<img loading="lazy" decoding="async" class="aligncenter size-medium wp-image-6586" title="23andMe_Logo_blog" alt="" src="https://blog-api.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-300x300.jpg" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog.jpg 350w" sizes="auto, (max-width: 300px) 100vw, 300px" />
You may not have thought about your genome lately, but one day you will and so will your doctor.
In an <a href="http://www.guardian.co.uk/commentisfree/2013/mar/13/know-your-genome-personal-genetics">opinion piece</a> published in the Guardian, Anne Wojcicki, our CEO and co-founder, offered some thoughts about why knowing your own genetic information will become increasingly important for your health.
We’ve already seen how the technology has rapidly advanced offering consumers affordable access to actionable information about their genetics.
Just as with other kinds of health information – your blood pressure, your family medical history and the details of your diet – the information from your genetics can help you and your doctor make the right decisions for your health. As Anne says in her Guardian piece, 23andMe was started in part to empower people and involve them in their own health care. Access to genetic information also helps open the way for more personalized treatments. By aggregating that information and involving people in research, scientists can more quickly gain understanding of the genetic components of disease and speed develop treatments, new drugs and diagnostics.

23andMe Blog

23andMe Blog Team

Getting to Know Your Genome

<img loading="lazy" decoding="async" class="alignright wp-image-421 size-medium" title="Neanderthal" src="http://35.88.189.111/wp-content/uploads/2008/07/neanderthaler2-300x200.jpg" alt="" width="300" height="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2008/07/neanderthaler2-300x200.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2008/07/neanderthaler2.jpg 400w" sizes="auto, (max-width: 300px) 100vw, 300px" />
There’s much to recommend in Carl Zimmer’s profile of David Reich in Discovery Magazine.  Not least of which are details on our favorite extinct human cousins, Neanderthals.
Neanderthals are the rock stars of the piece. Zimmer also gives them their due, as well as a good primer on human evolution, and ancient migration out of Africa. He also explains  what all that ancient DNA might mean for modern humans.
There are few things as fascinating to the folks here at 23andMe. At the forefront is the idea that the DNA of Neanderthals – who vanished about 30,000 years ago – lives on in us. And it bolsters the theory that Neanderthals and humans interbred between 37,000 and 86,000 years ago. This was about the time when modern humans began to migrate from Africa to Europe.
23andMe’s popular <a href="https://www.23andme.com/ancestry/deep/">Neanderthal feature</a> was developed by scientists Eric Durand and Mike Macpherson. It can tell you how much Neanderthal DNA you have.
In Zimmer’s piece Reich suggests that there may also be DNA from other extinct human subspecies in our genes, such as <a href="https://www.nature.com/nature/journal/v468/n7327/abs/nature09710.html">Denisova</a>, another of our early human cousins. The remnants of that ancient DNA &#8212; which pieces, how much of it, and who carries it today &#8212; contain insights not just about human evolution and migration, but about health and traits in modern humans.
If you haven’t already, check out Zimmer&#8217;s story or read more about what we&#8217;ve written about Neanderthals and humans:
&#8211; <a href="https://blog.23andme.com/articles/more-fun-with-neanderthals">More Fun with Neanderthals</a> 
&#8211;<a href="https://blog.23andme.com/articles/find-your-inner-neanderthal"> Find Your Inner Neanderthal</a> 
&#8211;<a href="https://blog.23andme.com/articles/new-evidence-suggests-interbreeding-between-humans-and-neanderthals"> New Evidence Suggests Humans and Neanderthal Interbreeding</a>
<div style="padding: 10px; margin-top: 15px; margin-bottom: 15px; font-size: 12px; border: 1px solid #ccc;">
<img loading="lazy" decoding="async" class="alignright wp-image-14049" title="neanderthal icon" src="https://blog-api.23andme.com/wp-content/uploads/2012/06/neanderthal-icon-96x150.jpg" alt="" width="50" height="77" />
Got Neanderthal DNA?
23andMe customers can <a href="https://www.23andme.com/you/labs/neanderthal/">find their inner Neanderthal</a> or at least how much Neanderthal DNA they have. Not yet a customer? <a href="https://www.23andme.com/store">Visit our store</a>!
</div>

