<img loading="lazy" decoding="async" class="alignright size-full wp-image-5081" title="iStock_000009029824XSmall" src="https://blog-api.23andme.com/wp-content/uploads/2009/10/iStock_000009029824XSmall.jpg" alt="iStock_000009029824XSmall" width="300" height="198">
The Near East — a swath of land that encompasses the Arabian Peninsula, the Levant, and everywhere in between — has been populated by humans longer than anywhere else in the world save Africa. It is where agriculture was born and spread into Eurasia. It is where the ancient civilizations of Mesopotamia and Egypt evolved and flourished. And it is where a particular paternal haplogroup, J1e, arose about 10,000 years ago.
<h6>Fathers and Sons</h6>
Paternal haplogroups define a person&#8217;s all-male ancestry (i.e. the origins of your father’s father’s father, etc.), and are passed down from father to son via the Y chromosome. Haplogroup J1e has long interested experts because it seems to have expanded and flourished in the harsh deserts of Arabia.
Today it is quite common among Bedouin nomads from Saudi Arabia, United Arab Emirates, and Oman, as well as in men from Turkey, Ethiopia, and the Levant.
<h6>Nomads</h6>
In 2008, scientists at Stanford University proposed that the presence of J1e throughout the Near East could be tied to the nomadic hunter-herders who have dotted the region for thousands of years.
In the October 14 issue of the <a href="https://www.nature.com/ejhg/journal/vaop/ncurrent/abs/ejhg2009166a.html">European Journal of Human Genetics</a>, these same scientists — including 23andMe consultants Roy King and Peter Underhill and 23andMe scientist Brenna Henn — test this theory with a little help from the field of linguistics.

The authors analyzed the DNA of more than 500 men from nearly 40 locations throughout the Near East.
While many of these men belonged to haplogroup J1e, there were small genetic variations within J1e based on exactly where these men lived. For example, J1e samples from Turkey were slightly different from those in Oman.
<h6>A Connection to Language</h6>
When the authors examined differences among the ancient peoples of the Near East, they discovered that the languages spoken in different parts of the region were quite distinct. Until the Arabic swept across the Near East more than 1,000 years ago, there were dozens of languages spoken in the region. These include languages such as Aramaic in Syria, Babylonian in Iraq, and Canaanite from Lebanon to Jordan. The majority of these tongues are now extinct. However, all belong to the same Semitic language family, to which Hebrew and Arabic also belong.
The authors reasoned that the history of these ancient languages may be tied to the people who spoke them. The history of these ancient people could be deciphered further by examining their genetic ancestry via paternal haplogroup J1e.
The researchers&#8217; combined analysis of the J1e types and the ancient Semitic languages revealed some startling results. The authors found that J1e arose in Anatolia (present-day Turkey). Then about 10,000 years ago they expanded southward toward Arabia.
<h6>Semitic Langauges</h6>
Limited archaeological evidence supports such an expansion. Hunter-gatherer groups, using bow-and-arrow technology and with the help of domesticated dogs, headed south into the heart of the Near East. Soon after they began expanding, the hunter-gatherers took up herding, domesticating animals like cattle and goats.
The linguistic evidence lends additional support. The common ancestor of all Semitic languages, called proto-Semitic, originated about 7,500 years ago. This corresponds with when J1e was expanding. More importantly, the spread of proto-Semitic coincides with the spread of hunter-herders across the Near East.
So what does all this mean?
The expansion of haplogroup J1e is closely tied to the expansion of the Semitic languages. And they are both linked to the expansion of hunter-herders. It was hunter-herders who journeyed from Anatolia southward into Arabia thousands of years ago. We now know just a little bit more about the ancient history of this fascinating region.

