Autism Study Reveals No Genetic Associations

Autism spectrum disorders (ASD) include everything from the relatively mild Asperger syndrome (characterized by more mild social and language impairments) to full-fledged autism (characterized by severe social and communicative handicaps, limited interests, and repetitive behaviors).  ASD is relatively common, and in the United States it is estimated that one out of every 54 boys is affected (the frequency in girls is considerably lower, averaging one affected girl out of every 252). Although genetics certainly plays a role in these conditions, exactly how is not fully understood, and this newest  study, led by Richard Anney (Trinity College of Dublin) and Bernie Devlin (University of Pittsburgh School of Medicine), is the next a long line of scientific inquiries to this point. Their study, known as the Autism Genome Project (AGP), was conducted in two stages. The first stage of consisted of a genome-wide association study using genetic data from 1400 families affected by autism; the second stage checked the associations discovered in the first stage using the genetic data from an additional 1301 ASD-affected families and included another new genome-wide association study which combined the study subjects from both stages. When all the analyses were said and done, no SNPs (common genetic variations) were significantly associated with ASD. Furthermore, when some of the SNPs that had been identified in the first study as possibly associated with ASD were tested in the second-stage families, the associations failed to hold up.  This lack of common SNPs associated with ASD is both disappointing and enlightening. Knowledge of what is not true, paradoxically, is knowledge of what is true.  For instance, if I tell you that my pet Tyger is not a dog, you are one step closer to knowing Tyger’s a cat.  Most of science progresses through “not trues” — the failed hypotheses that bring us closer to real understanding. A perfect example of this mode of scientific progress is this recent genetic study.   Their lack of findings was quite a finding.
Although 23andMe does not, due to the lack of established results, report on genetic factors influencing the risk of autism spectrum disorders, we do report on many other conditions. Check out our many 23andMe disease reports. Not yet a customer? Visit our store or learn more.
The fact that no SNPs were associated with ASD in such a large study suggests that the effect of any one common SNP is quite small. Even when all the SNPs were used together to predict whether a study subject would have ASD, the model explained less than 1% of differences in risk for the condition. The fact that these common SNPs have little power to predict ASD does not mean that genetics is unimportant.  Twin studies suggest that ASD is at least moderately heritable, suggesting that genetics does play a role.  This current study’s lack of findings supports the idea that common genetic variations may play a smaller role than rare mutations or copy number variation (the number of copies of a given gene) in ASD risk. Thus, the lack of ASD associations today has, hopefully, brought us closer to tomorrow’s discoveries.
Editor’s note: Pending an FDA decision, 23andMe no longer offers new customers access to health reports referred to in this post. Customers who purchased prior to November 22, 2013 will still be able to see their health reports, but those who purchased after that time will not. Those customers will have access to ancestry information as well as access to their uninterpreted raw data.
  • Jason

    Problem is, about 95% of negative results research is rejected from publication.

    • JJ

      Nice thing is, we have Internet.

  • Heather

    My four sons have all been diagnosed with Asperger’s Syndrome, as have several others on my maternal side of the family. I would have to argue that it can have a genetic component.

    • Peggy Campbell

      I certainly understand your rationale for refusing to accept the genetic component, however, I must ask if your sons received vaccinations?

      • Tomasz Kolinko

        Studies linking vaccines to autism/aspergers were widely rejected.

        Besides that – it’s obvious that most kids receive vaccinations, so Heather’s children as well. It means absolutely nothing. Pseudoscience at it’s best.

        • Jay

          The number of studies documenting the link between autism and vaccines is growing rapidly. Here are two recent articles in support of this:

          “A Positive Association found between Autism Prevalence and Childhood Vaccination uptake across the U.S. Population”

          Journal of Toxicology and Environmental Health, Part A: Current Issues
          Volume 74, Issue 14, 2011, Pages 903 – 916
          Author: Gayle DeLong
          DOI: 10.1080/15287394.2011.573736

          “Infant mortality rates regressed against number of vaccine doses routinely given: Is there a biochemical or synergistic toxicity?”

          DOI: 10.1177/0960327111407644
          Hum Exp Toxicol published online 4 May 2011
          Neil Z Miller and Gary S Goldman

          “Linear regression analysis of unweighted mean IMRs showed a high statistically significant correlation between increasing number of vaccine doses and increasing infant mortality rates, with r = 0.992 (p = 0.0009). Using the Tukey-Kramer test, statistically significant differences in mean IMRs were found between nations giving 12-14 vaccine doses and those giving 21-23, and 24-26 doses. A closer inspection of correlations between vaccine doses, biochemical or synergistic toxicity, and IMRs is essential.”

