<img loading="lazy" decoding="async" class="alignright size-full wp-image-6445" title="elderly_1" src="https://blog-api.23andme.com/wp-content/uploads/2010/04/elderly_1.jpg" alt="" width="337" height="223" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/04/elderly_1.jpg 425w, https://blogcms.23andme.com/wp-content/uploads/2010/04/elderly_1-300x199.jpg 300w" sizes="auto, (max-width: 337px) 100vw, 337px" />
New research, published recently in the journal <a href="https://dx.doi.org/10.1212/WNL.0b013e3181d9edba " target="_blank" rel="noopener">Neurology</a>, has found the surprising result that a genetic variant previously associated with better cognitive function in young people appears to have the opposite effect as people get older.
Alexandra Fiocco and colleagues from the University of California, San Francisco, studied 2,858 men and women (1,679 white and 1,179 black) who were between the ages of 70 and 79 upon recruitment to the study in 1997.   All were in generally good health and had no difficulty with day-to-day activities.
Each person was given two tests at various points over an eight year follow up period: 1) the Modified Mini-Mental State Examination, a measure of global cognitive performance; and 2) the Digit Symbol Substitution Test, which measures response speed, sustained attention, visual spatial skills and set shifting, and has been reported to distinguish mild dementia from healthy aging.
The study participants&#8217; cognitive test results were then compared with their genotypes.   This genetic variant associated with cognitive decline is found in the COMT (catechol-O-methyltransferase) gene, which encodes an enzyme involved in a variety of chemical conversions in the body, including the degradation of the neurotransmitter dopamine.   The different versions of encode COMT proteins with either a valine (Val) or methionine (Met) at amino acid 158.   The Val version of COMT is associated with higher COMT enzyme activity, and therefore lower levels of dopamine in the brain, while the Met version is associated with lower enzyme activity and higher dopamine levels.
In experiments carried out mainly in younger people, the Met version of COMT has been shown to be associated with better cognitive function.
Fiocco, et al., however, found that it was the Val version of COMT that was associated with less cognitive decline over the course of eight years in the elders they studied.   In both white and black subjects, the Val version correlated with smaller reductions in Digit Symbol Substitution test scores.   In white subjects only, the Val version was also associated with smaller declines in Modified Mini-Mental State Examination scores.
Why might the Val version of COMT have a protective effect against cognitive decline?   The authors suggest that the higher levels of COMT activity, and thus lower levels of dopamine in the brain, associated with the Val version might be better for optimal cognitive function in older adults due to the fact that there is a reduction in dopamine receptors in the brain as people age.
In support of this, they point to data showing that the brains of people with dementia have decreased levels of COMT enzyme activity.
Results from a few other studies in older adults contradict the findings of the current report.   That, combined with the fact that the Val/Met variation in the gene appears to have opposite effects in younger people, means that much more research will be needed to truly understand the role of COMT in cognition.

