Genetics play a bigger role than environmental causes for autism
July 22nd, 2014
01:23 PM ET

Genetics play a bigger role than environmental causes for autism

Genetics plays more of a role in the development of autism than environmental causes, according to new research published Sunday in Nature Genetics.

The study found that 52% of autism risk comes from common genes, while only 2.6% are attributed to spontaneous mutations caused by, among other things, environmental factors.

“These genetic variations are common enough that most people are likely to have some,” said Joseph Buxbaum, a researcher at the Mount Sinai School of Medicine and one of the lead authors on the study. “Each one has a tiny effect on autism risk, and many hundreds or thousands together make a significant risk.”

Using Sweden’s health registry, the researchers compared 3,000 people with autism to 3,000 people without autism to determine the degrees that common and rare genes, as well as spontaneous mutations, contribute to autism risk. The study authors also compared the study’s results with a parallel study of 1.6 million Swedish families that identified specific genetic risk factors.

Buxbaum says the presence of these common genes can only determine the risk of autism, not whether or not the condition will develop. And even though spontaneous mutations only account for a small percentage of autism risk, their effect is significant.

“[Individuals] might have all the common variants there as part of their background risk, but it took this initial hit to push them over the edge,” Buxbaum said.

Chris Gunter, an autism researcher at the Marcus Autism Center and professor at the Emory University School of Medicine, says the findings of this study are similar to those reported in other studies.

“There is no one gene for autism,” Gunter said. “Instead there are many different genetic variations which each contribute a little bit to the risk of developing the group of symptoms we diagnose as autism.”

She added that we still don’t know exactly how much these different factors contribute to the development of autism.

Once scientists accumulate more data on the autism population, Buxbaum says this new research could help develop a “risk score” - such as the one that exists for heart attacks - that would help patients determine the likelihood of family members developing autism.

“The autism field has changed dramatically,” Buxbaum said. “We now have immense power to find both common and rare and spontaneous mutations in autism. That’s really the exciting part.”

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Filed under: Autism • Living Well

soundoff (660 Responses)
  1. A

    Somebody tell Jenny McCarthy that she's WRONG.

    July 22, 2014 at 14:14 | Report abuse | Reply
    • Sharon

      That's just what I was thinking!

      July 22, 2014 at 14:51 | Report abuse |
    • alain couvier

      The researchers found 41% of ASD in a Swedish population – could not be explained directly by genetics. What is not stated and which is self evident from a medical point of view that 'common genes' are each and everyone of them influenced in some way by environment.

      The general public need to understand that it is not a Gene v Environment but a complex series of interactions that can begin in utero and continue through a person's life span.

      For instance just recently researchers from the University of California added to the solid base of evidence that pollution interacts with genes in utero to raise autism risk significantly.

      That's just one of the 'environmental ' factors that are currently well evidenced and part of further investigation. Others include bacteria, viruses such influenza , measles and rubella , pesticides , toxins and heavy metals ... plus a plethora of evidence from the prenatal environment.

      Adding to this is the relationships of other diseases and disorders found in Autism , most notably the relationships of seizures , epilepsy . allergies , autoimmune diseases and gastrointestinal diseases such as Inflammatory Bowel Disease.

      Understanding the simple but complex relationships between genes and environment will see us progressively work towards new and exciting treatment regimes some as simple as prebiotics successfully shown in animal models to essentially 'cure' ... and that's more than exciting because that may mean future generations will be able to be free from depression , anxiety , bipolar , schizophrenia ...

      July 25, 2014 at 23:06 | Report abuse |
  2. Sullivan (Matt Carey)

    Thanks for this good summary.

    I think most of us still think of "single gene" genetics. It's interesting to see how genetics understanding has chanced in the past decade.

    July 22, 2014 at 17:00 | Report abuse | Reply
  3. Michael Fischer

    Great article. Thanks for sharing! http://www.voice4autism.org

    July 23, 2014 at 10:51 | Report abuse | Reply
  4. cali girl

    Where are all the anti vaccinate loons today? Autism is cause by vaccinations, autism is cause by vaccinations! The sky is falling, the sky is falling.
    Hope this lays to rest this whole stupid lie to rest.