Our Neanderthal Cousins

<img loading="lazy" decoding="async" class="aligncenter size-medium wp-image-8468" title="Flour wheat celiac" src="https://blog-api.23andme.com/wp-content/uploads/2011/02/iStock_000014686955XSmall-300x199.jpg" alt="" height="199" width="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/02/iStock_000014686955XSmall-300x199.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2011/02/iStock_000014686955XSmall.jpg 425w" sizes="auto, (max-width: 300px) 100vw, 300px" />

Editor&#8217;s note: This post has been altered to reflect 23andMe&#8217;s new product offering.


By Amick B.

Like other autoimmune diseases, <a href="http://www.23andme.com/topics/health-predispositions/celiac-disease/">celiac disease</a> has a strong genetic component, but new research shows that environmental factors, including an exposure to a variety of microbes in our water and in dust, may also play an important role.
A recent<a href="https://www.nytimes.com/2013/02/24/opinion/sunday/what-really-causes-celiac-disease.html?pagewanted=all&#038;_r=0"> New York Times article</a> reported that the amount of bacteria in the gut affects whether the immune system treats glut
en as food or as a deadly invader.  Research also showed that breast-feeding, which increases this important group of intestinal bacteria — called bifidobacteria — may protect against the disease.
This finding is related to other<a href="https://blog.23andme.com/news/is-autoimmunity-a-result-of-genetic-adaptation-to-pathogens/"> recent research that suggests</a> versions of SNPs associated with increased risk for autoimmune diseases may come from immune defenses originally evolved to protect people from infectious organisms.  This means that the very same genetic adaptations that protected our ancestors from harmful pathogens may now have undesirable consequences in our “cleaner” modern societies where those pathogens are no longer common. 
For people with celiac disease, the simple act of eating food with gluten – a protein found in wheat and other grains – triggers an immune response that mistakenly attacks their digestive system. The disease strikes people who inherit certain versions of a protein called HLA-DQ, one of the proteins the immune system cells use to mark foreign proteins for attack.
The versions of HLA-DQ that are associated with celiac disease bind to gluten as if it were a threat; this mistaken immune response damages the villi lining the small intestine, undermining the absorption of nutrients and ultimately causing symptoms ranging from stomach aches and diarrhea to iron deficiency.
While 30-to-40 percent of all people have the versions of HLA-DQ that increase the risk for celiac disease, only about one percent of the U.S. population, or about two million people, actually gets the disease. While genetic proclivity makes us susceptible, some kind of other immunological trigger is required to kick the disease into gear.
Along with certain genetic markers, the risk factors for celiac include having European ancestry, a family history of celiac disease and a personal history of other autoimmune disorders.


Celiac disease should not be confused with other problems related to gluten, namely wheat allergies and gluten intolerance. Wheat allergies trigger responses that range from hives to sneezing and wheezing. Unlike celiac disease, gluten intolerance triggers a response that comes from innate immunity — the body using its normal immune response to repel gluten as if it were an invader — causing a direct response in the form of inflammation inside and outside of the digestive tract.


Celiac disease comes from adaptive immunity, a more sophisticated system in which genes activate specific cells to fight foreign bodies. With celiac disease, one’s own tissue lining of the small intestine is attacked as a result of this adaptive immunity. The only treatment for celiac disease is adherence to a completely gluten-free diet. Luckily this completely alleviates symptoms for most people with the disease and allows the damage to their intestines to heal.
Unfortunately, we don’t have much control over the microbes in our environment, but we can at least educate ourselves to recognize the symptoms of Celiac Disease if and when they appear.
Amick Boone is a freelance writer who&#8217;s written about health and life sciences for nearly 10 years.  When she&#8217;s not at her computer, she&#8217;s usually in motion &#8211; doing yoga, riding her bike or traveling.