23andMe Blog

23andMe Blog Team

Genetic Variant May Impact Rate of Cognitive Decline in the Elderly

<img loading="lazy" decoding="async" class="alignright size-full wp-image-6408" title="eggs flour and milk" src="https://blog-api.23andme.com/wp-content/uploads/2010/04/iStock_000008849940XSmall.jpg" alt="" width="360" height="240" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/04/iStock_000008849940XSmall.jpg 424w, https://blogcms.23andme.com/wp-content/uploads/2010/04/iStock_000008849940XSmall-300x200.jpg 300w" sizes="auto, (max-width: 360px) 100vw, 360px" />
For the millions of children and adults with severe food allergies, ingesting even tiny quantities of some of the most basic foods can result in a potentially deadly reaction.   Milk, eggs, nuts, fish, shellfish, soy and wheat are some of the most common offenders.
<h2>What is Eosinophilic esophagitis?</h2>
Some people with food sensitivities have something more than just a food allergy.   Eosinophilic esophagitis (EoE) is a condition in which exposure to certain foods causes the inappropriate migration of immune cells called eosinophils to the lining of the esophagus, where they release factors that lead to inflammation and swelling.
This can result in feeding difficulties and failure to thrive in young children, and difficulty in swallowing in adults.   Other symptoms include heartburn, vomiting and food impaction in the esophagus.   About one in 10,000 people is thought to have EoE, although some researchers think this may be an underestimate.
<h2>The Genetics of Eosinophilic esophagitis</h2>
Studies indicate that EoE has a strong genetic component, but previous research has linked only one gene to the condition.   However, in a recent issue of the journal <a href="https://dx.doi.org/10.1038/ng.547" target="_blank" rel="noopener noreferrer">Nature Genetics</a>, researchers from Cincinnati Children&#8217;s Hospital Medical Center and the Children&#8217;s Hospital of Philadelphia presented results of a genome-wide associations study of EoE that indicate that a gene known to play a role in asthma and <a href="https://blog.23andme.com/articles/snpwatch-genetic-variation-may-increase-risk-for-atopic-dermatitis">atopic dermatitis</a> (a type of <a href="https://blog.23andme.com/articles/new-23andme-eczema-report">eczema</a>) is also associated with the condition.
A total of 351 people with EoE and 3,140 unaffected controls, all children and young adults of European ancestry, were studied to find genetic variations associated with the condition.
<h2>The TSLP Protein</h2>
The strongest association with EoE revealed by the DNA analysis was with a SNP near the TSLP gene.  One variant in the gene is slightly protective, while the other increases the likelihood of developing the condition.
The researchers looked at esophagus tissue samples to learn more about TSLP.   They found that the gene is turned on at higher levels in people with EoE, and that there is a correlation between having the protective variant and levels of the TSLP protein.
The TSLP protein is known to regulate inflammatory responses.   It is a key initiator of allergic inflammatory diseases and has been shown to be overproduced in atopic dermatitis lesions and asthma-affected lungs.   People with EoE often also suffer from these other allergic conditions.
&#8220;Eosinophilic esophagitis is a highly allergic disease, and one that is rapidly expanding,&#8221; said Jonathan M. Spergel, director of the Center for Pediatric Eosinophilic Disorders at the Children&#8217;s Hospital of Philadelphia and a co-first author of the study, in a press release.
&#8220;This is the first genome-wide association study done of this disease, and now that we have elucidated a gene pathway, the hope is that physicians can eventually intervene in that pathway and discover a new treatment.&#8221;

Genetic Variant Associated with Food Allergy-related Disorder Eosinophilic Esophagitis

<img loading="lazy" decoding="async" class="alignright size-full wp-image-6398" title="sarcoma-large" src="https://blog-api.23andme.com/wp-content/uploads/2010/04/sarcoma-large1.jpg" alt="" width="315" height="257" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/04/sarcoma-large1.jpg 315w, https://blogcms.23andme.com/wp-content/uploads/2010/04/sarcoma-large1-300x245.jpg 300w" sizes="auto, (max-width: 315px) 100vw, 315px" />
Sarcomas are an extremely rare set of cancers that affect the bone and connective tissues such as muscle, bone, fat, cartilage, tendons, blood vessels, and the like. With the launch of the new Sarcoma Community, &nbsp;23andMe hopes to recruit a research cohort that will serve as a platform for research investigations into the causes and treatment of sarcomas.
Current and former sarcoma patients may participate by being genotyped and completing surveys about their disease and treatment response through the 23andMe web-based research platform. In return for their participation, they will receive access to the full 23andMe experience at no charge. &nbsp; For more information, please go to <a href="https://www.23andme.com/sarcoma" target="_blank" rel="noopener">https://www.23andme.com/sarcoma</a>.
Dr. Robert Maki, MD PhD, a sarcoma medical oncologist, has provided more information about sarcoma to help us raise awareness about this disease:
In 2010, some 13,000 cases of sarcoma will be seen in the United States. &nbsp; This is an extremely small number compared to the total of more than 1.4 million people who are diagnosed with cancer each year in this country. &nbsp; The small number of cases seen, the diversity in the biology of each type, and the variable anatomic site in which each tumor arises, have made understanding of sarcomas difficult. Research into the causes of and best treatments for each type of sarcoma is a high priority.
Diagnosed early, sarcomas are eminently curable. But when they are diagnosed at later stages when the tumors are large or have traveled beyond where they started (metastatic disease), there is a lower chance for a cure.
Treatment depends on the type of sarcoma involved, its site of origin, and whether the tumor has spread. For a “primary” sarcoma (an isolated tumor that has remained in the place it arose), surgery is nearly always a necessary part of treatment. Radiation is used when tumors are large, either before or after surgery, with the hopes of preventing recurrence. For certain types of sarcomas (Ewing sarcoma, osteosarcoma and rhabdomyosarcoma, for example) chemotherapy is also used to help prevent recurrence.
After initial treatment, if a sarcoma returns, the next steps taken depend on the specific clinical situation. In some cases, the tumor can once more be cut out surgically. For others, radiation can be used to control the tumor. If a sarcoma has spread, chemotherapy is the first choice treatment. &nbsp; These drugs, which are taken by mouth or through an I.V., can travel throughout the body to attack all sites of the disease at once.
Clinical trials are always in progress looking for new treatments for sarcomas. &nbsp; Medical oncologists often test new chemotherapy agents in people who have had recurrences of sarcoma that have proven unresponsive to other treatments. &nbsp; Some of these drugs then go on to be assessed for their ability to improve the cure rate among people suffering from their first bout with the disease.
There are almost surely genetic factors involved in sarcoma, but we researchers do not have a good handle on these yet. We expect the next few years to be important in helping oncologists determine genetic and non-genetic risk factors that predispose people to developing sarcomas.
Patients with questions regarding the genetics of their cancers are encouraged to ask their physicians about how best to address the risk to themselves and their family members.