    July 23, 2014 at 13:45 | Report abuse | Reply
    • SS

      How very proper of you to believe what you are told. Unfortunately much of what we are told is NOT true. Specifically about vaccines and more specifically the MMR vaccine. This recent news backs up what many mothers and fathers have reported about the day their baby or toddler changed – losing previous speech, motor and social skills as well as physical health. Recently the name of a CDC whistle blower was made public. He is a PhD and along with other PhDs colluded to withhold the information that their study of the MMR vaccine showed that it caused a large (320%) increase in autism in the black male child recipients. It is stated separately that blacks reacted at twice the rate of others so we can guess that other races are affected at about a 160% increase in autism. This cover up occurred 13 years ago. Since that time one of the other PhDs involved with the study actually sat before a congressional hearing and lied about the evidence. The whistle blower feels guilty, but that is much less important at this point in time than getting the information out. He knows his professional career is over, at the very least. He just wants to get this information out. We need this information in order to stop the damage. He is threatening a very profitable business line. His information tells us that we cannot trust the CDC and the individuals who purport to work to keep us safe. See what Jon Rappoport has to say. This whistle blower's reputation is at risk, his life is at risk. That is how it works when one threatens big business and big bureaucracies. He was escorted off the campus of the CDC 2 days ago. So we know that they now know who he is. It is important that we get this information and in order to do that William Thompson's name needs to be known, and he needs to be kept safe. There is a video available: http://vimeo.com/user5503203/review/103711143/91f7d3d4d8

      August 24, 2014 at 00:14 | Report abuse |
    • cabinfever

      You are so right. My perfectly speaking and developing child got a flu shot at 2 and has never been the same since that day. The change happened within 2 hours after. I called the doctor and told him my child just became Autistic. He told me I was paranoid. After about a year of denial the Autism diagnosis came. We adults can only take 2 painkillers but an 18 lb baby can get 3 shots in one day? I never got a flu shot and have lived through it many times but my child's doctor shamed me into getting that flu shot and even after I told him I think my child became Autistic from it he insisted I come back for the flu booster a month later. He didn't even ask to check my child for the lack of eye contact or speech setbacks after that shot. If I called about a cold, flu or earache they would say bring em right in!

      September 3, 2016 at 11:40 | Report abuse |
  5. cali girl

    Where are all the anti vaccinate loons today? Autism is cause by vaccinations, autism is cause by vaccinations! The sky is falling, the sky is falling.
    Hope this lays to rest this whole stupid lie..

    July 23, 2014 at 13:46 | Report abuse | Reply
    • Rex

      Sorry but if vaccines can cause brain damage, neurological damage and death in sensitive children, you really can't tell me that vaccines can't cause autism in sensitive children can you. Think about it. It's truly amazing how many of us buy into the propaganda.

      August 2, 2015 at 02:15 | Report abuse |
  6. Something's missing...

    So 52% is caused by genetics and 2.6% by spontaneous mutations caused by environmental factors. Ok, so what about the other 46%?....not saying it's vaccines, that's been disproven, but that definitely leaves a lot of room for environmental factors to have a big role in the condition.

    July 23, 2014 at 22:29 | Report abuse | Reply
    • gladr

      The 52% is due to "common" genes....there are also rare ones that have not been accounted for in this article....just mentioned briefly.

      July 23, 2014 at 22:33 | Report abuse |
    • bepatienz

      There is a difference between "environmental factors" and "results not yet explained by genetics." This problem is often termed "missing heritability" in discussions of polygenic traits like autism or human adult stature.

      July 24, 2014 at 01:28 | Report abuse |
    • Lucy

      The study found that 52% of autism risk comes from common genes, while only 2.6% are attributed to spontaneous mutations caused by, among other things, environmental factors.
      – Environmental factors can still play a huge role among those 52% of autism risk. The key word is risk ...Among those 52% with the genes some may develop the disease...so outside factors can trigger this propensity for Autism. I do not believe this study really tell us anything more re: Autism and environment.
      Like you stated also what about the other 48%. They definitely need a more refine study. I believe environment and nutrition play a huge factor!

