Tapping Crowd Sourced Data Unearths a Trove of Depression Genes

Summary: Researchers use data shared by people who purchased their genetic profiles via online services to identify 15 genome sites linked to depression in people with European ancestry.

Source: NIH/NIMH.

Pay-to-play gene typing leveraged for statistical power.

Scientists have discovered 15 genome sites – the first ever – linked to depression in people of European ancestry. Many of these regions of depression-linked genetic variation turn out to be involved in regulating gene expression and the birth of new neurons in the developing brain.

But – in a twist – the researchers didn’t have to sequence anyone’s genes! Instead, they analyzed data already shared by people who had purchased their own genetic profiles via an online service and elected to participate in its research option. This made it possible to leverage the statistical power of a huge sample size to detect weak genetic signals associated with a diagnosis likely traceable to multiple underlying illness processes..

This novel use of crowd-sourced data was confirmed with results from traditional genetics approaches in the study, funded by the National Institutes of Health.

Roy Perlis, M.D., M.SC., of Harvard/Massachusetts General Hospital – a grantee of the NIH’s National Institute of Mental Health (NIMH) and National Human Genome Research Institute (NHGRI) – and colleagues from industry, report on their findings August 1, 2016 in the journal Nature Genetics.

It’s well known that at least some depression runs in families and some risk is inherited. Yet, prior to this study, conventional genome-wide approaches had failed to reliably identify chromosomal sites associated with the illness in populations with European roots. Since depression is thought to be like fever – a common set of symptoms likely rooted in multiple causes – lumping together genetic data from people with different underlying illness processes likely washed out, or statistically diluted, subtle evidence of effects caused by risk genes.

To increase their odds of detecting these weak genetic signals, the researchers adopted a strategy of studying much larger samples than had been used in the earlier genome-wide studies. They first analyzed common genetic variation in 75,607 people of European ancestry who self-reported being diagnosed or treated for depression and 231,747 healthy controls of similar ethnicity. These data had been shared by people who purchased their own genetic profiles via the 23 and Me website and agreed to participate in the company’s optional research initiative, which makes data available to the scientific community, while protecting privacy.

Image shows a depressed looking man sitting next to a wall.
To increase their odds of detecting these weak genetic signals, the researchers adopted a strategy of studying much larger samples than had been used in the earlier genome-wide studies. NeuroscienceNews.com image is for illustrative purposes only.

The researchers integrated these data with results from a prior Psychiatric Genomic Consortium genome-wide-association study, based on clinician-vetted diagnoses of more than 20,000 patients and controls of European ancestry. They then followed-up with a closer look at certain statistically suspect sites from that analysis in an independent 23 and Me “replication” sample of 45,773 cases and 106,354 controls.

In all, Perlis and colleagues found 17 genetic variations linked to depression at 15 genome locations. In addition to hinting at a link between depression and brain gene expression during development, there was also evidence of overlap between the genetic basis of depression and other mental illnesses. While the genome sites identified still account for only a fraction of the risk for depression, the researchers say the results support the strategy of complementing more traditional methods with crowd-sourced data.

“We hope these findings help people understand that depression is a brain disease, with it’s own biology,” said Perlis. “Now comes the hard work of using these new insights to try to develop better treatments.”

About this genetics research article

Funding: This study was supported by the NIH/National Institute of Mental Health, NIH/National Human Genome Research Institute.

Source: Jules Asher – NIH/NIMH
Image Source: This NeuroscienceNews.com image is in the public domain.
Original Research: The study “Identification of 15 genetic loci associated with risk of major depression in individuals of European descent” by Hyde CL, Nagle MW, Tian C, Chen X, Paciga SA, Wendland JR, Tung J, Hinds DA, Perlis RH, and Winslow AR will appear in Nature Genetics during the week of August 1 2016.

Cite This NeuroscienceNews.com Article

[cbtabs][cbtab title=”MLA”]NIH/NIMH. “Tapping Crowd Sourced Data Unearths a Trove of Depression Genes.” NeuroscienceNews. NeuroscienceNews, 1 August 2016.
<https://neurosciencenews.com/crowdsourcing-genetics-depression-4761/>.[/cbtab][cbtab title=”APA”]NIH/NIMH. (2016, August 1). Tapping Crowd Sourced Data Unearths a Trove of Depression Genes. NeuroscienceNews. Retrieved August 1, 2016 from https://neurosciencenews.com/crowdsourcing-genetics-depression-4761/[/cbtab][cbtab title=”Chicago”]NIH/NIMH. “Tapping Crowd Sourced Data Unearths a Trove of Depression Genes.” https://neurosciencenews.com/crowdsourcing-genetics-depression-4761/ (accessed August 1, 2016).[/cbtab][/cbtabs]

Feel free to share this Neuroscience News.
Join our Newsletter
I agree to have my personal information transferred to AWeber for Neuroscience Newsletter ( more information )
Sign up to receive our recent neuroscience headlines and summaries sent to your email once a day, totally free.
We hate spam and only use your email to contact you about newsletters. You can cancel your subscription any time.
  1. Baseball has given me many the skills I have needed to recover from my brain injury 39 years ago. On December 31, 1976 at around 3 A.M., I ran head first into the side of Bob Brewer’s, Ford Pinto while riding Pat Moore’s snowmobile by Summit Lake, Oregon. My friends said I was going full speed and was catapulted from the snowmobile to the side of Bob’s parked car.