23andMe Launches Sarcoma Community

<img loading="lazy" decoding="async" class="alignright size-full wp-image-1138" title="fundus" src="https://blog-api.23andme.com/wp-content/uploads/2008/08/fundus.jpg" alt="" width="350" height="260" srcset="https://blogcms.23andme.com/wp-content/uploads/2008/08/fundus.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2008/08/fundus-300x223.jpg 300w" sizes="auto, (max-width: 350px) 100vw, 350px" />
Age-related macular degeneration (AMD) is the most common cause of irreversible vision loss in the western world among people over 60.
The two forms of the disease — wet and dry — both cause vision loss by destroying cells in the central portion of the retina.
<h6>Understanding AMD</h6>
In the last few years, progress in understanding AMD has been made thanks in part to the discovery of several common genetic variants, or SNPs, that together explain a large part of the risk for the disease.
Several of the AMD SNP associations have pointed to a role for the immune system in the disease. Now two new reports of genetic associations, published this week in the Proceedings of the National Academy of Sciences, point to a role for another biological pathway in AMD: HDL-cholesterol level regulation.
<h6>New Research</h6>
Two research groups, one led by scientists from <a href="https://dx.doi.org/10.1073/pnas.0912019107" target="_blank" rel="noopener noreferrer">Tufts University and the Massachusetts General Hospital (MGH)</a> and the other led by researchers from the <a href="https://dx.doi.org/10.1073/pnas.0912702107" target="_blank" rel="noopener noreferrer">University Michigan, the University of Pennsylvania and the Mayo Clinic</a>, each studied thousands of people with and without AMD.  All study subjects had European ancestry.
To increase their ability to find genetic variations associated with the disease, the researchers then shared their data and ran additional analyses.
Several variations previously associated with levels of high-density lipoprotein (HDL) cholesterol, the so-called &#8220;good&#8221; cholesterol, showed some association with AMD risk in the combined analysis.
<h6>The Strongest Genetic Association</h6>
The strongest signal was seen with a variant near the LIPC gene.   Each copy of the less common T version of this SNP was associated with 0.82 times odds of AMD compared to people with two copies of the C version.   The LIPC gene encodes the hepatic lipase enzyme, which is key to metabolism of HDL-cholesterol.
&#8220;This LIPC locus may greatly enhance our biologic understanding by opening up another pathway for consideration in the pathogenesis of AMD.   This finding could lead to insights regarding disease progression, ways to modify risk of AMD, and new treatments,&#8221; wrote the authors from Tufts/MGH.
<h6>The Role of Cholesterol</h6>
There has been previous speculation that cholesterol levels might play a role in AMD risk because cholesterol is a component of <a href="https://en.wikipedia.org/wiki/Drusen" target="_blank" rel="noopener noreferrer">drusen</a>, the deposits found in the retinas of people with the condition.
However, there has not been any clear scientific evidence of whether there is a connection.   Among studies in which a connection between cholesterol levels and AMD has been shown, there is disagreement about whether increased cholesterol levels increase or decrease AMD risk.
Adding to the confusion is the fact that among the cholesterol-related genetic variations, there is no clear-cut direction of effect.   Another version of this variant is associated with decreased AMD risk has been associated with increased blood HDL levels.
But for some of the other cholesterol-related SNPs with more modest associations that were identified in these studies, the association was in the opposite direction: the version associated with decreased AMD risk has been linked to lower HDL levels.
&#8220;We suspect these genetic variations found in the cholesterol pathway impact the retina differently from the circulatory system, so cholesterol levels in the blood may not provide meaningful information about AMD risk,&#8221; said Michigan/Penn/Mayo study lead author Anand Swaroop in a press release.
By combining their data, the two research groups also found evidence that a SNP near the TIMP3 and SYN3 genes is associated with AMD.
Each copy of the less common G version of was associated with 0.62 times odds of the condition compared to people with two copies of the A version.
Mutations in TIMP3 have been shown to induce abnormal blood vessel growth, and the gene has previously been linked to Sorsby&#8217;s fundus dystrophy, a condition with many features in common with AMD.
<h6>A Reevaluation</h6>
However, researchers had previously determined that TIMP3 was not linked to AMD.
The newly published results may lead to a reevaluation of this gene&#8217;s importance.
The authors of the Michigan/Penn/Mayo study acknowledge that because the effects of the SNPs identified in the two new studies are small, and the versions associated with decreased risk are rare, neither variant may be that important for prediction of AMD risk in the general population.
But they echo the sentiment of the authors of the Tufts/MGH study that this research may have identified a biological pathway–HDL cholesterol level regulation–that might be exploited for prevention or treatment.
They note that for psoriasis, an <a href="https://en.wikipedia.org/wiki/Ustekinumab" target="_blank" rel="noopener noreferrer">effective treatment</a> that targets the product of the IL23 gene has been developed, even though common variations in this gene have only a small effect on the overall risk for psoriasis.
Note: Effect sizes of the variants taken from Neale et al., authors of the Tufts/MGH study.