      July 24, 2014 at 22:44 | Report abuse |
    • alain couvier


      Well said. It isn't a black and white issue – clearly environment interacts with genes and it's not just the mother and father. The environment of prior generations can have a clear effect on genes and is a cause for great concern.

      Washington State University professor had this to say only yesterday

      ""What your great-grandmother was exposed to during pregnancy, like the pesticide methoxychlor, may promote a dramatic increase in your susceptibility to develop disease, and you will pass this on to your grandchildren in the absence of any continued exposures," says author Michael Skinner."

      * Pesticides have been linked to a significant rise in ASD risk, as has heavy metals and other pollutants.

      July 25, 2014 at 23:15 | Report abuse |
    • SS

      See the above note. It has not been dis-proven. Continuously stating the same misinformation over and over and using the tired but effective method of ridicule is the usual technique used to convince readers of a desired opinion. When actual results are hidden and scientists themselves lie, we must be more diligent and look for causes and factors that match up with the observed results. So, put the vaccine link back on the table and start to deal with it.
      I am very hopeful that those who have taken the view point that vaccines do not cause autism, because they have been misled, are able to review the information and then aim their dismay in the right direction – at the scientists who lied and the agency and pharmaceutical companies that looked after their own interests above that of the children they purported to serve.

      August 24, 2014 at 00:24 | Report abuse |
    • InformedParent

      The interpretation also ignores G X E interactions. See envgencauses.com for >1,000 studies on autism.

      November 30, 2016 at 11:58 | Report abuse |
  7. mccabe1blog

    Excellent report – one of the best on genetics and risk I have ever read. Only one other observation – autism is a label for a wide contiuum of disablity – where as a heart attack is a much more distinct and less variable event. The utility of a risk score for autism would be rather different unless it was able to predict the location on the continuum not merely being somewhere on the continuum. That said – a truly excellent report. Congratulations.

    July 24, 2014 at 15:55 | Report abuse | Reply
    • alain couvier

      There is some solid evidence beginning to emerge for biological as well as genetic markers of ASD risk. These surround immune function such as C-reactive protein – an established inflammatory biomarker and urinary p-cresol ( the largest and most widespread source of this compound is represented by some gut bacteria).

      For instance c-reactive protein has been associated with a significant elevated risk for ASD and Schizophrenia focusing on infections and other insults during pregnancy.

      July 25, 2014 at 23:26 | Report abuse |
  8. EV Treatment Now

    It is likely that the pregnant mothers of these unborn children had an Enterovirus (EV) infection while they were pregnant that created a mutation in the baby's genes. If you ask a mother of an Autisitc child if they were sick while pregnant you would be clamoring for EV Treatment Now to prevent these lifelong illnesses.

    July 24, 2014 at 18:43 | Report abuse | Reply
  9. thinkthinkthink

    So, since these are common genes, pretty much anyone who chooses to have a baby can get a child with autism. Why didn't we have this much occurrence before if these genes are common? And, PLEASE stop referencing the "village idiot" scenario from colonial times. No one KNOWS they were autistic. It's an impossible to prove HYPOTHESIS. This isn't like they are saying people with blonde hair and blue eyes are more likely to have autistic children, though given that their study group was in Sweden, maybe it is. They are saying "common genes". I still think this is a pathetic effort for how long this has been around. Two weeks ago they said it was pesticide exposure. Two weeks before that it was taking high level of folic acid before getting pregnant and during pregnancy. They have changed their minds so many times about what increases the risk that it's hard to even take them seriously, anymore. "The autism field has changed dramatically"? I don't think so. They still don't have a clue what to do about it.

    July 24, 2014 at 23:54 | Report abuse | Reply
    • giulio

      simply the true! unfortunately autism and its ethiology remains still unclear...genetics cannot explain all, we can exclude vaccinations but around 50% of autism are totally unknown!