Amick Boone

Genetics, Microbes and Celiac Disease

<span id="internal-source-marker_0.19513093507326507" style="font-size: 15px; font-family: Arial; color: #000000; background-color: transparent; font-weight: normal; font-style: normal; font-variant: normal; text-decoration: none; vertical-align: baseline;"><img loading="lazy" decoding="async" title="iStock_000009024892XSmall" src="https://blog-api.23andme.com/wp-content/uploads/2013/03/iStock_000009024892XSmall-300x240.jpg" alt="" width="300" height="240" />
Researchers have long believed that genetics put some people at higher risk for mental illness than others, but exactly which genes are involved has remained a mystery. Even very large studies have come up with relatively few insights into the genetics of mental illness.
But a study <a href="http://www.thelancet.com/journals/lancet/article/PIIS0140-6736%2812%2962129-1/fulltext" target="_blank" rel="noopener noreferrer">published</a> last week in The Lancet is shedding some light on the connection between genetics and mental illness. The study is the largest mental illness study done to date, and used genetic data from over 60,000 people of European ancestry.
The scientists, led by Dr. Jordan Smoller from the Massachusetts General Hospital in Boston, looked at five different forms of mental illness: autism spectrum disorder, bipolar disorder, attention deficit-hyperactivity disorder, major depression disorder, and schizophrenia. They found four different genetic associations with mental illness in general, and surprisingly they discovered that three of the four associations were involved in all five conditions. This means that the same genetic variants involved in depression may also be involved in schizophrenia.  This genetic similarity between different forms of mental illness was suspected from previous studies in which twins would have different forms of mental illness.
Another interesting aspect of this new study was the importance of calcium channels. Calcium is important for muscle contractions and heart beats, and calcium channels are gates that let calcium in and out of our cells. Two of the four genetic variants that the researchers found occur in genes that encode these calcium channels, suggesting that calcium channels may also be important for mental health.
Sometimes research discoveries seem too removed from our day-to-day life to matter.  Yet this new insight into calcium channels could lead to new treatments, and new treatments would mean good news for millions.  During the course of this year, it is estimated that one in ten of us will suffer from a mood disorder, such as depression or bipolar disorder.  If it’s not you, it may be someone you know.  That makes this study pretty exciting for us all.
<img loading="lazy" decoding="async" class="alignright size-full wp-image-17678" title="MentalIllness" src="https://blog-api.23andme.com/wp-content/uploads/2013/03/MentalIllness2.jpg" alt="" width="593" height="316" srcset="https://blogcms.23andme.com/wp-content/uploads/2013/03/MentalIllness2.jpg 791w, https://blogcms.23andme.com/wp-content/uploads/2013/03/MentalIllness2-300x160.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2013/03/MentalIllness2-768x409.jpg 768w" sizes="auto, (max-width: 593px) 100vw, 593px" />This graph shows the prevalence of different forms of mental illness in US adults in any given year. Statistics are from <a id="internal-source-marker_0.19513093507326507" href="http://www.nimh.nih.gov/health/publications/the-numbers-count-mental-disorders-in-america/index.shtml#MajorDepressive" target="_blank" rel="noopener noreferrer">NIMH</a>. 
 SNPwatch gives you the latest news about research linking various traits and conditions to individual genetic variations. These studies are exciting because they offer a glimpse into how genetics may affect our bodies and health; but in most cases, more work is needed before this research can provide information of value to individuals. For that reason it is important to remember that like all information we provide, the studies we describe in SNPwatch are for research and educational purposes only. SNPwatch is not intended to be a substitute for professional medical advice; you should always seek the advice of your physician or other appropriate healthcare professional with any questions you may have regarding diagnosis, cure, treatment or prevention of any disease or other medical condition.