Genetic Associations with Brain Aneurysm

The tenth anniversary of the completion of the first draft of the human genome is approaching, apparently putting a lot of scientists in the mood for reflection on the past and speculation about the future of genetics.
The journal Nature has a series of opinion articles and two news articles on the subject. &nbsp; All are available online free of charge. &nbsp; There are also other human genome related materials available at <a href="https://www.nature.com/news/specials/humangenome/index.html#editorial" target="_blank" rel="noopener noreferrer">The Human Genome at Ten</a>.
<img loading="lazy" decoding="async" class="alignright size-full wp-image-6314" title="81-72" src="https://blog-api.23andme.com/wp-content/uploads/2010/04/81-72.jpg" alt="" width="377" height="282" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/04/81-72.jpg 500w, https://blogcms.23andme.com/wp-content/uploads/2010/04/81-72-300x225.jpg 300w" sizes="auto, (max-width: 377px) 100vw, 377px" />Researchers working at an NHGRI-supported large-scale sequencing center./The Broad Institute of MIT and Harvard/NHGRI multimedia gallery
<ul>
<li><a href="https://www.nature.com/nature/journal/v464/n7289/full/464674a.html" target="_blank" rel="noopener noreferrer">Has the revolution arrived? — Francis Collins</a></li>
<li><a href="https://www.nature.com/nature/journal/v464/n7289/full/464676a.html" target="_blank" rel="noopener noreferrer">Multiple personal genomes await — J. Craig Venter</a></li>
<li><a href="https://www.nature.com/nature/journal/v464/n7289/full/464678a.html" target="_blank" rel="noopener noreferrer">Point: Hypotheses First &#8211; Robert Weinberg</a></li>
<li><a href="https://www.nature.com/nature/journal/v464/n7289/full/464679a.html" target="_blank" rel="noopener noreferrer">Counterpoint: Data first &#8211; Todd Golub</a></li>
<li><a href="https://www.nature.com/news/2010/100331/full/464664a.html" target="_blank" rel="noopener noreferrer">Life is complicated — Erika Check Hayden</a></li>
<li><a href="https://www.nature.com/news/2010/100331/full/464668a.html" target="_blank" rel="noopener noreferrer">The human race — Alison Abbott</a></li>
</ul>
The British Medical Journal features a debate between two scientists over whether modern genetics is &#8220;blind alley.&#8221; &nbsp; These articles are also available free of charge.
<ul>
<li><a href="http://www.bmj.com/cgi/content/full/340/mar30_2/c1156?maxtoshow=&amp;hits=10&amp;RESULTFORMAT=&amp;fulltext=blind+alley&amp;searchid=1&amp;FIRSTINDEX=0&amp;sortspec=date&amp;resourcetype=HWCIT" target="_blank" rel="noopener noreferrer">Is modern genetics a blind alley? Yes — James Le Fanu</a></li>
<li><a href="http://www.bmj.com/cgi/content/full/340/mar30_2/c1088?maxtoshow=&amp;hits=10&amp;RESULTFORMAT=&amp;fulltext=blind+alley&amp;searchid=1&amp;FIRSTINDEX=0&amp;sortspec=date&amp;resourcetype=HWCIT" target="_blank" rel="noopener noreferrer">Is modern genetics a blind alley? No — D J Weatherall</a></li>
</ul>
It&#8217;s not just the anniversary of the draft sequence that looms. &nbsp; DNA Day, which was created in 2003 by a congressional resolution to celebrate the completion of the Human Genome Project and the 50th anniversary of the description of the double-helix structure of DNA by James D. Watson and Francis H.C. Crick, is coming up on April 25th. &nbsp; To accommodate classroom schedules, many events will be taking place on Friday, April 23rd.
We&#8217;ll be rounding up a listing of DNA Day activities in the coming week or so, but you can start your preparations by checking our listing of fun DNA activities.

