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Most experts agree that the earliest examples of farming and animal domestication lie in the aptly named Fertile Crescent in present-day Iraq.
<h2>Earliest Farming Communities</h2>
But still, many questions have lingered over the years, especially about remnants of farming or animal domestication that have not survived to the present day.   What kind of tools did they use to farm the earliest crops? How did they transport these crops to neighboring communities? Now a new archaeological discovery in the mountains of Turkmenistan has finally given us more answers than questions, and has shed light on some of earliest farming communities in western Asia.
The finds center around discovering several model-sized carts at the archaeological site of Altyndepe, a Bronze Age settlement near Ashgabat in southern Turkmenistan. These tiny carts may have been used in ritual ceremonies or simply been young children&#8217;s toys.   However, the most interesting aspect of these carts is that they depict camels as the main beasts of burden. Archaeologists are always interested in artifacts from ancient civilizations that reveal clues about daily life, and these camel-pulled carts are a comparative jackpot.
<h2>Of Camels and Carts</h2>
An article about the carts recently appeared on the Discovery News website. They were documented by Lyubov Kircho of the Institute for the History of Material Culture at the Russian Academy of Sciences. They are described (in Russian) in the journal Archaeology, Ethnology and Anthropology of Eurasia. An English version will be published in the Proceedings of the 19th International Conference of the European Association of South Asian Archaeologists.
Archaeologists have discovered cattle-pulled carts from the region about 6,000 years ago. These carts were initially used for transporting necessities like grain but later carried other items like alabaster and the prized stone lapis lazuli from hundreds of miles away. Trade networks with neighboring communities began to spring up, and by 3,500 BC, one of the first dedicated &#8216;highways&#8217; for vehicles had been built between Altyndepe and nearby towns in present-day Iran and Afghanistan.
<h2>Influence of Climate</h2>
But by 3,000 BC, the climate was becoming more arid, and the people of Altyndepe could no longer trust their cattle-pulled carts to make the long journeys. Archaeologists already suspected that the communities must have switched to camels, which could handle the drier climate better. Now, these model carts show that their suspicions were correct; camel-pulled carts were the standard for this region and were such an integral part of daily life that miniature versions were created as children&#8217;s toys.
<h2>The Genetic History</h2>
The presence of these carts &#8211; combined with previous ideas on the sharing of ideas and culture throughout this part of Western Asia &#8211; also has implications for the genetic history of the region. It is well documented that about 10% of modern Europeans contain a genetic signature of the early agriculturalists who arrived from the Near East about 9,000 years ago, bringing their farming techniques and DNA.
Scientists now believe that while some of these Near Eastern farmers did travel west into the heart of Europe, others headed into the plateaus and foothills east of the Caspian Sea. Like their Western counterparts, these farmers brought their farming tools and techniques to the indigenous people of southern Turkmenistan. And like their Western counterparts, they probably got their genes. In fact, some genetic studies have examined the genetic makeup of modern-day residents of Turkmenistan and have found that many of these people also bear the genetic signatures of the early farmers of the Fertile Crescent.

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Archaeologists Discover Early Example of Domesticated Camels

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Nicolaus Copernicus is probably the second most famous astronomer in history (after Galileo). He is best known for being the first to propose that the Earth circles the sun, and not the other way around.
<h6>A Book</h6>
His theory ran into one problem, however. It was contrary both to conventional wisdom and Roman Catholic Church doctrine. So even though Copernicus had written his book on the subject, De revolutionibus orbium coelestium, he declined to publish it until he lay on his deathbed in 1543 to avoid eliciting unpleasant criticism from the Church.
It turns out that Copernicus was right – and not just about the solar system. De revolutionibus met with harsh criticism over the next few hundred years.   Finally, in 1835, it was dropped from the Church&#8217;s Index of Prohibited Books, where it had been for more than two centuries.
Today, Copernicus is honored as a scientific titan. Since 1833, admirers have been able to pay homage to him in the Polish city of Warsaw. But they couldn&#8217;t visit his grave; until recently, no one could find his body.