        • Jack

          Then you must also say her genetic guess is also pseudo science and is meaningless.

    • Dr_Zinj

      Your 4 sons have common genetics; but they also have a common environment; and they have common parents and grandparents, which means that they are going to share a common epigenic history. It’s not just the genes, it’s the triggers that have been set for the past couple of generations in response to your son’s immediate ancestor’s environments, in addition to their own personal environment.

      • Being ‘neurologically abnormal’ (some call it ‘being on the spectrum’) another aspect that this study MOST LIKELY (as I haven’t read it) fails to take into account is the fact that over the last couple years ‘Autistic Spectrum Disorder’ and the fact that it is a gamut is ‘hitting home’ more and more in BOTH children AND adults.

        This fact alone has caused doctors and parents to be more aware of the possibility that that their children and or themselves are POSSIBLY on the Autistic spectrum and therefore have sought diagnoses as such. Not only that, but to try to find THE ONE AND ONLY REASON for a neurological disorder that can be caused by any number of a myriad of things INCLUDING such things as; GENETICS, NUTRITION, SOCIAL and PHYSICAL ENVIRONMENT and other things I have failed to mention is just futile. It is an error in reasoning to assume that something that deals with neuro-electric impulses and suttle differences in chemical composition / and or physical composition to affect such drastic change in a human body can be watered down to one or two so called ’causes’.

        Lastly, why not focus on helping those around us to be able to cope with those smaller percentage of us who are neurologically dissimilar and or work on coming up with better ways to live funcionally with OUR (those of us who are neurologically dissimilar) STRENGTHS and WEAKNESSES. Yes it would be neat if there were a cure, BUT then again FOR MANY OF US WHO have the autistic GIFT, we wouldn’t change it if we could. There are things that I could do that the vast majority of you all couldn’t dream of doing in a million years of learning. Not bragging here, but rather stating fact. I don’t want to be (and many others like me don’t want to be ‘neurologically normal), but rather we want to learn how to function effectively in society.

        I hope this gives us all a little more perspective on that autistic child that is growing up with the ‘something is wrong with you’ / ‘you are less capable then everyone else’ mentality being smashed down their face.

  • Hopefully we can continue to conduct research and studies, so that we can better understand ASD’s; and in the future perhaps we can begin treating and preventing autism.

  • Isn’t it high time we stop wasting money and effort on genetic studies. It is heartbreaking to think that all this money and energy could have been spent on cracking pathology and pinning down TREATMENTS. I totally disagree that “Their lack of findings was quite a finding.” It was actually totally expected!! Everyone who wanted to look with open eyes could always see that Tyger wasn’t a dog. We didn’t need to waste so much research money to see the obvious.

  • barbaraj

    I think many misinterpret “genetic” to suggest autism is inherited. Every allergy, cold, flu, is handled by our bodies according to our genes. While I will always get a sinus infection following any of the above, my sister will experience only the illness. Yet what triggered my “genetic” weakness, the cold, the allergy or the flu! Some of us are, thankfully at this time, most of us seem to clear the toxic soup of exposures every day and maintain a level of wellness, others clearly can not. I am no longer willing to inject human dna, mercury , aluminum, or nine illnesses in one day into my children. I think we simply just raise the odds of something going terribly wrong. Some of these vaccines clearly disrupt our genetic makeup, apply influence to disrupt normal function yet more frightening are the fragments of foreign dna via pigs to people that may insert themselves into our dna giving us a new “road map” with horrific consequence. We were led to believe the slight or minor reactions were the response to the antigens, providing the effective immunity, now we are looking at a rejection process that may lead our children to full blown autoimmunity and a lifetime of illness.

    • SuperY

      Very well said, barbaraj. My wife is pregnant and her OBGYN (who happens to be female) told us off the record that she was not allowing her own son to be vaccinated for precisely the reasons you describe. There are physicians out there who don’t want to promote vaccines even though they are required to do so.

      I will fight tooth and nail to do what you are doing.

      The documentary “For the Greater Good” was extremely eye-opening in this regard.

  • Lydia G.

