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Clinical research: Autism genes linked to autoimmune disease

by  /  29 February 2012

Linked risk: Ankylosing spondylitis, a form of arthritis that in severe cases can lead to fusion of vertebrae, may share a genetic basis with autism.

The genetic risk factors for autism may also increase a person’s risk of developing ankylosing spondylitis, a form of arthritis of the spine, and decrease the risk of multiple sclerosis, according to a study published 13 December in Translational Psychiatry1.

The results suggest that similar abnormalities underlie both autism and autoimmune disease.

Epidemiological studies have shown that women with rheumatoid arthritis are more likely than controls to give birth to a child with autism. Women who have children with autism are five times more likely than controls to have antibodies that attack mouse brain tissue. When these anti-brain antibodies are injected into pregnant mice, they lead to social deficits in their offspring.

In the new study, researchers investigated whether autoimmune disorders and autism have a common genetic basis. They looked at the genomes of individuals in 941 families that have more than one child with autism, 3,000 individuals with an autoimmune disorder — ankylosing spondylitis, multiple sclerosis, rheumatoid arthritis or Crohn’s disease — and 4,500 controls.

The researchers identified all the single nucleotide polymorphisms, or SNPs — alterations to single DNA base pairs — associated with each disorder. They then compared the group of SNPs associated with autism and those linked to autoimmune disease.

There is a strong correlation between gene variants in individuals with autism and in those with ankylosing spondylitis or multiple sclerosis, the study found. Specifically, autism-associated SNPs increase the likelihood of developing ankylosing spondylitis, whereas they appear to protect against multiple sclerosis.

Autoimmune thyroid disease is also slightly associated with an increased risk of autism, the study found. However, the researchers saw no association between autism and Crohn’s disease or rheumatoid arthritis.

Like autism, ankylosing spondylitis is more common in males than it is in females, whereas multiple sclerosis is more prevalent in women, the researchers note.


1: Jung J-Y. et al. Transl. Psych. 1, e63 (2011) Article

15 responses to “Clinical research: Autism genes linked to autoimmune disease”

  1. SS says:

    Interesting, my childs autistic I had ITP when I was pregnant.

    • TB says:

      I have hashimoto’s thyroiditis and my son has autism, speech apraxia and now adhd. Hashimoto’s is an autoimmune disorder. HMMMM

    • aclubmom says:

      This is not a new revelation. Us moms all seem to have some link to an autoimmune issue. Autism can be treated if you treat the underlying medical issues. My son is now an engineer and does all the things I was told could never happen. When he was first diagnosed I was told an institution was in his future. If we did it so can you. But I must warn you treating autism is the toughest thing I have done in my life. Check out Ryan’s story at

  2. kay says:

    I have to correct something here. I am female and have Ankylosing Spondylitis. The reason females are late in getting diagnosed is because of articles like this. It is not true it is a man’s disease. We need to stop these articles that continue to down play the diagnosis of As in women. The article as a whole was very informative. but, plese be careful in what you put in the article! Most autoimmune diseases are in women!

    • Angela says:

      The article stated that its more common for men to have AS versus women, not that it’s a “man’s disease.” I too have AS and female. We are late in diagnosis, not because of this assumption but because our muscle formation is different than men. Men’s muscles are more defined, especially where bones and muscles connect making it easier to see signs of AS in X-rays and MRIs.

  3. jwright says:

    Dear Kay,

    Thank you for your careful reading of the

    I understand your concern that promoting the fact that disorders are more common in men than in women can lead to underdiagnosis in women. You might be interested in a couple of articles we have written on that discuss this issue as it pertains to autism:

    As in autism, about 3 times more men get AS than women. As you point out, this does not mean that many women do not suffer from the disorder.

    The reason that I included that fact in the article is that studies suggest that the reason autism is more common in men than in women is due to genetics. For example, a mutation on one copy of the X chromosome would have more severe effects in men, as they have only one copy. The researchers in the new study suggest that there may be an underlying genetic basis in common between autism and AS and the fact that both disorders are more prevalent in men supports this theory.

    Thank you again for your clarification,


  4. L says:

    Woman with depression has two children, female has Aspergers, the male gets Multiple Sclerosis. Could this possibly all be autoimmune, with slight genetic differences between individuals meaning they all got different conditions?

  5. Karen says:

    Hi Jessica. My brother has ankylosing spondylitis and has particular traits of singular focus, repetition, having to follow a time schedule to te minute. My 21 year old son was diagnosed 18 months ago and is showing the same traits, they live on different continents and have only met for two shirt periods so it isn’t learned behavior I have tried to discuss with my mother but she will not enter into this. I am starting to think if the genes are connected that my son may have developed a form of autism as the AS has taken hold, is this possible

  6. kal uk. says:

    Hi Jessica, just discovered your artical, I have a sister (50’s) with MS, a sister (40’s) with ankyosing spondylitis, all three of us have mild autistic traits, my daughter 15, has been suffering with neurological symptoms as yet unidentified. Your artical is very interesting to me and my family.

  7. Sarah says:

    So what would trigger expession of these autoimmune prone genes in 1 in 88 children and 1 in 54 boys? What is the common exposure that provokes or stimulates the immune system resulting in genetic expression of diseases which may otherwise lay dormant? That is the million dollar question.

  8. kal uk. says:

    In my case, I was brought up next to an oil refinery, the petro-chemical industry in the form of ICI and other heavy indurstries. Is it possible?

  9. Mkjava says:

    Interesting article. I have autoimmune thyroid disease and autoimmune premature ovarian failure and one of my sons is high functioning autistic.

  10. Becky says:

    My husband, his brother, and his sister have AS. My son is 11 and has had 3 arthritis flare ups, he is not yet diagnosed but we fear what is coming with him being so young. First of all my husband has gotten rid of all starch out of his diet and the AS symptoms have vanished. He has had AS for 18 years in his back shoulder hip knee feet and had just started in his sternum. Even on Celebrex he could barely get through a day at work. On the diet he has NO PAIN. Secondly my daughter has autism And I find this article very informative.

  11. Daisy UK says:

    Thank you for this article. My dob 1960. My periods had to be hormonally induced at the age of 18. I have had increasing symptoms of Ankylosing Spondilitis since then which was eventually diagnosed in 2007. I gave birth to my son in 1986, he has had vision defects from birth and progressively has developed schizophrenia. I have suspected a link between my HLAB27 genetic trait with my sons Mental Health problems.

  12. sheila uk says:

    Thank you for this article. I have a sister and 2 cousins on my dads side with MS and another cousin on my dads side had Lupus. We have various relatives from mum and dads side with Autistic traits including my 2 sons, my other sister and brother. My other brother had MS type symptoms but could not be diagnosed. They returned but he has not wanted to look into it further as he manages ok just now. The ones with MS do/did not have autistic traits and up to now none of the ones with autistic traits have/had MS. Hope this is helpful to somebody. Your comments have been helpful to me. Thank you for them.xx

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