      October 22, 2014 at 12:58 | Report abuse |
    • InformedParent

      You are SO right. See envgencauses.com This article butchers the interpretation.

      November 30, 2016 at 11:59 | Report abuse |
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    July 27, 2014 at 23:16 | Report abuse | Reply
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  13. GKB

    Having read this it gives one cause to ponder on the probability of the following scenario :
    Let's say a couple adopts a new born baby and within the first 18 months everything seems just perfect, but as the months roll on the parents begin to notice the child isn't as "bright", nor as interactive as their neighbor's baby...the question is twofold – Is this due to the baby's environment or simply due to a gene already in his genetic make up or dare i say perhaps both ?

    September 19, 2014 at 05:32 | Report abuse | Reply
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  15. lola fallacy

    i guess if it goes untreated cells can morph into the wrong version of the good cell. reason why it prevalent or visual and presented in poorer families. from a former biology student, completed genetics.

    October 12, 2014 at 12:54 | Report abuse | Reply
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  17. alexander lamas miami

    Using Sweden’s health registry, the researchers compared 3,000 people with autism to 3,000 people without autism to determine the degrees that common and rare genes, as well as spontaneous mutations, contribute to autism risk. The study authors also compared the study’s results with a parallel study of 1.6 million Swedish families that identified specific genetic risk factors.

    March 30, 2015 at 02:52 | Report abuse | Reply
  18. alexander lamas miami

    The study found that 52% of autism risk comes from common genes, while only 2.6% are attributed to spontaneous mutations caused by, among other things, environmental factors.

    “These genetic variations are common enough that most people are likely to have some,” said Joseph Buxbaum, a researcher at the Mount Sinai School of Medicine and one of the lead authors on the study. “Each one has a tiny effect on autism risk, and many hundreds or thousands together make a significant risk.”

    March 31, 2015 at 03:44 | Report abuse | Reply
  19. FishGypsy

    Please include the citation to the actual primary literature in your summaries – science journalism by definition should list its sources.

    April 18, 2015 at 20:20 | Report abuse | Reply
  20. damonmatthewwise

    52% Common Genes 90% plus ... 2.6% genetic mutations; the rest are less common, but notable genes, a large amount of which co-exist at the same time. You do know that autism commonly occurs with AD(H)D, OCD, ODD, GAD, Dyslexia/Learning Intellectual disabilities, APD/SPD/AND/SND, etc mixes of many other things like skin issues, allergies, intolerances, are often picked up explain the 45.4%.

    May 22, 2015 at 02:43 | Report abuse | Reply
  21. damonmatthewwise

    See also http://www.forbes.com/sites/tarahaelle/2015/01/05/majority-of-autism-increase-due-to-diagnostic-changes-finds-new-study/

    May 22, 2015 at 02:45 | Report abuse | Reply
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  23. Rex

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  24. Rex

    Sorry but if vaccines can cause brain damage, neurological damage and death in sensitive children, you really can't tell me that vaccines can't cause autism in sensitive children can you. Think about it. It's truly amazing how many of us buy into the propaganda.

    August 2, 2015 at 02:27 | Report abuse | Reply
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  29. cherrymint

    if autism or whatever runs in the family, either from the mom's or dad's side of the family, don't have kids. in other words don't pass on your genes. one can't gamble with one's genes, especially with a history of illness or disease. even with a risk of 50-50, I say not worth it.

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  30. jb

    Autism is genetic. You get it from your parents. Who themselves, may be slightly affected due to their own genetic make-up. They may be "on the spectrum" as it were.

    Is it any wonder that these same parents are the ones responsible for perpetuating all sorts of loony ideas about vaccinations? They are frantically trying to prove this terrible condition did not come from them - and they are doing it with (possibly) diminished ability to understand the real world. These are people who may be genetically set up to be less able to tell when "experts" are leading them on.