23andMe Blog

23andMe Blog Team

Linguistics Key to History of Paternal Haplogroup J1e

<img loading="lazy" decoding="async" class="alignright size-full wp-image-3114" title="bloodcells" src="https://blog-api.23andme.com/wp-content/uploads/2009/03/bloodcells.jpg" alt="bloodcells" width="290" height="215" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/03/bloodcells.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2009/03/bloodcells-300x223.jpg 300w" sizes="auto, (max-width: 290px) 100vw, 290px" />
Doctors routinely order the complete blood count (CBC) for their patients because they can learn a lot about a person&#8217;s health by measuring the numbers of different types of blood cells in the circulation, their sizes and the ratios between them.
One component of the CBC is usually a measure of the total amount of hemoglobin, the oxygen carrying protein found in red blood cells.   Low levels of hemoglobin can be a sign of nutritional deficiency, autoimmune disease or bone marrow problems, and may result in fatigue, irregular heartbeat and poor growth in children.   Abnormally high levels of hemoglobin can be caused by heart failure, COPD or kidney cancer and are associated with increased risk of stroke.
New research published online in the journal <a href="https://dx.doi.org/10.1038/ng.462" target="_blank" rel="noopener noreferrer">Nature Genetics</a> this week identifies two SNPs that account for a small amount of the variation in hemoglobin levels seen in the population and may help scientists find new ways to treat blood disorders.
John Chambers and colleagues analyzed the DNA from more than 11,000 Europeans in England and Finland and more than 16,000 Indian Asians living in London.   They found and both impacted hemoglobin levels.
In both the European and Indian study groups, each A at and each G at led to an approximately 0.1 gram per deciliter (g/dL) decrease in hemoglobin levels. The normal range for hemoglobin levels in adults is 12 to 18 g/dL.
Approximately 25% of the world&#8217;s population has hemoglobin levels low enough to be considered anemic.   The <a href="http://www.who.int/nutrition/publications/micronutrients/anaemia_iron_deficiency/9789241596657/en/index.html" target="_blank" rel="noopener noreferrer">World Health Organization</a> has deemed anemia a severe public health problem in India.   Although nutritional iron deficiencies are a large part of the problem in this and other countries with high levels of anemia, it is interesting to note that the versions of and that lead to lower hemoglobin levels were found at higher frequencies in the Indian study subjects.
Both SNPs identified in this study are in or near genes involved in regulating the body&#8217;s iron levels. One of the SNPs is near the HFE gene.   Mutations in this gene cause hereditary hemochromatosis, a condition that can result in iron overload.   The researchers found, however, that the effect of is not related to these mutations. Another SNP is located in the TMPRSS6 gene.   Mutations in this gene have been shown to cause a serious form of anemia that does not respond to treatment with oral iron supplements.   Chambers says that learning more about how this gene contributes to hemoglobin levels could lead to new treatments for people suffering from chronic hemoglobin problems.
&#8220;The enzyme protein produced by the TMPRSS6 gene is a good target for drug development. Designing a drug that enhances TMPRSS6 activity could augment hemoglobin in people such as cancer and kidney failure patients, who suffer from chronically low levels. A different drug that blocked TMPRSS6 enzyme production might bring down high hemoglobin levels,&#8221; he said in a statement.
Several other reports published online this week in Nature Genetics (<a href="https://dx.doi.org/10.1038/ng.456" target="_blank" rel="noopener noreferrer">Benyamin et al.</a>, <a href="https://dx.doi.org/10.1038/ng.467" target="_blank" rel="noopener noreferrer">Soranzo et al.</a> and <a href="https://dx.doi.org/10.1038/ng.466" target="_blank" rel="noopener noreferrer">Ganesh et al.</a>) also examined genetic contributions to blood traits.   These will be covered later this week here in the Blog.   Benyamin et al. and Ganesh et al. also both found evidence for an association between and hemoglobin concentration.