    On impact, I broke my left jaw below my chin and rammed my right jawbone into my ear canal, separated my skull completely (cap fracture), shattered most of my teeth and fractured a rib. In the hospital the doctors couldn’t set my jaw for two days because of brain swelling.

    My hospital records show that I was in a Posey Jacket and wrist restraints all the time I was in the hospital. One day when I was in the bathroom I ranked out my catheter and a few days later was sent home with my parents because I started to get loose (3 times in 6 days). On my last day in the hospital I was found urinating in a planter in the hallway.
    For my safety and the liability of the hospital, I was sent home with my family who were told if they couldn’t handle me to put me in a nursing home.

    When I awoke at home a month after the accident I came out of darkness through a fog to about six inches from the mirror in my parent’s bathroom picking the wires in my mouth that was wired shut because of my broken jaw.

    I took a step back and saw I was in my bathrobe so I knew I must be at home and I knew my name was Ken and I played baseball.

    I didn’t know anything about home, Ken or baseball – all I knew was that my mouth was wired shut and that I wanted to find out why!

    Over the years many of my memories of who I am and what I have done have come back to me.

    However, the events of that night haven’t.

    I remember Christmas Eve because I went to McCready Springs to lay in the hot springs and then I don’t know anything until I awoke standing in front of the mirror picking the wires in my mouth.

    I remember coming home for the holidays to regroup and figure out where I was going to play that summer in Mexico, Italy or Australia? But all of that changed after the accident that I still can’t remember!

    I respect baseball and am grateful for the lessons and rewards it has given me. These rewards aren’t monetary but emotional. The memories I have from playing the game of baseball and the coaches who taught me the skills of how to play are what have gotten me through my darkest hours over the years and provided me with the courage to not give up.

    I respect my brain injury because of the lessons I have learned to get over the obstacles (stigma and stereotype) that society has created for people with brain injuries and other disabilities.

    Baseball has played a major role in my rehabilitation and the way to judge my recovery over the years.

    After my brain injury I pitched on several semi-pro teams in Eugene/Springfield, Oregon, but things weren’t the same. The first few years were very difficult because I didn’t have the self-confidence and discipline it takes to be a good pitcher. I pitched on 4 teams in six years, played some softball from time to time but didn’t have the ability to play at the level I could before my injury.
    My self-confidence took about eight years to return and by now a Men’s Senior Baseball League team – Eugene Giants – was being organized by some old semi-pro baseball teammates who wanted me to pitch on their team. I pitched and I got better. I got better and my self-esteem improved, and this gave me hope because I could see that I could do things I wasn’t able to do the previous season.
    Baseball also teaches you about poise and mindfulness.
    When I am pitching and it’s the bottom of the ninth with no outs and the bases loaded and have a one run lead – I had to throw strikes and get people out.

    If I lost my poise it gave my opposition an advantage because they could see I was becoming rattled and unable to concentrate on what I am there to do – keep the ball down – throw strikes – get ground balls – pitch to win!
    It took persistence and perseverance to regain my poise.

    Baseball brought back the poise and self-determination that I have needed to continue with my recovery from the brain injury.

    Today, brain injury professionals call this – mindfulness!
    By pitching again from 1994 to 2000, I got my pride back and was able to accomplish what I had done before my injury. I could see that I was getting better because I could start hitting the “spots” again and this took concentration and focus.
    Concentration and focus are critical elements in regaining old skills and learning new ones. This improved my self-confidence and self-esteem even more. I could start seeing light at the end of the tunnel and this gave me hope. 
    Hope is something that gets eaten away during the recovery process. 

    It’s easy to give up hope and start blaming others when you don’t see that you are getting better and the constant reminders of “how you used to be -and- who you are now” compounds our situation.
    The loss of your old self and the isolation this causes can be overwhelming and makes it easy to give up hope and start blaming others for our problems. 
    Baseball and brain injury are a lot alike.

    When I played “organized ball” in the minor leagues for the Milwaukee Brewers for 5 seasons (4 regular seasons & a Winter Ball Instructional League) and a season in Santiago, Dominican Republic, I always worked hard and took every advantage to learn from my managers and coaches. I took pride in the lessons I learned and the managers and coaches who taught me.

    Today, I use those skills when I work with people with brain injuries to live independently in the community.

    It takes discipline, self-confidence and practice to succeed!
    Organized baseball also taught me about learning “situations.”

    Situations are what we practiced everyday during spring training. Thinking about these situations is when you have to think ahead and make the pitches it will take to “control the situation.”
    For example:

    With a runner on first who is a threat to steal second with nobody out –and you have a left handed hitter up – you have to know what pitch to make to get a ground ball for a double play.

    You have to make that pitch so that your infielders make a double play so that you can get two outs – instead of having two runners on base, with no one out. This can be very stressful
    Learning situations is about knowing how to relax during these stressful times.

    Being able to throw over ninety miles an hour and hit the spots from sixty feet – six inches (length from front of pitchers rubber to home plate) is very difficult and staying relaxed controls stress and also makes it easier to think and stay focused.

    Mindfulness is about controlling situations and relieving stress after a brain injury.

Comments are closed.