<h6>A Body</h6>
It was known that Copernicus lies somewhere in the crypt of the cathedral in Frombork, Poland, where he lived for most of his life. But there are hundreds of other individuals interred there as well. Most of their tombs are unmarked, making identification extraordinarily difficult.
For decades archaeologists have been trying to narrow down which skeleton belonged to that of the 16th century astronomer.   Recently, researchers in Poland and Sweden decided to turn to the field of ancient DNA analysis to solve this mystery.   Their results are summarized in the <a id="lol5" title="Proceedings of the National Academy of Sciences: USA" href="https://www.pnas.org/content/early/2009/07/06/0901848106.abstract" target="_blank" rel="noopener">Proceedings of the National Academy of Sciences: USA</a>.
<h6>DNA Analysis</h6>
Prior to the DNA analysis, anthropologists had performed digital facial reconstruction on many of the crypt&#8217;s skulls, in hopes that one might bear a distinct resemblance to paintings of Copernicus. In 2004, Polish scientists found a candidate.   But without more convincing evidence, they could not verify the skeleton&#8217;s identity.
This is where ancient DNA analysis comes in.   Even though DNA begins degrading immediately following death, the genetic material is often preserved in the teeth for hundreds or thousands of years. Scientists studying ancient DNA (aDNA) usually focus on the type of DNA that has the greatest chance of surviving: mitochondrial DNA (mtDNA), which is passed exclusively from mother to children. The sheer abundance of mtDNA makes it much more likely to survive; each cell contains hundreds of copies.
<h6>Some Hair</h6>
Yet even after successfully extracting mtDNA from the skeleton&#8217;s teeth, one problem remained: the researchers had no DNA for comparison. They needed to find a DNA sample from Copernicus, or one of his descendants, in order to confirm these were in fact his remains. They found that sample in a seemingly unlikely place, housed inside a copy of the 16th century astronomy reference book Calendarium Romanum Magnum. This copy was of particular interest firstly because it was the personal copy of Copernicus himself, and secondly because there were hairs stuck within the binding that the scientists hoped contained his DNA. So the researchers analyzed DNA from the hairs, hoping that both they and the teeth had preserved enough DNA for analysis.
Their hopes were realized when both teeth and hair produced definitive mtDNA profiles that matched exactly. Both belonged to haplogroup H, a branch of the human mitochondrial genetic tree that is common across Europe. These results were verified independently at three laboratories, so the possibility of contamination is minimal. Because the two DNA samples were an exact match &#8211; with not even a single letter of DNA code out of place &#8211; the researchers conclude that the skeleton   whose facial features so much resembled Copernicus had to be that of the famous astronomer.
But now that they knew his identity, these authors decided to run one more analysis on Copernicus&#8217; remains.   They were able to study a particular genetic marker, or SNP, found in the gene HERC2 that is believed to play a role in determining eye color. The authors found that Copernicus had a version of the SNP that predisposed people to a light eye color, such as blue or gray.   This is quite intriguing, as almost all paintings of the astronomer show him with dark brown eyes.

DNA Analysis Confirms Remains of Nicolaus Copernicus

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There&#8217;s a high likelihood that a disease of some sort affects you or one of your relatives – every family seems to have ripples in its gene pool that define and shape its health dynamics.
Your family might have a propensity for rheumatoid arthritis or a particular type of cancer. Whatever it is, there can be an instant family bond created by that disease – along with a sense of fate.
That feeling moves some families to action. The Heywood brothers started <a href="http://www.patientslikeme.com" target="_blank" rel="noopener noreferrer">PatientsLikeMe</a> when one of them, Stephen, was diagnosed with Lou Gehrig&#8217;s disease in 1998. Nancy Brinker created a huge force in breast cancer research through the <a href="http://www.komen.org/" target="_blank" rel="noopener noreferrer">Susan G. Komen Foundation</a>, named for her sister who died of that disease. Michael J. Fox, a father of four, started his remarkable <a href="http://www.michaeljfox.org/" target="_blank" rel="noopener noreferrer">foundation</a> after he was diagnosed with Parkinson&#8217;s disease at the age of 30.
But not everyone can garner the resources to create their own company or foundation; it&#8217;s hard to know where to turn in trying to make a difference. This summer, 23andMe is launching the <a href="https://www.23andme.com/researchrevolution/" target="_self" rel="noopener noreferrer">Research Revolution</a> to empower more people to jumpstart genetic research into the diseases that affect them and the people they love.