Genetics: Looking Back and Looking Forward

<img loading="lazy" decoding="async" class="alignright size-full wp-image-6277" title="mtDNA tree" src="https://blog-api.23andme.com/wp-content/uploads/2010/04/mtDNA-tree.jpg" alt="" width="400" height="188" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/04/mtDNA-tree.jpg 482w, https://blogcms.23andme.com/wp-content/uploads/2010/04/mtDNA-tree-300x141.jpg 300w" sizes="auto, (max-width: 400px) 100vw, 400px" />

It&#8217;s springtime for 23andMe&#8217;s Maternal Line tree!


Each one of us can trace our ancestry back through our mother, our mother&#8217;s mother, her mother, and so on. And there is one piece of our DNA that has been inherited along that exact, maternal line.
By examining mutations in this segment of DNA, called mitochondrial DNA because it resides in parts of the cell called mitochondria, we can learn about our line of maternal ancestors &#8211; in particular, where these ancestors came from. Sets of similar, closely related maternal lines are called &#8220;haplogroups&#8221; and are given labels such as &#8220;J1c3&#8221; or &#8220;X2b&#8221;. Numerous researchers around the world study these maternal haplogroups to better understand where they originated and where people with the haplogroups have migrated over the course of thousands of years.  
23andMe interprets the haplogroups for customers based on the publications of these researchers.
All maternal haplogroups are themselves related; the relationships are represented as a &#8220;maternal line tree&#8221;.   23andMe&#8217;s version of that tree has just experienced both pruning and new growth via an extensive update.   With these changes, a customer&#8217;s particular branch (maternal haplogroup) may or may not have changed, but, overall, this new tree is far bushier, with over 1500 different haplogroup assignments possible, and over 870 haplogroups actually assigned to customers.
 
 
 
<h5>Why update the haplogroups? 
 
</h5>

Maternal haplogroups are of greatest interest if (a) they have a known history or (b) they enable people to discover others who are related to them. Scientists are continually revising the tree that indicates which mutations define each maternal haplogroup, and how all the haplogroups are related. The more up-to-date the tree used for haplogroup assignments is, the more accurate and more meaningful those assignments are. Up-to-date haplogroups enable our customers to answer questions such as the following:


a) Which haplogroup histories are relevant to me?
Your maternal haplogroup and the maternal haplogroups of your ancestors provide insights into your ancestry. Let&#8217;s say your haplogroup under 23andMe&#8217;s previous tree was H2. The known history for haplogroup H2 is very general; women with this haplogroup survived and reproduced very successfully in Europe during the Last Ice Age. Let&#8217;s say your haplogroup under 23andMe&#8217;s new tree is now H2a2. While H2 is common throughout all of Europe, research has shown that H2a is concentrated near the Caspian Sea. The history for H2a2 has yet to be written, but eventually we’ll understand, possibly through 23andMe’s research, the origin and migration history of this haplogroup that branches off from H2a.


b) To whom am I most similar?
Who are your maternal line cousins? In general the higher resolution the haplogroup, the more meaningful the sharing of a haplogroup. For example, if your haplogroup is H2, you share that haplogroup with over 600 23andMe customers; on the other hand, if your assignment is H2a2b, you share that with just over 60 customers. The common ancestor of everyone with H2a2b lived far more recently than the common ancestor of everyone with H2. People with a more specific haplogroup can begin to ask, where are we all from?   Where did our common ancestor live, and when?
23andMe also aims for consistency with other genetic services.   If all such services are using the same haplogroup definitions, then maternal haplogroups are comparable across services. 
 
