. In 32 MZ twins, van Rhijn et al [95] found several parameters - gender, direction of convexity, apical level and kyphotic angle - were determined more by genetic factors than the lateral Cobb angle, suggesting that curve severity may be affected by the environment. Mirroring of curves was found in each of two MZ twin sets with idiopathic scoliosis [88,96]. In another MZ twin pair concordant for AIS, the twins had different apical levels, curve magnitudes, and age at detection which stress the importance of environmental (non-genetic) factors in etiopathogenesis [97].

Most papers I have seen state the concordance between MZ twins is the figure stated here... 0.73-0.92. They usually mention the Scandinavian twins studies just out of a sense of completeness. Some papers don't mention the Danish and Swedish studies because they are clearly fallacious. This ALWAYS reminds me of how mad a colleague of mine got when some paper got published in our field that was clearly aberrant for an obvious reason and then everyone had to bring it up just to shoot it down. Same here with the falsely low concordance rate for MZ twins in the Danish and Swedish studies.

Finally, I have posted a paper showing that twins studies are probably not a good model for midline disorders or actually any disorder for several reasons. That routinely goes over the head of a few lay folks around here who constantly cite twins studies despite the fact that it is quite accessible to lay folks in my opinion. The reason is lay folks START with the conclusion and only pull papers and misunderstand other papers so as to support that conclusion. That would be okay if the conclusion just happened to be correct but it never is.

[Pooka1]

Rohrer01
You seem like you've got a pretty good handle on how biology works.

So I need to ask again.

Other than "idiopathic Scoliosis" in humans do you know of any other bone deformity diseases caused by heredity that hit 3% of ANY SPECIES OF MAMMAL ON PLANET EARTH?

Congenital is not 3%. That is the only form that starts as a bone deformity. The discs wedge first in IS. My kids got to almost 60* with no bone deformity.

[Dingo]

In my cursory look, sickle cell anemia is the only non-rare one (at least in Africa, where it's 2% of newborns). But sickle cell has a protective function for malaria, so it makes it much harder to evaluate.

Sometimes a genetic disorder can become common in a region or racial group. Sickle Cell is a good example. Tay-Sachs is common in Jews but you won't find it in China.

Cystic Fibrosis hits Europeans hard. Scientists have theorized that having one copy of the mutation helps protect against plague which is why it's a common disease among people from central and southern Europe.

Although technically a rare disease, cystic fibrosis is ranked as one of the most widespread life-shortening genetic diseases. It is most common among nations in the Western world. An exception is Finland, where only one in 80 people carry a CF mutation. In the United States, 1 in 4,000 children are born with CF. In 1997, about 1 in 3,300 caucasian children in the United States was born with cystic fibrosis. In contrast, only 1 in 15,000 African American children suffered from cystic fibrosis, and in Asian Americans the rate was even lower at 1 in 32,000.

Like the article says Cystic Fibrosis is one of the most common life shortening, genetic diseases in the world and in America it hits just 1 in 3,000 Caucasian children at the high end and 1 in 32,000 Asian children at the low end. Like Sickle Cell it probably exists because it helps protect against infectious disease.

That's common for a genetic disorder. Scoliosis is 100 times more common in European Americans and 1,000 times more common in Asian Americans.

[flerc]

I agree with you completely flerc. Those kind of posts have been around for a long time and they are absolutely pointless.

Certainly I cannot understand how may be such kind of people here.. or I don't want to understand.. And what we may say about people supporting or defending them!. We allways must to remember that all the evil in the world is not only because all bad people but (mainly?) because the good people allowing them to do what they do.

By the way, I want to commend you on your English skills. They have improved SO much over the past few years. Kudos to you! :-)

Thanks, may be because now I'm reading and trying to understand what I write before posting it.
Is ever good to see you here.

[rohrer01]

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.

I understand your logic and can honestly say that I have not read those studies so am not qualified to comment on them.

I am qualified to comment on the Scoliscore study since I was in it. There was no questionnaire about ancestry. The most they could have found out from my medical records is that I am Caucasian. NOWHERE in my medical records does it state that I am from Mormon ancestry. I'm actually such a Heinz 57 that I really can only go by my actual skin color. I have a LOT of Cherokee, too.

[rohrer01]

However, if muscular dystrophy and color blindness *were* hereditary, muscular dystrophy would fall into the "rare" disease category, and color blindness would fall into the "doesn't decrease procreation" category.

So, I don't actually think he's saying anything kooky here. I more think that people are so primed to the idea that he's about to say something kooky that they misread.