This new research model makes it possible for large groups of people to assemble themselves into large-scale genetic studies without having to raise millions of dollars in funding, and then wait years for things to get rolling. Participants also get access to their own genetic information through the 23andMe Personal Genome Service Research Edition, which offers a snapshot of what their data says about more than 100 diseases and traits. We believe that if you volunteer for research, you should be able to see what you&#8217;ve contributed to the effort.
The Research Revolution is going to start with the 10 diseases listed at the bottom of this post. There are several ways you can participate:
* Visit the <a href="https://www.23andme.com/researchrevolution/" target="_self" rel="noopener noreferrer">Research Revolution page</a> and vote for the disease you would most like 23andMe to study. 
* If you&#8217;re already a 23andMe customer, log into your account and complete any of the 23andWe <a href="https://www.23andme.com/you/23andwe/surveys/" target="_self" rel="noopener noreferrer">surveys</a> you haven&#8217;t taken yet. 
* Spread the word – especially to people who are patients or survivors of the 10 diseases we&#8217;re featuring.
There&#8217;s strength in numbers. The more people who enroll in the Research Revolution, the more likely it is to make new discoveries about the causes and about the treatments of disease.
Long live the revolution!
The 10 Research Revolution diseases are:
ALS 
Celiac Disease 
Epilepsy 
Lymphoma and Leukemia 
Migraines 
Multiple Sclerosis 
Psoriasis 
Rheumatoid Arthritis 
Severe Food Allergies 
Testicular Cancer

Introducing a Do-It-Yourself Revolution in Disease Research

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Schizophrenia, a devastating mental illness that affects about one out of every 100 people, is known to have a large genetic component. But scientists have had little luck in finding genes that are responsible for large numbers of cases.   This in turn has hindered the search for new treatments that could provide relief to the tens of millions of schizophrenics worldwide.
But now new research has identified several common DNA variants that can influence the risk of developing schizophrenia. The key to this new success was data sharing &#8211; three large consortia combined their data to enable analysis of almost 13,000 people with schizophrenia and more than 34,000 controls.
All three research groups (<a href="https://dx.doi.org/10.1038/nature08186" target="_blank" rel="noopener">SGENE</a>, <a href="https://dx.doi.org/10.1038/nature08185" target="_blank" rel="noopener">International Schizophrenia Consortium</a> and the <a href="https://dx.doi.org/10.1038/nature08192" target="_blank" rel="noopener">Molecular Genetics of Schizophrenia</a> group) found that variants in a region of DNA that harbors multiple immune-related genes are strongly associated with schizophrenia.   Their results, published this week in Nature, fit with previous data suggesting that there is an autoimmune component to the disease.   These ideas stemmed from data showing that schizophrenics are more likely to be born in the winter or spring, the height of flu season.
As an example of one of these immune region variants, the SGENE analysis found that each C at increased the odds of schizophrenia by 1.19 times compared to someone with two Ts at this SNP.
The SGENE researchers associated two other variants with schizophrenia – in the NRGN gene on chromosome 11 and in the TCF4 gene on chromosome 18 –  that are known to be involved in brain development and cognition. These findings may open up avenues into research for new treatments able to address problems with decision-making and memory in ways that current schizophrenia medications do not.
The NRGN is expressed exclusively in the brain where it plays an important role in chemical pathways related to memory. Each copy of the more common T version of increased the odds of schizophrenia by 1.15 times compared to two copies of the C version.
The protein encoded by the TCF4 gene is essential for normal brain development.   Mutations in this gene have been associated with several disorders characterized by mental retardation.   Each copy of the C version of increased the odds of schizophrenia by 1.23 times.
Last year, several studies suggesting that <a href="https://blog.23andme.com/2008/03/28/schizophrenia-genetics-in-science-snps-are-only-one-piece-of-the-puzzle/" target="_blank" rel="noopener">rare insertions and deletions</a> in the DNA were common in schizophrenia cast doubt on whether genomewide association studies would ever identify common genetic variants associated with the disease. But the results of the International Schizophrenia Consortium show that there are in fact thousands of common variants that show at least some association with schizophrenia.   The authors say that although the effect of each individual variant is small, together they account for at least a third of the disease risk.
&#8220;Our results do not exclude important contributions of rare variants for schizophrenia,&#8221; the authors write. But their results do show that sequencing and studies of insertions and deletions cannot be the only methods used to study the genetics of schizophrenia. Further genomewide association studies of common variations will also need to be undertaken.
The International Schizophrenia Consortium analysis also found that many of the variations associated with schizophrenia are also associated with bipolar disorder, a finding at odds with the traditional view of psychiatrists that the two are distinct diseases.
&#8220;These new results recommend a fresh look at our diagnostic categories.   If some of the same genetic risks underlie schizophrenia and bipolar disorder, perhaps these disorders originate from some common vulnerability in brain development,&#8221; said Dr. Thomas Insel, director of the National Institute of Mental Health, in a statement.
&#8220;Of course the big question then is how some people develop schizophrenia and others develop bipolar.&#8221;