Genetic Variations Influencing Hemoglobin Levels Identified

<img loading="lazy" decoding="async" class="alignright size-full wp-image-5013" title="dnaoragami" src="https://blog-api.23andme.com/wp-content/uploads/2009/10/dnaoragami.jpg" alt="dnaoragami" width="340" height="226" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/10/dnaoragami.jpg 400w, https://blogcms.23andme.com/wp-content/uploads/2009/10/dnaoragami-300x200.jpg 300w" sizes="auto, (max-width: 340px) 100vw, 340px" />A segment of chromosome 14 folded to reveal a fractal curve using Origami. Designed and folded by Jason Ku. Photo by Erik Demaine. 
How do you get three billion pairs of As, Cs, Ts and Gs–about six feet worth of DNA–into the nucleus of a tiny cell?
Most students of biology would answer by saying that this is accomplished by tightly coiling up the DNA.
Oh yeah?
Well, how is it coiled?
<h6>Tighten Up</h6>
As cells perform different functions and respond to different environmental signals, proteins that help turn genes on and off need to quickly gain access to different parts of the genome.   That means DNA needs to be arranged in such a way that it won&#8217;t get all tangled up.
Packing DNA like luggage at the end of a vacation, with everything smashed together and shoved in any which way, just won&#8217;t cut it.
<h6>Hi-C</h6>
Using a new technique called &#8220;Hi-C,&#8221; researchers at Harvard, MIT and the University of Massachusetts appear to have solved the riddle. Their results, published today in the journal <a href="https://dx.doi.org/10.1126/science.1181369" target="_blank" rel="noopener noreferrer">Science</a>, show that nature has devised quite an elegant storage solution.
<img loading="lazy" decoding="async" class="alignleft size-full wp-image-5055" title="globules2" src="https://blog-api.23andme.com/wp-content/uploads/2009/10/globules2.jpg" alt="globules2" width="258" height="508" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/10/globules2.jpg 258w, https://blogcms.23andme.com/wp-content/uploads/2009/10/globules2-152x300.jpg 152w" sizes="auto, (max-width: 258px) 100vw, 258px" />Equilibrium (top) and fractal (bottom) globules. Nearby regions on a chain of DNA are indicated using similar colors. The equilibrium globule is highly entangled; regions nearby along the chain are far apart in 3D. In the fractal globule, regions nearby along the chain are also nearby in 3D. Images: Leonid A. Mirny and Maxim Imakaev 
The scientists first treated cells with formaldehyde to freeze the DNA in place.   They then used enzymes to break the DNA apart and put it back together in a different configuration.
A final step of sequencing allowed them to identify pieces of DNA that are naturally close together in the nucleus.
&#8220;We made a fantastic three-dimensional jigsaw puzzle and then, with a computer, solved the puzzle,&#8221; said co-first author Nynke van Berkum in a statement.
Two important aspects of DNA organization emerged.   First, there are two main compartments in the nucleus — one for DNA that is in use and one that acts as a storage facility for unneeded sequences.
&#8220;Cells cleverly separate the most active genes into their own special neighborhood, to make it easier for proteins and other regulators to reach them,&#8221; said one of the paper&#8217;s senior authors, Job Dekker of UMass Medical School, in a statement.
<h6>Globule of Globules</h6>
The other striking aspect of the nucleus is that chromosomes appear to be folded up into an arrangement called a fractal globule, which the authors described as a &#8220;beads-on-a-string&#8221; configuration.   Multiple rounds of &#8220;crumpling&#8221; of the DNA into beads leads to a &#8220;globule-of-globules-of-globules.&#8221;
Previous models suggested that DNA was in a more random arrangement called an equilibrium globule.   This configuration, however, is known to be prone to dense knotting.   Fractal globules are knot-free.
Image Source: Harvard School of Engineering and Applied Sciences