The Genetics of Mental Illness

<div style="float: right; text-align: justify; width: 250px; background-color: #e6e6e6; padding: 10px; margin-left: 15px; margin-bottom: 15px; font-size: 12px;">
<img loading="lazy" decoding="async" class="aligncenter wp-image-8518 size-full" title="RDD_white" src="http://35.88.189.111/wp-content/uploads/2011/02/RDD_white_lg.jpg" alt="Rare Disease Day logo" width="600" height="573" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/02/RDD_white_lg.jpg 600w, https://blogcms.23andme.com/wp-content/uploads/2011/02/RDD_white_lg-300x287.jpg 300w" sizes="auto, (max-width: 600px) 100vw, 600px" />
February 28 is Rare Disease Day – a concept first initiated by the European Rare Disease Organization (EURORDIS) and now recognized around the world. Around 6,800 rare diseases have been identified and up to 80% of them have a genetic origin. 23andMe provides genetic health reports for many of these conditions and also carries out research on a few of them. 
</div>
When it comes to rare diseases, rare is not actually that rare.
Take that one person with <a href="https://www.23andme.com/health/Cystic-Fibrosis/">cystic fibrosis</a>, the other person with sarcoma, and then someone with <a href="https://www.23andme.com/health/Sickle-Cell-Anemia-Malaria-Resistance/">sickle cell anemia</a>. All of these conditions are considered rare, but when you add up all the people with a rare disease you land at “one in ten.” This means that roughly <a href="http://www.rarediseases.org/">30 million Americans</a> suffer from a rare disease.
Definitions can vary, but in the United States the “rare” label is applied to any condition that affects <a href="http://rarediseaseday.us/about/">fewer than 200,000 individuals</a>, or roughly one in 1500. Rare diseases are often poorly understood, with symptoms that can be difficult to diagnose, and can be life-threatening.
Most rare diseases can’t be cured and many lack effective treatments because research is often hampered by a scarcity of study participants and poor funding. 23andMe hopes to change this.
Our <a href="https://www.23andme.com/mpn/">Myeloproliferative Neoplasms</a> and <a href="https://www.23andme.com/sarcoma/">Sarcoma</a> research initiatives are aimed at understanding what causes these conditions, information that may one day help bring about a cure.
Beyond these initiatives we also research rare diseases through the typical customer experience. Individuals come to 23andMe, receive their genetic results, and if they desire, contribute to research by providing information about themselves. Our scientists aggregate this information and draw interesting correlations.
A first-glance finding is that roughly nine percent of 23andMe customers have a rare disease, right on par with the national average of ten percent. Slightly more 23andMe individuals with a rare disease are women.
<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-17662" title="rare disease" src="https://blog-api.23andme.com/wp-content/uploads/2013/02/rare-disease.png" alt="" width="950" height="306" srcset="https://blogcms.23andme.com/wp-content/uploads/2013/02/rare-disease.png 950w, https://blogcms.23andme.com/wp-content/uploads/2013/02/rare-disease-300x97.png 300w, https://blogcms.23andme.com/wp-content/uploads/2013/02/rare-disease-768x247.png 768w, https://blogcms.23andme.com/wp-content/uploads/2013/02/rare-disease-880x283.png 880w" sizes="auto, (max-width: 950px) 100vw, 950px" />

One in Ten Lives with a Rare Disease

<img loading="lazy" decoding="async" class="aligncenter wp-image-17535 size-full" title="23andMe Jeopardy Clue" src="http://35.88.189.111/wp-content/uploads/2013/02/23andMe-Jeopardy-Clue-scaled.jpg" alt="" width="2560" height="1920" srcset="https://blogcms.23andme.com/wp-content/uploads/2013/02/23andMe-Jeopardy-Clue-scaled.jpg 2560w, https://blogcms.23andme.com/wp-content/uploads/2013/02/23andMe-Jeopardy-Clue-300x225.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2013/02/23andMe-Jeopardy-Clue-768x576.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2013/02/23andMe-Jeopardy-Clue-1024x768.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2013/02/23andMe-Jeopardy-Clue-880x660.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2013/02/23andMe-Jeopardy-Clue-1180x885.jpg 1180w" sizes="auto, (max-width: 2560px) 100vw, 2560px" />
Last week we put up a quiz in the spirit of Jeopardy! after host Alex Trebek made use of 23andMe in one of his game clues.
The time was up last night to make your entry. So here are the answers to our Homage to Jeopardy! Quiz.
Remember you didn’t have to get everything correct to be entered into the giveaway. We’ll announce the two lucky winners on Friday. For more on the rules go  <a href="https://blog-api.23andme.com/wp-content/uploads/2013/02/23andMe-Jeopardy-Homage-Sweepstakes-Official-Rules-02.27.13.pdf">here</a>.
In the meantime, you can grade your own tests. We give you an A for effort. 
 