Muscular Dystrophy and Color Blindness (very common) are hereditary. All genetic diseases are mutations. Sickle Cell Anemia is a mutation that serves a good purpose when a person carries one defective allele and one normal allele because it protects against Malaria. When someone inherits both defective alleles it is fatal. The point is that these diseases are present from conception forward. These are examples of straight forward inheritance, not genetic + environment.

Mental illnesses are often genetic + environment disorders. So, yes, it is well documented that these types of diseases do occur. I'm not arguing that point at all. It's just what you define as environment could be a multitude of things.

Saying that inherited diseases only occur in old people if it doesn't meet the other two criteria that he stated is false. That's the point of my comment.

[rohrer01]

Rohrer01
You seem like you've got a pretty good handle on how biology works.

So I need to ask again.

Other than "idiopathic Scoliosis" in humans do you know of any other bone deformity diseases caused by heredity that hit 3% of ANY SPECIES OF MAMMAL ON PLANET EARTH? If so post a link, I'd like to read about it.

Or alternately is "idiopathic Scoliosis" the only confirmed, genetic, bone deformity disease that hits 3% of a population?

Why do you need to ask me? I'm interested in scoliosis and don't have the time to study every single disease and its etiology in order to satisfy your curiosity. You can look if you'd like. My time is more valuable than that.

As for the other snarky comment you made: I NEVER said idiopathic scoliosis wasn't idiopathic. I said that I BELIEVE that one day they will find specific causes for cases of idiopathic scoliosis. My reason is because there is too much variance in the disease. That is my belief at this time. I never stated it as fact.

[rohrer01]

Color Blindness is hereditary and 1 in 10 men are afflicted with it. It doesn't usually cause disability, but I can think of many situations where it could be life threatening in a primitive setting. Today's modern lifestyle makes it safer but limits employment. Here is a credible, nonWiki source:

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001997/

That's 10% not 2-3% AND it's straight genetics.

Look up mental illness (a combination illness) and see how many are affected. I'd bet you'll be surprised how many are. I'm not going to waste my time looking up any more non-scoliosis articles, but anyone else can feel free to do so.

[Pooka1]

My reason is because there is too much variance in the disease. That is my belief at this time. I never stated it as fact.

I think the variance has probably been a major factor in not cracking this nut yet. It really is all over the place. It suggests more than one etiology or am amazingly complex interaction among many factors. Variable penetrane in just one example of why they can't determine the exact inheritance pattern. Something else, maybe chance, is controlling the penetrance. And then there is the issue of a completely different etiology for incidence versus severity as elucidated by the Scoliscore guys. The fact that AIS hits girls much more than boys suggest some involvement with endocrine system. That is not seen in IIS or JIS. The list goes on and on.

And the combination of all the actual complex pathology and physiology and anatomy going on looks like infectious disease to some lay folks. There is probably a very good reason researchers are studying many many other things and NOT studying infectious disease in IS. It has probably been ruled out on some grounds, probably epidemiology.

[Dingo]

Color Blindness is hereditary and 1 in 10 men are afflicted with it.

Color blindness is very common in Nordic countries. It might have served a useful purpose thousands of years ago. Many species see limited color or no color.

For what it's worth...

List of Colorblind animals

Dogs are considered to be color blind because they can't see certain colors. These colors include red, orange and green. Dogs can tell the difference between those colors, but they appear more yellow or blue. The only colors a dog can see are yellow, blue and violet. Cats can distinguish between blues and greens but can't see shades of red.

Calling colorblindness a genetic disease is like calling left handedness a genetic disease. It's a common trait in many species for a reason.

[mariaf]

I was going to chastise you for ascribing evil motives to people - but really, the parade of the arrogant leading the unpleasant leading the clueless in another thread is starting to wear me down. I hope that I, too, reach a place in my son's treatment where I am certain enough about his future that I can just sit back and laugh and poke fun at the other parents still trying to muddle their way through.

I love mankind, but man is starting to seriously p* me off. Good, lord, I need a drink!

I was not going to comment, but could not let such blatant cluelessness go. Clearly, you are referring to Sharon and myself as you attacked me on another thread after you totally and obviously misconstrued something I posted.

My son has not yet his his growht spurt. Unfortunately, there is NO WAY I am certain about his future - and even if I was, I would not sit back and poke fun at parents as you hope to be able to do when your son's future is certain (as you sarcastically stated in your post). If that was the case, then after my son's future was "set in stone" as you seem to infer it is, I would not have spent the past NINE YEARS since his surgery trying to eduate parents about fusionless surgeries and otherwise helping them.

You are so off base with everything it's not even funny anymore. I would hate to wake up every day and assume the worst about people when I have no clue what they are about. It must suck.