<h5> 
Steps in the update 
</h5>

In the summer of 2007 when 23andMe developed its initial Maternal Line feature there was no publicly available, up-to-date tree. Therefore 23andMe used information from various sources to create a tree as up-to-date as possible and to assign haplogroups.  
Now there is a <a href="http://www.phylotree.org" target="_blank" rel="noopener noreferrer">publicly available tree </a>maintained by scientist Mannis van Oven of the Netherlands, with help from other geneticists and genetic genealogists (including 23andMe customers!). They update the tree regularly, and we used this tree (Build 7) as a guide for updating our Maternal Line feature. We recalculated every customer&#8217;s haplogroup and otherwise modified the feature to be consistent with the tree of Phylotree.org.
Many customers will see the same maternal haplogroup as in the past. Thousands, however, will see something new.  
Customer haplogroups have changed for two main reasons: (1) because of new definitions of the haplogroups, and (2) because of improved SNP results.
Some customers will see a higher resolution haplogroup.
For example, over 100 customers see a change from H4a to H4a1a. Other customers will see a major change in their haplogroup name, even though the history of that haplogroup has not changed. For example, some customers who had an H5a assignment will now see H36.   Others who had PreHV1 will now see R0. Some customers will see a less dramatic change: all customers with a J1a haplogroup will now see a J1c haplogroup. Many of these changes simply reflect relabeling of the tree by van Oven and other scientists.
The most common change is the removal of a &#8220;*&#8221; from a haplogroup label. The &#8220;*&#8221; is used to indicate that a person&#8217;s haplogroup cannot be assigned to a more specific subhaplogroup (for example H* means that a person is not in H1, H2, etc). As the maternal haplogroup tree grows, the &#8220;*&#8221; will necessarily change in meaning, so 23andMe has decided to do away with it and instead use a system in which we just assign people to the most specific haplogroup possible.  
So if you are definitely in haplogroup H, but not a part of H1, H2, etc , then you will simply be assigned to haplogroup H.
In some cases a haplogroup has been split. So some people with T2b2 will now have T2b4, while others continue to have T2b2. Sometimes customers will have less detailed haplogroups. For example, a few hundred customers go from T2b2 to T2b because T2b2 was redefined.
 
 
Send us your feedback! 

With over 870 distinct haplogroups assigned to more than 35,000 customers, we anticipate making further refinements.   If you have information regarding your mtDNA that is inconsistent with our update, please let us know at mito-feedback@23andme.com!
Reference: van Oven M, Kayser M. 2009. Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation. Hum Mutat 30(2):E386-E394. http://www.phylotree.org. doi:10.1002/humu.20921

23andMe’s New and Improved Maternal Haplogroups

<img decoding="async" class="alignright size-full wp-image-6256" title="Child's Shoes" src="https://blog-api.23andme.com/wp-content/uploads/2010/03/iStock_000009512488XSmall.jpg" alt="" width="315" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/03/iStock_000009512488XSmall.jpg 331w, https://blogcms.23andme.com/wp-content/uploads/2010/03/iStock_000009512488XSmall-274x300.jpg 274w" sizes="(max-width: 331px) 100vw, 331px" />
We’ve all fallen for a prank at some point or another — whether it be “hey, your shoe’s untied” or getting surprised at your birthday party after your friend asks you to “just pick up something from the house.” Most people become more wary as they get older but other people manage to remain fundamentally trusting and are now the sole reason spam mail continues to exist. But uncovering the genetic and environmental factors influencing gullibility would have important applications not only in Internet advertising but also in the understanding of every day human interactions.
In a study published this week in the Theoretical Journal of Social Genetics, a team of researchers from The Netherlands identified a genetic variant associated with gullibility in 3140 individuals of European ancestry who believed a spurious claim and 3315 European individuals who remained skeptical. Each copy of the G version of rs40110 increased the odds of being gullible by about 2.6 times. This variant is located within a gene called IPO11, which is involved in the transport of proteins within the cell, but the mechanisms through which this gene and rs40110 affect our ability to critically evaluate information remains unclear.
Hej Imgullbel, one of the scientists leading the study, hailed the finding as an essential step towards elucidating the genetics underlying persuasion and gullibility.
“The thought that we might be able to identify why some people are more easily taken advantage of than others — and potentially help them become less susceptible — is extremely motivating,” he announced in a press release. “I was always the butt of jokes growing up and I never knew why. Now I know a little bit — I am GG at rs40110, it turns out — and this is just the beginning.”
Indeed, other researchers studying the topic have found another gene &#8212; located near IPO11, and potentially linked &#8212; that influences gullibility, identified by studying the neurons in a part of the brain that is unusually active in people who tend to believe papers that invoke fancy brain scans.