1) The “23” of 23andMe.com, a site tracing ancestry and personal genetic information, refers to pairs of these&#8230;
Too easy. The answer is “What are chromosomes.”
2) Men inherit one copy of this chromosome, while women inherit two &#8230;
If you marked your X on “What is the X Chromosome?” you are correct.
3) This recessive disease is characterized by crescent-shaped red blood cells &#8230;
The correct answer is “What is Sickle cell anemia?”
4) People with two copies of the E4 version of the APOE gene are at significantly increased risk for this disease&#8230;
The answer is “What is Alzheimer&#8217;s disease?”
5) This famous actor founded a Parkinson&#8217;s disease research foundation that partners with 23andMe, Inc&#8230;
The answer is “Who is Michael J. Fox?”
6) This fictional adoptee has appeared on the 23andMe blog to illustrate ancestry features&#8230;
Who is Sheridan?
7) 23andMe was used to analyze the DNA of famous figures on this PBS genealogy series&#8230;
What is &#8220;Finding Your Roots&#8221;?
8) Isolated populations can have higher rates of specific genetic variations due to this phenomenon&#8230;
What is the founder effect?

23andMe’s Homage to Jeopardy!

<img loading="lazy" decoding="async" class="aligncenter wp-image-17706 size-full" title="pd-graphic" src="http://35.88.189.111/wp-content/uploads/2013/02/pd-graphic.jpg" alt="" width="400" height="400" srcset="https://blogcms.23andme.com/wp-content/uploads/2013/02/pd-graphic.jpg 400w, https://blogcms.23andme.com/wp-content/uploads/2013/02/pd-graphic-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2013/02/pd-graphic-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2013/02/pd-graphic-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2013/02/pd-graphic-372x372.jpg 372w" sizes="auto, (max-width: 400px) 100vw, 400px" />
We’re excited to announce that the 23andMe Parkinson’s Research Community has exceeded its goal, enrolling more than 10,000 people with the disease and creating the largest cohort of genotyped people with Parkinson’s in the world.
Reaching this milestone offers scientists an incredible opportunity to better understand the causes and potential treatments for this neurodegenerative disease.  While we’ve already done important Parkinson’s research, it is what we hope to do in the future that is most exciting for researchers here at 23andMe.
“Having reached this important milestone, the next step for us is to focus on the data that we have collected,” said 23andMe’s Parkinson’s Research Manager Emily Drabant, PhD.  “This is a tremendously rich dataset and we want to learn as much as we can from it.” 
 