Researchers Show Importance Of Common DNA Variants In Schizophrenia

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Not many people could survive the harsh conditions of the Sahara Desert.   Yet the Tuareg have lived in the the region for millennia.
<h6>Free People</h6>
The Tuareg call themselves the Imazghan, meaning &#8220;free people.&#8221; Today they are known for a distinctive dark blue turban worn by the men, and for their long history as gatekeepers of the Sahara Desert. They are a semi-nomadic people who inhabit the West-Central Sahara, which encompasses parts of western Libya, Algeria, Mali, Niger, and some neighboring countries.
The Tuaregs were first mentioned by the ancient Greek historian Herodotus, who spoke of a group known as the Garamantes living in the Fezzan region of southwest Libya that operated trans-Saharan trade routes, connecting the heart of Africa to the North African coast. It is now believed that he was speaking of the Tuareg.
<h6>Uncovering a mystery with DNA</h6>
Though known to scholars since Herodotus&#8217; depiction thousands of years ago, the Tuaregs remain shrouded in mystery. Their extreme isolation in one of the earth&#8217;s harshest environments has made them difficult for cultural anthropologists to study.   There have been only a handful of studies published on the Tuaregs&#8217; genetic history, and even these examined only the genetics of western Tuaregs from Mali, Niger and Nigeria. The eastern Tuaregs who inhabit the Fezzan of Libya remain far less studied.
So a team of scientists decided to rectify this lack of genetic data, analyzing the mitochondrial DNA (mtDNA) of more than 100 Tuaregs from the Fezzan region of Libya. Their results are reported in the July issue of Annals of Human Genetics.
<h6>A Surprising Haplogroup</h6>
The authors chose to analyze the mtDNA for a variety of reasons, but mostly as a way of comparing their results to the previous genetic studies that had also used mtDNA.
After extracting the DNA of the Tuaregs and assigning each individual to a specific maternal ancestry branch, or haplogroup, they found that the majority of Tuaregs fell into the same haplogroup: H1. In fact, over 61% of the individuals bore haplogroup H1.
This piqued the researchers&#8217; interest, mainly because H1 is often thought to have spread with people from the Iberian peninsula across Europe after the end of the Last Ice Age about 12,000 years ago. The results of this study indicate that somehow H1 must have traveled into North Africa as well.
<h6>Genetic Isolation</h6>
Not only did the researchers find that so many Tuaregs bear the same maternal haplogroup, but there was low genetic diversity among the population overall. This low genetic diversity can be tied to the fact that the Tuaregs are a very isolated people, and it is uncommon for them to venture too far outside their community when looking for a spouse. Indeed it seems that these Libyan Tuaregs are even genetically isolated from their West African counterparts, who showed far less European ancestry and far more ancestry tracing back to sub-Saharan Africa, despite the fact that both eastern and western Tuaregs share a common language and culture.
The authors have used these bits of information to piece together a scenario for the origins of the Libyan Tuaregs.
<h6>The Tuaregs Origins</h6>
Environmental data reveal that, about 5,000 years ago, the Sahara was quickly shifting from its post-Ice Age period of relative stability and good living conditions to a less stable and more arid environment.
This shift, the authors propose, was responsible for a series of human migrations throughout the Sahara that led different Tuareg groups living in the region to separate.   It caused other Tuareg groups to intermingle with neighboring groups.   Some Tuaregs, like those in Mali, Niger, and Nigeria, probably had more contact with sub-Saharan West Africans, which accounts for the higher percentage of sub-Saharan maternal haplogroups found by previous genetic studies.
Others, like the Libyan Tuaregs analyzed here, may have met and mingled with groups such as the Berbers of the Mediterranean coast of North Africa.   Apparently migrations from Spain after the Last Ice Age, across the Strait of Gibraltar into Morocco, brought H1 into the African continent. It then made its way into the North African Berber populations, eventually finding its way into the Libayan Tuaregs.
And what of the 35% of Libyan Tuaregs with sub-Saharan African genetic ancestry?   The authors of this study believe this to be a genetic signature of the trans-Saharan slave trade, which the Libyan Tuaregs famously operated during the 1st century BC, and which brought them to the attention of Herodotus so many years ago.