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    My husband dumped me for a new woman 3 years after our marriage. And i was totally devastated and cried all day and night for aid. My Love life completely turned out to be a mess, because i couldn't just carry on with it anymore.. I was at the point of doing whatever thing that will save my Marriage and make him mine again, because i knew he was my soul mate and i fell deeply in love with him. We were both head over heels and over the moon for one another, and his feelings for me was so strong and he promised me love eternal. Life and pressure got in the way about two weeks before my birthday, And was pressured by his Mother to divorce me, and forced me to sign the divorce papers after seeing the attorney.. For weeks after our divorce he still remained in contacts with me, and after some times he no longer (calls nor texts) anymore. So i had no other choice than to cry out for help to Dr Unity the spell caster i found online, and to my best of luck, he was right presently here in united states.. so he did cast a spell for me and he assured me positive result after 24 hours.. For the first time in 14 months my ex husband did called me for apologies, and he felt so sorry and remorseful for ever leaving me, and he told me how much he love and miss me. And his spells made me so unique in the Sight of my husband, and did open his eyes and made him remember why and how we fell in love in the first place..Thank you for your help! From the depth of my heart of hearts I know we are meant to be. your website truly helped me and brought joy to my life once again. Email: Unityspelltemple@gmail.com or call him on: +2348072370762.

    June 22, 2016 at 05:04 | Report abuse | Reply
  37. unityspelltemple

    My wife left me because i was always drinking and even when i did everything to bring her back, she refused and told me it was over between us. For months i was helpless and restless because i could not get my wife back so one days as i was doing some research on the internet, i saw many testimonies on how Dr.Unity has helped people with his spell so i immediately contacted him email and today i am very glad that my wife came back to me within 48 hours just as Dr.Unity promised me and now i strongly believe that Dr.Unity is a God on Earth. Do you need help contact him for help via email: Unityspelltemple@gmail.com or call him on: +2348072370762.

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    I want to say a big thanks to the man who is behind my smiles today by reuniting me and my Husband after he divorced me, Almighty Dr.Unity who is a very powerful spell caster brought my husband back to me and made him beg me to forgive him for everything he did to me, i really missed him so much and always loved him. Am happy to have him back in my life and all my appreciations goes to Dr Unity for helping me and bringing my husband back to my life with his great powers. My friends out there who are going through marriage problems and divorce issues i assure you that you can get your lover back to your life with the help of Dr.Unity. You can reach him at: Unityspelltemple@gmail.com ,you can also call or Add him on Whats-app: +2348071622464. He has the perfect solutions to relationship issues.

    September 9, 2016 at 01:03 | Report abuse | Reply
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    My name is Jarvis Vicky. I found the Best and Powerful spell caster online who helped me to get back my husband who has left me for pass 3 years. we where married for 8years without a child and my friend introduce me to a real spell caster which i never believe it exist but after the meeting of this spell caster my problem where solved and now i am with my husband who left me for pass three years my life and my entire family are now happy now i have three kids with the help of this great spell caster. All Thanks to Dr.Unity if you need any spell, You can email him because he will be in the best position to help you. I wish you good luck and success. Unityspelltemple@gmail.com ,you can also call or Add him on Whats-app: +2348071622464.

    September 15, 2016 at 04:37 | Report abuse | Reply
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  46. Freedom

    How to Help the World's Poor

    Ways to Help the World’s Poor
    Do you want to know some easy ways to help the world’s poor? Well, here are 10 simple ways to help the world’s poor, which can often be done without even having to leave your home!

    1. Donate
    One of the quickest and most obvious ways to help the world’s poor is to donate to charity. Click here to donate to The Borgen Project.

    2. Call Congress
    This way to help the world’s poor is surprisingly simple. Every person in the United States has 3 representatives in Congress (2 Senators and 1 Representative in the House). By calling these 3 peoples’ offices each week, individuals can show the Congressmen the issues that they care about. Calling your Congressmen is a simple process. Generally, an intern will answers the phone, or you can leave a message after hours.

    The message you need to say is simple: “My name is ___, I live in ___, and I want to raise the funding for helping the world’s poor,” or something similar. As few as 7 people calling in can make a Congressman change his mind on a bill: Congressmen want those they are serving in the U.S. to be happy so if you let them know what you want, they are more likely to listen. Go here for more detailed instructions.

