Scientists Discover 102 Genes Linked to Autism In Largest Study To Date

By Roni Dengler | October 17, 2018 4:00 pm
autism genes

A new study looks at the genes linked to autism. (Credit: Sharomka/shutterstock)

The quest to understand autism spectrum disorder seems an unending one. Now, researchers discover 102 genes associated with the disorder. The find virtually doubles the number of genes implicated in the complicated condition.

Curbed Communication

Autism spectrum disorder (ASD) is a developmental condition that affects at least 1 in 59 U.S. children. The disorder usually shows up as a range of symptoms in early childhood when kids are about 2 to 3 years old as a range of symptoms. Individuals with autism have trouble interacting with peers, engage in repetitive behaviors and have difficulty communicating with others. Many are highly sensitive to sounds and other sensations. The disorder is complex and affects individuals differently.

No one knows what causes autism but scientists suspect genetics play a role. Many families show inheritance of autism or related medical conditions such as sleep disturbances, seizures and gastrointestinal disorders that often accompany an autism diagnosis. Previous research identified 65 genes associated with autism, but these studies focused only on new mutations to find genes underlying the disorder.

Serious Search

Jack Kosmicki, a bioinformaticist and Ph.D. student at Harvard University who led the new research, thought that approach was lacking. It ignored other potential sources of genetic variation that could be at play. So, he and his colleagues cast a much wider net. The team analyzed the genetics of more than 37,000 individuals. They assessed new mutations but also genetic differences between affected individuals and case controls.

The researchers identified more than 100 autism-associated genes. When the team compared their results to published studies of individuals with autism, intellectual disabilities and developmental delays, he found about half the genes associated more with autism spectrum disorder than the other conditions that often show up with an autism diagnosis.

“Being able to look at other disorders in connection to ASD is significant and valuable for being able to explain the genetics behind the variety of possible outcomes within ASD,” Kosmicki, who presented the findings today at the American Society of Human Genetics 2018 Annual Meeting in San Diego, California, said in a statement. The discovery could also help untangle the differences between autism and intellectual disability and developmental delay.

For Kosmicki and colleagues, the discovery is a beginning. “We hope to create a resource for definitive future analysis of genes associated with ASD,” Mark Daly, a geneticist at the Broad Institute and Massachusetts General Hospital and one of Kosmicki’s advisors, said in a statement. The researchers hope to combine their results with other large studies of the genetic variation behind intellectual disability, developmental delay and psychiatric traits.

CATEGORIZED UNDER: Mind & Brain, top posts, Uncategorized
MORE ABOUT: genetics
  • Gary Whelan

    I ask this question. If it is genes that cause autism then why has the number sky rocketed in the last 20 years? Also why has the USA got a much higher number of cases then other developed countries?

    • PBCliberal

      Autism is currently an observational diagnosis, not a purely scientific one, which is a big reason driving gene-based identification. So we don’t really know what the rate is. We also suspect environmental culprits like pesticides. Access to a diagnosis plays a big part in the increasing numbers. South Korea’s autism diagnosis rate in children is 1 in 38, which is higher than the 1 in 55 or 1 in 68 which are the current estimates in the US.

      • Gary Whelan

        So environmental issue could cause Autism. Maybe metal contaminants in the brain? Maybe it could be in South Korea the vaccines used are the same amount as the USA. Could we check the North Korea rate? I bet it would be less the the South ??

        • waltinseattle

          no, not in brain. in developmental fortal blood supply sharing! the word is not toxic it is teratrogenic.

        • Yvonne Thompson

          we have always known that Autistm runs in families, meaning that we have always known that it was a genetic condition, the vaccine thing was started by a butt doctor..who is still making bank on fear.. i’m living proof of it, the odd person out in my family is a person with a “normal” brain.. and, the mercury was eliminated for some time, in the US before the uptick in diagnoses.. every time i see a study talking about these “environmental factors,” the sample sizes are incredibly, stupidly, small, or from mice, the aluminum.. is keeping the shot, from being cartoonishly large and basically trippling the number of injections, and, happens to not be the type that causes problems
          it’s a salt.. it gives just enough of an irritation that the body knows something is up.

      • Benjamin Edge

        Pesticide use peaked in the 1980s in the US. Also, relative toxicity to humans has been decreasing.

    • Jenny H

      I suppose that the reason that the USA has more cases of ‘autism’ than other countries, is because more ‘professionals’ diagnose a child’s/ person’s behaviour as ‘Autism’.
      We always had our weirdos, a ‘absent-minded professor’ types , our Idiot-savants as well as oddly-behaved mental retards. We just didn’t lump them all in together as “Autistic”.

      • Yvonne Thompson

        and you show that you are used to the sterotypes … Autistic spectrum disorder is tied into the receptors for the sensory organs, the fact that many of us are lacking in situational empathy/awareness, doesn’t mean we are “retarded” many of us are very well spoken, and can function just fine on a daily level, delays in fine and gross motor skills can be worked around, and so can sensory overload

        • Jenny H

          Andf you, my Dear show that you know little about it. Speaking as someone from a family that is rife with Asperger’s Syndrome – and being that way inclined myself. Re-read my post — apart from having autistic behaviour there is very, very little in common with Asperberg’s Syndrome and most of the other malfunctions lumped in with ‘Autism Spectrum disorder’. It is caused by many many different things — some genetic (over 100 genes so far identified) and others brain damage.
          If I had my way, we Asperger’s people would NEVER be lumped in with “Autistics”. In fact if I had my way the term would find its way OUT of the common vernacular. Diagnosis Autism is even more useless that diagnosing diseases as ‘fevers’.