People of the Veil: New Study Reveals Clues to Origins of the Nomadic Tuaregs

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On August 20, 79 AD, a series of small tremors and earthquakes began to shake the two ancient Roman cities of Pompeii and Herculaneum.
<h6>Vesuvius</h6>
Lying in the shadow of Mount Vesuvius – about 150 miles south of the Roman capital – the two cities were often hit by tremors and earthquakes, so most residents were unperturbed.   After all, the tremors were relatively mild, especially compared to a severe earthquake that had hit both towns 17 years earlier.
They did not know, however, that this new string of tremors was in fact due to increasing pressure inside Mount Vesuvius; they did not know that Mount Vesuvius was in fact an active volcano; and they did not know that it was about to erupt.
Just four days later, on August 24, Vesuvius did just that.   The cities of Pompeii and Herculaneum were taken completely off guard.
<h6>No Escape</h6>
So much so, in fact, that many residents were unable to escape the rain of pumice and ash that fell to dozens of meters high, burying people inside their homes.   Even those who did survive the ash were unable to outrun the pyroclastic flow, a wave of white-hot cinders that tumbled down Mt. Vesuvius at over 100 mph.   In just a few days, these cities became buried, and soon were forgotten.

Pompeii and Herculaneum remained buried for the next 1,600 years, when military engineers digging a new course for the River Samo uncovered what looked to be an underground city.   They had found the remains of the buildings, houses and plazas that made up these two ancient Roman cities.   And &#8211; perhaps more importantly &#8211; they found the remains of the inhabitants, often almost perfectly preserved.
<h6>Analyzing Remains</h6>
This was especially true for the remains of 13 individuals, hidden inside a villa belonging to a Pompeii resident named Caius Iulius Polybius.
Inside the villa, two individuals were still holding hands; another was clutching her stomach, the remains of her unborn child still inside. Archaeologists have spent many decades trying to uncover as much as possible about these and the other thousands of individuals found buried in Pompeii and Herculaneum.   Now geneticists have entered the fray, using sophisticated techniques to extract and analyze the DNA of these 13 individuals with the goal of understanding the relationships between them.   The results of this analysis are published in the July issue of the the Annals of Human Genetics.
The research team, led by Giovanni de Bernado from the University of Naples, extracted the mitochondrial DNA (mtDNA) from all 13 individuals.
The mtDNA is passed down, almost always unchanged, from a mother to her children. So researchers can conclude that individuals in a grave or archaeological site who share similar or identical mtDNA profiles &#8211; known as haplogroups &#8211; are likely related to each other along the maternal line. The mtDNA is also useful in archaeology because it is more likely to remain preserved long after an individual dies.
But there can be problems with preservation when analyzing mtDNA, and that is exactly what happened with a few of the remains.   Di Bernado and his team were unable to extract mtDNA from three of the individuals.   But for the others, they were successful.
<h6>Familial Relationships</h6>
In fact, six of the individuals yielded an identical maternal haplogroup assignment:   T2b.   T2b exists in about 4-5% of modern Italians, making it one of the rarer haplogroups in the region.   So for it to exist at such high levels within a single household almost certainly proves some kind of familial relationship between the inhabitants of this house.
Who were the individuals bearing the T2b haplogroup?   Four children ranging in age from three to 14, a young woman of about 18 years, and a man of about 30 years. Di Bernado argues that the four children were probably siblings (or at least cousins), that the 18 year-old woman could perhaps be an older sister or aunt, and the man is likely to be a maternal uncle.   Unfortunately, one of the female remains &#8211; who would be an ideal candidate as the childrens&#8217; mother, yielded no reliable mtDNA type.   The remaining individuals bore different haplogroups, and may have represented the father or paternal grandparents.   There is also the possibility that one of the adult women was a mistress of the head of the household, something not uncommon in ancient Rome.
For many years, the identities of the Pompeian and Herculanean victims&#8217; remains, entombed in ash and cinders, have both haunted and intrigued scientists.   Now, with efforts such as the ones performed here by Di Bernado and colleagues, we are learning more about who they were in life, and not just about their final moments.