Believe It Or Not, Researchers Find Genetic Variant Linked To Gullibility

<img loading="lazy" decoding="async" class="alignright size-full wp-image-6247" title="mosquito" src="https://blog-api.23andme.com/wp-content/uploads/2010/03/mosquito.jpg" alt="" width="350" height="260" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/03/mosquito.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2010/03/mosquito-300x223.jpg 300w" sizes="auto, (max-width: 350px) 100vw, 350px" />
Each year at least 350 million people around the world are infected by malaria parasites. &nbsp; More than one million people, mainly young children, succumb to the disease. &nbsp; But these numbers would be even higher if it weren’t for genetic adaptations that have evolved in populations living in areas where malaria is a common threat. &nbsp; New research, published recently in the<a href="https://dx.doi.org/10.1073/pnas.0912496107" target="_blank" rel="noopener"> Proceedings of the National Academy of Sciences</a>, suggests that just as malaria has put evolutionary pressure on humans, humans are causing genetic changes in malaria parasites.
Probably the most well known human genetic adaptation to malaria is the mutation in the hemoglobin gene that causes sickle cell anemia. &nbsp; When this DNA change is present in only one of a person&#8217;s two copies of the gene, the person is protected against infection with the P. falciparum type of malaria. &nbsp; Other people are protected from a different parasite, P. vivax, by virtue of a variation in the DARC gene. &nbsp; Two copies of this variation prevent a person&#8217;s red blood cells from expressing a protein called the Duffy antigen that is believed to be key for P. vivax invasion of the cells.
In Madagascar, however, it seems that the P. vivax malaria parasite may have evolved a way to infect red blood cells that does not depend on the Duffy antigen. &nbsp; If this research is substantiated by further studies, it could have important implications for vaccine development.
Blood from 661 school children from eight different study sites was analyzed for the Duffy antigen and evidence of P. vivax infection. &nbsp; Seventy-two percent of the children were Duffy-negative. &nbsp; Of these Duffy-negative kids, 8.8% showed evidence of P. vivax infection. &nbsp; A separate analysis of 183 people with symptoms of malaria showed that 17 were Duffy-negative. &nbsp; Although some of these people harbored multiple species of malaria parasites, nine had only P. vivax in their systems. &nbsp; Together these results show that Duffy-negative people are susceptible to P. vivax malaria. &nbsp; The authors point out, however, that Duffy-negative people were still less likely to experience P. vivax infection or symptoms than their peers, suggesting that invasion of their blood cells by the parasite may be somewhat impaired.
The researchers think that because people from populations that are predominantly Duffy-positive have moved into Madagascar over the past two millennia, the P. vivax parasites have had enough people in which to multiply and survive that they&#8217;ve had time to evolve new mechanisms of infection that allow them to get around the problem of Duffy-negativity.
More research will be needed to verify the findings of this study, but if these results are replicated, it will mean that researchers working to develop a vaccine against P. vivax will need to rethink their strategy.
Much of the work so far has focused on <a href="https://dx.doi.org/10.1186/1475-2875-7-S1-S9" target="_blank" rel="noopener">triggering an immune response</a> to the malaria parasite protein known to exploit the Duffy antigen for access to red blood cells. &nbsp; The idea is that if a person makes antibodies that block this protein, the end result will be the same as for people who are Duffy-negative–the parasite will be unable to infect red blood cells. &nbsp; But the authors of the current study suggest that if P. vivax can in fact utilize multiple pathways for invasion of human red blood cells, vaccine researchers should be aiming to immunize people against multiple proteins so as to cut off all avenues of infection.

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