    As a parent, it is my job to secure therapies for my child. Of course it hasn’t been easy and no I didn’t get everything I wanted, but I acknowledge it is my duty. In addition, treatments are variable and there is no scientific consensus for these either. It is up to the scientists to find a cause to help others in the future not have to seek treatment. Why not find a cause so we’re not locked in a circular pattern of chasing dubious treatments for generations to come?

  • Laura

    Barb brings up a great question. I have also wondered about the introduction into our genes of other genes via vaccines.

    Can this be identified using gene tests? Could 23 and Me, for instance, pick up foreign genes in our own?

  • Heather, you could simply be passing on something environmental that is causing your children’s condition. There was an excellent article in 18 August issue of the Economist magazine – if you can get hold of a copy do so!

    Amongst many interesting things this quote (my caps) stands out:

    “… Though less reliably so than the genes in egg and sperm, MICROBIOMES,
    TOO, CAN BE INHERITED. Many bugs are picked up directly from the mother
    at birth. Others arrive shortly afterwards from the immediate
    environment. It is possible, therefore, that apparently genetic diseases
    whose causative genes cannot be located really are heritable, but that
    the genes which cause them are bacterial. ” (although I would add ‘viral’ too!)

  • I have located that Economist article online:

    “…The other field that may be changed is genetics. Many of the diseases in which the microbiome is implicated seem to run in families. In some, such as heart disease, that is partly explained by known human genes. In a lot, though, most notably autism, the genetic link is obscure. This may be because geneticists have been looking at the wrong set of genes–the 23,000 rather than the 3m. For those 3m are still inherited. They are largely picked up from your mother during the messy process of birth. Though no clear example is yet known, it is possible that particular disease-inducing strains are being passed down the generations in this way… “

  • Taximom5

    I would like to point out that the autism rate estimate you quoted, 1 in 54 boys,is based on data from 2008, on children born in 2000.

    It is now 2012, and the rate is almost certainly significantly higher than that.

    On the subject of children born in 2000, it’s also worth pointing out that those children received the highest-ever number of vaccines in their first year; most of those vaccines were thimerosal-preserved, as thimerosal-free pediatric vaccines were not yet in full production. Thimerosal-preserved vaccines were still not only being produced, but continued to be sold and distributed in the US until as late as 2004.

    Thimerosal-preserved pediatric vaccines continue to be manufactured in the US, and are shipped to less-developed countries.

    There are a number of recent studies implicating aluminum–both alone and in combination with mercury– with both neurological and autoimmune disorders.

    The adjuvant used in vaccines is aluminum sulfate.

    One wonders why nobody is looking for a genetic sensitivity to heavy metals, or why nobody is pre-screening babies for mitochondrial disorders or for vitamin D deficiency (which results in glutathione deficiency, and without sufficient glutathione, the body cannot excrete heavy metals).

  • Renee

    Lara and Barb:

    First of all, the primary way that viral DNA gets into our genome is via viruses that undergo a lysogenic lifecycle; that is, a virus inserts its DNA into our DNA. This requires an active, “living” virus; many vaccines are killed or have a killed version. For example, the flu shot is killed virus but the nasal spray is live; the polio shot is killed, but the polio pill (which is not used in the U.S.) is live.

    Furthermore, the number of viruses we are vaccinated against are extremely inconsequential when compared to the number of viruses we are infected with on a daily basis. It’s hard to estimate exactly how many different virus strains have infected you and inserted your DNA into you, but it’s probably many thousands if not more.

    And finally, even a live vaccine contains weakened virus, meaning that it replicates itself so few times that it cannot cause an infection. Consequently the probability of it actually making it into your DNA is tiny.

    Rather, NOT vaccinating greatly increases the probability you’ll have viral DNA in your cells for those infections we vaccinate against. For instance, if you don’t vaccinate yourself against chicken pox and acquire a chicken pox infection, you’ll have chicken pox DNA in your cells for the rest of your life. When you become older or ever become immunocompromised, you’ll be at risk for shingles- a consequence of that chicken pox DNA coming alive in you once more.

    tl;dr vaccines protect you from getting viral DNA in your cells, not make you more susceptible to it.

    • SuperY

      Interesting comment (and not too long at all). Intuitively, my feeling is that it’s better to avoid many vaccinations at the current time in order to let the scientific community come to better understand this mysterious combination of genetics, microbes, industrial chemicals, and nutrition and how it relates to conditions like ASD. By the time my kids are grown, therapies or even cures are more likely to exist — such that the consequences of inserted viral DNA can be mitigated or reversed.