Ancient DNA Analysis Reveals Family Ties in Ruins of Pompeii

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Study after study has shown that high blood levels of C-reactive protein (CRP), a marker of inflammation, are associated with increased risk of cardiovascular disease. But what hasn&#8217;t been clear is whether CRP actually causes heart disease, or just indicates the presence of artery-blocking atherosclerosis.
Researchers from Imperial College London set out to answer this question using a genetic approach.   They reasoned that if high CRP levels really do cause heart disease then genetic variants associated with increased CRP should also be associated with increased heart disease risk.   Their results, published today in <a href="http://jama.ama-assn.org/cgi/content/full/302/1/37?home" target="_blank" rel="noopener">Journal of the American Medical Association</a>, indicate that CRP might not be a key player after all.
Using a sample of 28,000 heart disease patients and 10,000 controls, Paul Elliott and colleagues examined several SNPs in the CRP gene. They found a significant association between the SNPs and CRP levels, and between CRP levels and heart disease – but not between the genetic variations and heart disease.
For example, each T at rs1205 lowered CRP by 20%.   Based on previous studies of CRP, this should have translated into 6% lower odds of heart disease. But there was no association of rs1205 with heart disease at all.
The researchers also identified four SNPs in other genes that were associated with CRP levels.   One was associated with heart disease in the expected direction (that is, the version associated with lower CRP was also associated with decreased heart disease risk). But two others had an inverse relationship with heart disease risk.   The final SNP affected CRP levels but had no relationship with heart disease risk either way.
Medical Implications
The JUPITER trial, published in the <a href="http://content.nejm.org/cgi/content/full/NEJMoa0807646" target="_blank" rel="noopener">New England Journal of Medicine</a> in November, showed that middle-aged men and women with low LDL cholesterol (below 130 mg/dL), but high CRP (greater than 2 mg/L) reduced their CRP levels by 37% and cut their risk of heart attack by 54% by taking rosuvastatin (Crestor ®).
These results suggest that CRP should be taken into account when deciding whether to prescribe statins to a patient, a move that would result in millions more Americans taking the drugs.
But the results of this new genetic study suggest that lower CRP doesn&#8217;t necessarily translate into a lower heart disease risk.   These findings support skeptics of the JUPITER trial, who argued that the improvements in cardiovascular disease risk seen with rosuvastatin treatment could have been due solely to their reduction (50%) of the study participants&#8217; already low cholesterol levels.
But the new study doesn&#8217;t necessarily mark end of the road for CRP testing.   In an <a href="http://jama.ama-assn.org/cgi/content/extract/302/1/92" target="_blank" rel="noopener">editorial</a> accompanying the new report in JAMA, Svati Shah and James de Lemos argue that even if CRP does not cause heart disease, it might still be valuable as a marker for identifying people who are at risk but do not exhibit traditional indicators such as high cholesterol.