    3. Inform Yourself
    This is one of the simplest ways to help the world’s poor, and also it helps you to do the other things more effectively. Basically, all you need to do is stay informed on the issues. Pay attention to what is happening in Congress and read up on current poverty-related events. It may surprise you to find out that poverty has made some great strides in the past few years. Indeed, in the past 20 years, the world’s undernourished has decreased by 50%. Life expectancy has also increased by 1/3.

    (Browse The Borgen Project to find out more interesting facts about poverty).

    4. Build Buzz/Raise Awareness
    Now that you’ve done your research, you can use your new information as tools to build buzz, or to raise the awareness of those around you. If you care about the world’s poor, you can be sure that other people do too, but may just be unaware of how they can help. You can share info on different poverty-fighting organizations with your colleagues, family, and friends (see: 1. Donate for ideas). You can also call in to radio shows, write to editors, speak locally about the cause, send ideas to the media, or anything else that may bring the idea of helping the world’s poor to the forefront of people’s vision and thoughts.

    5. Social Media
    Recently, social media has become one of the most fantastical ways a person can help the world’s poor (among other ventures). This is perhaps the easiest way to help, as well. Many Congressional leaders (your members of Congress) have Facebook pages, Twitters, or websites. All you need to do is either post on their pages to bring up the idea of helping the world’s poor, or post on your own about the various issues. Also, you can easily follow many different organizations, including The Borgen Project, and retweet them or post about them on Facebook or other websites. Overall, your voice will be heard. (The Social Media of Congress can be found here and here). (Also, follow us on Twitter!)

    6. Get Political
    Although you can call Congress, or post on their Facebook pages, there are other ways to help the world’s poor and to “get political.” If you are willing, you can always arrange a meeting with Congressional staffers to tell them what issues (like reducing global poverty) you are interested in. You can also mobilize those around you; just one person calling into Congress will make a difference, but if multiple people in an area call Congress about the same issue and around the same time, there will be a bigger effect. Finally, you can “bird dog” Congress, which means to go to where a legislator is speaking, and ask them publicly about poverty (For example, “What are you doing to help poverty?” or “Will you support helping reduce global poverty?”, etc).

    7. Fundraising
    Another one of the ways to help the world’s poor is fundraising. Contact people about various organizations to donate to, or use sites like Crowd Rise to start a campaign. You can also run marathons or accomplish other feats as a way to raise money, as long as you ask people to be your sponsor. You can also ask for donations to different charities rather than receiving gifts for your birthdays, weddings, or other events.

    8. Be a Consumer with a Cause
    One of the surprising ways to help the world’s poor is simply by being a consumer, or something who buys things. This can be done by buying products from websites that donate a portion of their proceeds to charity, or from nonprofit organizations that sell shirts or other merchandise to help the cause. The Borgen Project even has a Visa Card that has no annual fee, and some unique card designs. Basically, when possible, buy from places that will help the cause.

    9. Arrange Events
    One of the harder ways to help the world’s poor is arranging events. Of course, this does not need to be too difficult: you could host parties (or movie/TV show marathons with your friends!) and have a $5 (suggested donation) to get in. This can be done by living your life as normal, but adding in charity donation so that everyone can get involved. On the other hand, you can also host poverty-based events, or parties with the pure purpose of raising awareness on poverty and discussing its issues. Finally, you can have a “non-event” event, where instead of going out that night, everyone donates a certain amount and stays in.

    10. Volunteer
    Finally, one of the most difficult (but, arguably, most rewarding) ways to help the world’s poor is through volunteering. This can encompass many different things: volunteer for a political campaign, volunteer for a nonprofit organization, volunteer for a movement to fight poverty, or grab an internship. Personally, I am an intern writing for The Borgen Project; I do not get paid, but it helps get the message out to the world. Overall, you can find volunteer opportunities online (for example, through Idealist), but there are also local opportunities that may be available if you ask around.

    To see even more easy ways to help the world’s poor, look here.

    – Corina Balsamo

    April 1, 2017 at 13:44 | Report abuse | Reply
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