          • Yvonne Thompson

            two adult diagnoses.. myself and my partner,three of our five children, watching the news feeds every day, it is a completely different diagnoses when it is actual brain damage… and the history of the diagnoses was one where Asperger was ignored, and the person, whose name i chose to forget, deliberately limited his cases to the most extreme.. the beginnings of the diagnoses lable were the other conditions, that had these other symptoms above the ones that were already attached to the conditions, making the finding that Autism shares some of it’s markers with things like certain types of Dimentia, not a surprise at all the comorbid condition was Autism, before we understood just how broad the spectrum actually is. and remember, it’s the behavior patterns, that are what determine the initial diagnoses, like not being able to make and keep eyecontact … one of the primary things that the genes seem to have been tied to is generating or not allowing the proper growth and death of the neurons, and those in turn are the sensory receptor neurons … i do not count my brain as damaged in any way, i’m sure you as a fellow “aspie” feel the same way, but that does not change the elietist attitude of the situation in past generations or the shifting in the diagnostics manual

          • Jenny H

            IF “Autism” or “Asperger’s Syndrome” had been around when my Parents were young they would BOTH have been diagnosed as Asperger’s. As would my mother’s father, my mother’s Uncle (on the other side). And from stories I’ve heard probably also my father’s father.
            My B-I-L’s father would have probably been diagnosed as Asperger’s and his Aunt might not have ended up in a mental institution.
            So would SO many famous people — Newton, Mozart,
            probably the bloke who shot the Grand Duke Ferdinand, Dr. W. C. Minor (The surgeon of Crowthorne, Leonardo Da Vinci . . . probably many of the OT prophets, Einstein . . . your dotty Aunt, the black sheep of the family . . . .

            Bom Autism and Asperger’s are new names for mental characteristics that ptobably pre-date modern humans! (I DID have an Asperger’s Dog!)

      • Lia Marie

        Google ‘autism pregnancy diet’ and you’ll find quite a few studies that suggest that the mothers diet and pre-pregnancy weight is suspected to play a role in autism. So the fact that the US is the most obese country in the world as well as has the highest rate of autism is more than a coincidence I think.
        Other studies suggest it runs in families, and what do families have in common? They all tend to share similar dietary habits, from growing up around the same dinner table, so to speak.

    • Yvonne Thompson

      1) it’s not higher, it just looks higher,

      2) one movie.. Rainman

      3) diagnostic criterium was shifted to better reflect the “spectrum” because no two of us are exactly the same and with that shift, Asperger’s syndrome was acknowleged as the “high functioning” autism spectrum…

      4) we have always known that it ran in families whitch means we have always known it was genetic.. we just managed to identify the genes, and found it wasn’t just one trigger switch,

      • Gary Whelan

        What a lot of lies. I was in a school with 100’s of children & lived in block with 100’s of more children. The was very few kids with autism. There are no references to kids banging heads and eating the own hands. This would have been very visible if even 1 child done it. It is out of control and environmental. Vaccine or chemicals are doing this. Genes do not cause ten fold increase in any sickness!!!

        • Yvonne Thompson

          and you haven’t been paying attention, because you don’t want to, self soothing with biting, is common enough,they make chew toys
          previous generations were either hidden away, or treated like a shameful thing, we were forced into conformity,
          kids banging their heads, is also the lack of coordination( at an early age,it meant my son kept landing in a way that he hit the same spot on his head repeatedly, it took several times before he got the hands out thing, ) and, those things were not the only “symptoms”… he still can’t tie shoe laces, and his writing looks like it was from first grade while he is in the third… and again… i stated that the shifting in the diagnostic criterium… led to a more accurate counting.. you will also find that allot of the time, the “condition” gets caught in boys more than girls, with no real reason that should be the case, and with the recognition that it isn’t just boys that can be autistic, you are getting allot of females like myself that were previously diagnosed with other things, discovering that autism fits them better than whatever comorbid condition, they were diagnosed with… andyou will see the standard… deliberate and practiced way he talks, if you ever meet him… i’ve had fourty two years of coping mechanisms in play and i still can’t stand the outside world at times because it’s too loud/ bright/ stinky.. and my emediate recall, is something close to nonexistant in stressful situations

          • Gary Whelan

            I have been paying attention. In fact I would consider myself very aware of most things around me. After 5 years of reading about vaccines and the sicknesses they claim to prevent. It has lead me to more information then I ever dreamed I would have to read to understand what is happening. To many families with the same story. The big picture is vaccines cause much more damage then anyone would like. Risk to benefit has just gone to far. 3 maybe 4 needed. Too many cause Autism in small percentage of children. And some damage to the brain in most children. (Learning difficulties).

        • Jenny H

          Probably because, Gary, thouse kids had been dumped in a home for mentally retarded!

  • Uncle Al

    Mammalian Warming! End it by crippling all humanity.

    implicated in the complicated condition” “disabilities” Blue rose insanely awesome answers require autists. Cherish and elevate them that they would embrace fulgent futures your tenebrous puny ape mind cannot comprehend.

    • Gary Whelan

      What are you trying to say here? Seems like a rant and does not add to the subject in a fashion people could understand or get help from.

      • Jenny H

        I think the ‘rant’ was re treating ‘autism’ as a ‘disease’ instead of a syndrome — a description of behaviour.

    • Partisan Puff

      You know a lot of ASD cases are severely debilitating and a serious burden on families. Not every autistic child is Mozart.

  • Jenny H

    A bit like the genes linked to being tall???

    • Yvonne Thompson

      these are the ones that deal with receptors in the brain, and in the development of fine motor control

      • Jenny H

        Yebbut. Multiple genes contribute to being tall, Multiple genes contribute to having autism. (Should I have needed to spell it out!)


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