Genetic Study Casts Doubt On Inflammatory Marker As Cause of Heart Disease

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Much to the surprise of many scientists, a lot of the SNPs identified in genome wide association studies have not been in the parts of genes that encode the molecular machinery of a cell.
Instead, many SNPs have been found on the edges of genes, in regions of DNA that control when the genes get turned on or off, in parts of genes that get cut out before the final proteins are made, or even in so-called &#8220;gene deserts,&#8221; areas of DNA that don&#8217;t seem to contain any genes at all.
Rs6983267 is one of these gene desert SNPs.   People with two copies of the G version of this SNP have about 1.4 times the odds of developing colorectal cancer compared to people who have two Ts, but so far no one has been able to figure out why.   Two new reports show that, even though this SNP seems to be out in the middle of nowhere in the genome, it can interact with components of a signaling pathway known to be overactive in more than 90% of all colorectal cancers.
Results from <a href="https://dx.doi.org/10.1038/ng.406" target="_blank" rel="noopener">Tuupanen et al.</a> and <a href="https://dx.doi.org/10.1038/ng.403" target="_blank" rel="noopener">Pomerantz et al.</a>, both published online this week in the journal Nature Genetics, show that the region of DNA containing rs6983267 is an &#8220;enhancer&#8221; that can turn up the amount of protein made from the MYC gene. The riskier G version of the SNP appears to make the enhancer stronger than the T version.
In colorectal cancer, increased MYC expression can often be traced to overactivity of a molecular signaling pathway known as <a href="https://en.wikipedia.org/wiki/Wnt_signaling_pathway" target="_blank" rel="noopener">Wnt</a>.   Both groups of researchers found that the region of DNA containing rs6983267 was responsive to Wnt signaling, thus connecting this SNP to a well-established cancer mechanism.
Drugs that attack the Wnt pathway are attractive candidates for cancer therapies.   According to Tuupanen et al., the new results suggest that these same types of drugs might be useful for personalized cancer prevention treatments in people who carry the riskier version of rs6983267.

Better Understanding of Colorectal Cancer-Associated SNP Could Guide Treatment

<img loading="lazy" decoding="async" class="alignright size-full wp-image-3892" title="istock_000003316166xsmall" src="https://blog-api.23andme.com/wp-content/uploads/2009/06/istock_000003316166xsmall.jpg" alt="istock_000003316166xsmall" width="332" height="220" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/06/istock_000003316166xsmall.jpg 425w, https://blogcms.23andme.com/wp-content/uploads/2009/06/istock_000003316166xsmall-300x199.jpg 300w" sizes="auto, (max-width: 332px) 100vw, 332px" />
Not surprisingly, there has been intense interest in the genetics of obesity in recent years.   Obesity is a major health problem, resulting in tens of thousands of premature deaths and billions of dollars in healthcare costs each year in the United States, and it is known from twin and family studies that weight is a highly heritable trait.
The genetic mutations and variations identified so far explain only a small percentage of the variability in body mass seen in the population.   Some exciting clues have been found, however, as to why some people are more prone to obesity than others and how this might be counteracted.   But new research, published online this week in the <a href="http://www.cell.com/AJHG/abstract/S0002-9297(09)00238-9" target="_blank" rel="noopener">American Journal of Human Genetics</a>, shows that caution must be taken in moving from genetic discoveries to drug development.
Variations in the FTO gene have consistently been associated with obesity. On average, people who carry two copies of the &#8220;risky&#8221; version of this gene weigh six to eight pounds more than those who carry none. Mice completely lacking the FTO gene were shown to be leaner than their normal littermates, despite being less active.   These results have led some to suggest that inhibiting the FTO protein with a drug could be a good for obesity treatment or prevention.
(23andMe customers can see their FTO data in the Obesity Research Report.)
But an international team of researchers led by Sarah Boissel of the UniversitÃ© Paris Descartes in France has found that a mutation that interferes with the function of the FTO protein is associated with a lethal genetic condition.   Members of a large, inbred Palestinian family born with two copies of this mutation had multiple developmental abnormalities and died before the age of three.   Based on their results, Boissel and her colleagues warn that any research exploring the use of FTO inhibitors as obesity treatments must include a &#8220;careful assessment&#8221; of the potential to cause birth defects and other toxic side effects.
More about FTO:
<a href="https://blog.23andme.com/2008/12/11/snpwatch-gene-variant-linked-to-obesity-affects-food-choices-in-children/" target="_blank" rel="noopener">SNPwatch: Gene Variant Linked to Obesity Affects Food Choices in Children</a>
<a href="https://blog.23andme.com/articles/it%E2%80%99s-not-genes-or-environment-it%E2%80%99s-genes-and-environment" target="_blank" rel="noopener">It’s Not Genes or Environment, It’s Genes AND Environment</a>

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