23andMe started this initiative four years ago, as a way to accelerate research into Parkinson’s, and we’ve already shown how our model can do just that by quickly replicating known genetic associations with Parkinson’s and discovering <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1002141" target="_blank" rel="noopener noreferrer">previously unknown genetic associations with the disease.</a>
Now that we’ve reach this enrollment goal, we can delve into the data to better understand such things as:
&#8211; The relationship between environmental and genetic factors in the development of Parkinson’s. 
&#8211; How those with Parkinson&#8217;s react differently to treatment so that treatments my be better individually targeted. 
&#8211; And, by continuing to engage with our community members – who, through their courage in the face of this difficult illness, inspire us –  we can better understand the disease and its progression.
Our research model offers great potential for the study of many different diseases, but it is ideally suited for studying diseases like Parkinson’s in which patients are limited by their illness.
“The symptoms of Parkinson’s often interfere with motor skills and affect each individual differently, so a traditional approach to research that requires individuals to physically go to a clinical research center can be a huge barrier to participation and data collection,” Dr. Drabant said.  “23andMe provides a unique opportunity for individuals to participate in research at their own convenience. By providing a saliva sample and answering questions online in the comfort of their own homes, individuals are enabling researchers to advance our understanding of how genes and environmental factors may inform the development and progression of Parkinson’s disease.”
And it is the people who are part of our Parkinson’s Research Community, who inspire us in our work with their courage in the face of this difficult illness. We could not have done any of this without each of the thousands of people who have joined the community and shared their data to advance our understanding of Parkinson’s.  We want to thank our Parkinson’s Research Community members for coming together and making this research possible.
We also want to thank our partners and friends at the <a href="https://www.michaeljfox.org/">Michael J. Fox Foundation</a>, <a href="http://www.thepi.org/">The Parkinson’s Institute</a>, <a href="http://www.parkinson.org/">National Parkinson’s Foundation</a>, <a href="http://my.clevelandclinic.org/default.aspx">Cleveland Clinic</a>, <a href="http://www.cureparkinsons.org.uk/">Cure Parkinson’s Trust</a>, <a href="http://www.pdasd.org/">Parkinson’s Association of San Diego</a>, <a href="http://www.nwpf.org/">Northwest Parkinson’s Foundation</a>, <a href="http://www.parkinsons.org.uk/">Parkinson’s UK</a>, <a href="http://www.caring.com/">Caring.com</a>, and <a href="http://www.parkinsons.ie/">Parkinson’s Association of Ireland</a>. These important institutions have offered tremendous support to this research as well as helping us spread the word and recruit interested individuals into this research community.
It has been quite a journey over the last four years — one that has taken us to<a href="https://blog.23andme.com/23andme-research/in-washington-talking-about-parkinsons-research/"> Washington DC to raise awareness for PD research</a>, to<a href="https://blog.23andme.com/news/inside-23andme/23andali/"> Muhammad Ali’s 70th birthday celebration to spread the word</a>, to<a href="https://blog.23andme.com/23andme-research/23andmes-parkinsons-community-is-almost-there/"> numerous PD patient conferences</a>, and led to some great press for the cause, including articles on<a href="https://www.npr.org/blogs/health/2012/08/20/158943097/search-for-parkinsons-genes-turns-to-online-social-networking"> NPR</a>,<a href="https://www.bloomberg.com/news/2012-05-11/google-s-brin-makes-strides-in-hunt-for-parkinson-s-cure-health.html"> Bloomberg</a>, BioCentrury TV and<a href="https://www.wired.com/magazine/2010/06/ff_sergeys_search/all/1"> Wired</a>.
We’re excited by the road ahead. We will continue to welcome people to participate in our research. While initially a donation from the Brin-Wojcicki Foundation was meant to cover the costs for just the first 10,000 people with Parkinson’s to enroll, the foundation’s continued generosity will allow us to continue to make it <a href="https://www.23andme.com/pd">free for anyone with Parkinson&#8217;s to join 23andMe</a> and be part of this research initiative.
We know that the possibilities for discovery continue to grow, and, with the continued partnership of our engaged Parkinson’s Research Community, we will move ever closer to a cure.

23andMe Reaches Parkinson’s Research Goal

<img loading="lazy" decoding="async" class="aligncenter wp-image-17551 size-full" title="AmyNickImage" src="http://35.88.189.111/wp-content/uploads/2013/02/AmyNickImage.jpg" alt="" width="462" height="362" srcset="https://blogcms.23andme.com/wp-content/uploads/2013/02/AmyNickImage.jpg 462w, https://blogcms.23andme.com/wp-content/uploads/2013/02/AmyNickImage-300x235.jpg 300w" sizes="auto, (max-width: 462px) 100vw, 462px" />
Editor&#8217;s note:  PloS Genetics just published Amy Kiefer and Nick Eriksson&#8217;s work. Check out their paper here. 
Nearsightedness, where far-away objects look blurry, is a endemic affecting about 30-40 percent of adults in the United States alone. The increasing use of computers and cellphones are likely to make the problem worse, because they train our eyes to focus on short distances.
One <a id="internal-source-marker_0.8001693658154698" href="https://www.ncbi.nlm.nih.gov/pubmed/20008719" target="_blank" rel="noopener noreferrer">study</a> in the United States highlights how quickly nearsightedness has grown. The study found that from the early 1970’s to the early 2000s, the rate of nearsightedness in the population skyrocketed from 25 percent 42 percent.
While it&#8217;s clear genetics plays an important role in nearsightedness, until this month relatively little was known about which genes are involved. Two large studies, one by researchers at 23andMe, are shedding light some light on the subject.  Led by Amy Kiefer and Nick Eriksson,  23andMe researchers analyzed genetic data and survey responses from more than 45,000 23andMe customers who consented to research. The researchers identified 22 genetic associations for nearsightedness in people with European ancestry, and  confirmed about half of these associations using data from a separate group of customers.
Adding even more support for these findings, many of the associations identified by the 23andMe research were confirmed by another large, independent nearsightedness <a id="internal-source-marker_0.8001693658154698" href="https://www.ncbi.nlm.nih.gov/pubmed/23396134" target="_blank" rel="noopener noreferrer">study</a>.
One of the associations confirmed by this second study was near the gene LAMA2. LAMA2 encodes a protein important for the development of different eye structures.
Among the genetic variants found by 23andMe researchers that are associated with nearsightedness, is a variant that actually lowers the risk. About 24 percent of people with European ancestry have this variant. The other study also independently found that genetic variation near the LAMA2 gene was associated with nearsightedness.
You can find out more on our nearsightedness findings in our paper recently published in PLoS Genetics.