      Given the choice, I would choose for my children to not have ASD and instead take the risk of inserted viral DNA.

      Right now, today, ASD is quickly becoming a national crisis. Meanwhile, some of the strongest pro-vaccine advocates are those with autistic children.

  • Sheryl

    I think you post a lot of good, important information on this blog. But the name “Spittoon” diminishes your effort. I am not going to share information that I learned on a blog with that name, or a name like garbage can. Any chance you can continue your blog with name that has more self respect?


    Atladóttir et al (2010) say, “However, admission to hospital due to maternal viral infection in the first trimester and maternal bacterial infection in the second trimester were found to be associated with diagnosis of ASDs in the offspring, adjusted hazard ratio = 2.98 (CI: 1.29—7.15) and adjusted hazard ratio = 1.42 (CI: 1.08—1.87), respectively. Our results support prior hypotheses concerning early prenatal viral infection increasing the risk of ASDs.”óttir_et_al

    • SuperY

      That seems like a pretty important clue. At the same time, though, the broader question of the microbiome and what exactly mothers are passing on to their children must include that majority of organisms whose mere presence in/on the human body does not trigger a hospital visit.

  • David’s Daddy

    Today a pregnant mother can be told “Your child WILL have D.S.” or “Your child WILL have Fragile X”. These ARE genetic conditions that are not currently growing at an alarming rate. Until a mother can be told “Your child WILL have autism” it cannot be considered genetic.

  • Silvermaven
    They are right. It is not our DNA causeing it. It is infectious organisms DNA sharing in prion synergy caused by using what they considered Dead DNA in vaccines. Spirochetes can share up to 40% of their genes with whatever they need to survive, including plant bacterium and us. Bits of genetically altered DNA is causing the destruction of man and beast and most cancers. Just as they did when they took cells from a woman who had Syphilis and used them in many vaccines in the name of protection that was really infectious, even after they had played with it in at least 3 different countries knowing it could NOT be cultured.

    When they looked at the three-dimensional structure – the hairball – Encode researchers discovered that small segments of dark-matter DNA are often quite close to genes they control. In the past, when they analyzed only the uncoiled length of DNA, those controlling regions appeared to be far from the genes they affect.
    So what happens when we are infected with JUNK DNA we were never supposed to have? We get syndromes of those infectious JUNK DNA bits attaching to our own Balls.
    They knew in 1985 and again in 1996 that the infectious DNA attached to the gene columns and did nothing to protect their profits of all things immunological.

    Pam3cys is Ecoli for use in vaccines knowing less than half of what its proteins functions still today…
    Pam2cys is Mycoplasma for the same and less is know about it than Ecoli. Yet here we go—killing the public on purpose.

    So you say ok, how could that be useful? Because they turn off the immune system, no immune system, no fight—we tolerize any and all infections in prion synergy and that is why we have OUR AGE OF SYNDROMES. That are all actual infections.

    • SuperY

      Fascinating. Would you say that any vaccines are worth getting, given this information?

      The basic test for me right now is if the condition we’re supposedly vaccinating against is lethal or/and has no cure.

  • Tom

    Can 23andme recognize Copy Number Variations? Seems this is a genetic contender in autism.

  • I would be curious to see if there is a significant genetic association among mothers of autistic children. I have read a lot of studies that seem to be consistent with placental issues and though those may be largely environmental (age, stressors, potentially toxins), the statistics in families might indicate there is also a genetic component among parents (that may not be significant among offspring)

  • RGW

    All I know is that there is no history of anyone in our family with any condition like or similar to autism. My three older children are neurotypical. My 4th son is autistic. He has had practically every test there is, and the only one with an abnormal result was his genetic test. He has a microdeletion on chromosome 12 (12p 11.23), 505k.

  • Edward Salwin

    Consider changing your title to:
    “Autism Study Further Supports Rare, Not Common, Genetic Associations”

    The study ( specifically examined *common* genetic variations, since autism has been linked primarily to *rare* genetic variations.

    From the study:
    “While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common variation to the risk of developing ASD is less clear.”

    • Your Everything


  • Edward Salwin

    This DNA test predicts autism with 70% accuracy (in Europeans):

    Not nearly accurate for clinical applications, but still indicative of the genetic role in autism.

    • Your Everything

      how if they say NO gene can be associated with ASD yet we can predict.. sounds like BS. They’ve been trying for decades. there just isn’t a gene