New genetic variants found to influence nearsightedness

<img loading="lazy" decoding="async" class="aligncenter wp-image-17528 size-full" title="Tetralogy_of_Fallot.svg" src="http://35.88.189.111/wp-content/uploads/2013/02/Tetralogy_of_Fallot.svg_-e1682537405785.png" alt="" width="477" height="323" srcset="https://blogcms.23andme.com/wp-content/uploads/2013/02/Tetralogy_of_Fallot.svg_-e1682537405785.png 477w, https://blogcms.23andme.com/wp-content/uploads/2013/02/Tetralogy_of_Fallot.svg_-e1682537405785-300x203.png 300w" sizes="auto, (max-width: 477px) 100vw, 477px" />Image by Mariana Ruiz LadyofHats [Public domain], via Wikimedia Commons
By Bethann Hromatka, Ph.D.
New research suggests that a once-fatal <a href="https://en.wikipedia.org/wiki/Congenital_disorder">congenital</a> heart defect – sometimes called “blue baby syndrome” – is influenced by genetic factors that are broadly found in the general population.
Different heart malformations lead to poor oxygenation of the blood and a bluish discoloration of the skin, but the most common culprit (affecting three in 10,000 births) is a condition called tetralogy of Fallot (fah-LO), or TOF. Before the first heart surgery was pioneered for this condition in the mid 1940s, about 80 percent of affected children died before the age of ten.
<h6>Genetic Factors and non-genetic factors</h6>
Like most heart malformations that arise in the womb, it’s not possible to point to a single causative factor for TOF. A number of non-genetic factors increase risk – alcoholism and diabetes in the mother as well as poor nutrition and certain infections during pregnancy.
But there are also <a href="http://circgenetics.ahajournals.org/content/3/2/122.long">hints</a> that TOF is more common in some families, raising the possibility that genetics also plays a role.
<h6>A new study on TOF</h6>
The new <a href="http://hmg.oxfordjournals.org/content/early/2013/01/08/hmg.dds552.long">study</a> led by Dr. Heather Cordell from the Institute of Genetic Medicine in Newcastle provides insight into the genetic underpinnings of TOF. Dr. Cordell and colleagues carried out the first genome-wide association study (GWAS) on this condition in around 1,600 people of European ancestry and found two genetic variants associated with TOF. Their findings were published in the journal Human Molecular Genetics.
The first variant is located in a region of chromosome 12 (12q24) that has previously been associated with numerous complex conditions including coronary artery disease and autoimmune disease. The second variant is located in a gene called GPC5 that encodes a protein called glypican 5.
<h6>Other previously identified variants</h6>
Previous <a href="https://www.sciencedirect.com/science/article/pii/S1769721208001365">studies</a> have linked deletions near this gene with heart malformations including TOF.  A few other markers were also suggestively linked to TOF and it’s possible that future, larger studies might solidify their involvement.
This is the first study to suggest that common genetic factors in developing fetus play a role in TOF. Roughly 30 percent of people have at least one risky version of the SNPs discussed here, but each variant only increases risk slightly. Combine these genetic factors with environmental cues and the scale might tip towards TOF.
February is American Heart Month.

Latest Posts — Page 140