Research Reveals How Our Cells Pack in All That DNA

<img loading="lazy" decoding="async" class="alignright size-full wp-image-4987" title="alexandraandalexei" src="https://blog-api.23andme.com/wp-content/uploads/2009/10/alexandraandalexei.jpg" alt="alexandraandalexei" width="350" height="347" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/10/alexandraandalexei.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2009/10/alexandraandalexei-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2009/10/alexandraandalexei-300x297.jpg 300w" sizes="auto, (max-width: 350px) 100vw, 350px" /> 
Empress Alexandra Feodorovna and Prince Alexei, 1911.
Editor&#8217;s note: June 4, 2024, This post has been updated.
From the <a href="https://blog.23andme.com/articles/inbreeding-doomed-habsburg">Habsburgs of Austria</a> to the Romanovs of Russia, the quest for maintaining &#8220;pure&#8221; bloodlines has often haunted royal dynasties throughout history. The princes of early 20th-century Europe were no exception.
The source of their wealth and power &#8212; the royal blood coursing through their veins &#8212; could also sentence them to an early death.
<h2>Blood Disorder</h2>
A mutation that spontaneously arose in the DNA of Britain&#8217;s Queen Victoria doomed many of her male descendants to the bleeding disorder known as hemophilia. The mutation is known to have been on one of her X chromosomes, but because it didn&#8217;t last beyond the fourth generation, scientists have never been able to tell which type of hemophilia plagued the princes of Europe.
Now researchers studying the remains of the Romanovs, the Russian royals killed at the start of the Bolshevik revolution, appear to have finally identified the &#8220;<a href="https://www.23andme.com/gen101/variation/hemophilia/" target="_blank" rel="noopener">royal disease</a>.&#8221;
<h2>The Romanovs</h2>
Empress Alexandra, wife of Emperor Nicholas and granddaughter of Queen Victoria, is known to have been a carrier for the royal hemophilia mutation because her son, Crown Prince Alexei, was afflicted with the disease.
By analyzing the X chromosome DNA in Alexandra&#8217;s remains, Evgeny Rogaev and colleagues uncovered a tiny, single-base DNA change in the gene that encodes factor IX, an essential blood-clotting protein.
This result, published online today in <a href="http://www.sciencemag.org/cgi/content/abstract/sci;1180660v1?maxtoshow=&amp;HITS=10&amp;hits=10&amp;RESULTFORMAT=&amp;fulltext=royal+disease&amp;searchid=1&amp;FIRSTINDEX=0&amp;resourcetype=HWCIT" target="_blank" rel="noopener">Science Express</a>, indicates that the royal families of Europe suffered from <a href="http://www.nlm.nih.gov/medlineplus/ency/article/000539.htm" target="_blank" rel="noopener">hemophilia B</a>.   This form of the disease is about seven times less common than classic hemophilia (also called <a href="http://www.nlm.nih.gov/medlineplus/ency/article/000538.htm" target="_blank" rel="noopener">hemophilia A</a>), which is caused by mutations in the gene that encodes another clotting protein, factor VIII.
<h2>Alexi&#8217;s DNA</h2>
As expected, when the researchers looked at Alexei&#8217;s DNA, they found that his X chromosome contained the factor IX mutation.   DNA from remains presumed to be from Grand Duchess Anastasia also showed evidence of this factor IX mutation, meaning that, like her mother, she was a carrier for hemophilia.   Had this young girl really escaped execution, as was <a href="https://blog.23andme.com/2009/02/24/historys-mysteries-finding-answers-in-our-dna/" target="_blank" rel="noopener">rumored for many years</a>, any sons she had would have each had a 50% chance of continuing on the tradition of the royal disease.
Image: Permission of the State Archives of the Russian Federation

Researchers Discover the True Identity of the “Royal Disease”

<img loading="lazy" decoding="async" class="alignright size-full wp-image-2057" title="DNA Strand" src="https://blog-api.23andme.com/wp-content/uploads/2008/11/istock_000000628100xsmall.jpg" alt="DNA Strand" width="334" height="250" srcset="https://blogcms.23andme.com/wp-content/uploads/2008/11/istock_000000628100xsmall.jpg 400w, https://blogcms.23andme.com/wp-content/uploads/2008/11/istock_000000628100xsmall-300x225.jpg 300w" sizes="auto, (max-width: 334px) 100vw, 334px" />
Dan Vorhaus at <a href="http://www.genomicslawreport.com/" target="_blank" rel="noopener">Genomics Law Report</a> has launched &#8220;What ELSI is new?&#8221;, a series of guest posts on the most pressing ethical, legal, and social issues (ELSI) relating to genomics.   (You gotta love the name.)   The contributor list is a who&#8217;s who of voices in the ELSI, policy, and blog worlds.   I&#8217;m honored to be representing 23andMe in the discussion; my own post will appear next Tuesday.
<a href="http://www.genomicslawreport.com/index.php/2009/10/05/how-will-we-handle-the-rapidly-approaching-flood-of-genomic-information-on-individual-patients-and-consumers/" target="_blank" rel="noopener">Today&#8217;s post</a> is by Prof. Hank Greely, with whom I had the pleasure of serving on a panel at the Stanford Genetics departmental retreat a few weeks ago.   He makes the important point that trained genetics professionals are too few and far between to expect consultations for every genomics consumer, especially when sequence information is getting cheaper and cheaper.   What&#8217;s the right response: to restrict access to genetic information because of the danger of misinterpretation, or to accept the risk but mitigate it as well as possible through education?

“What ELSI is new?” at Genomics Law Report

<img loading="lazy" decoding="async" class="alignright size-full wp-image-4950" title="iStock_000004898479XSmall" src="https://blog-api.23andme.com/wp-content/uploads/2009/10/iStock_000004898479XSmall.jpg" alt="iStock_000004898479XSmall" width="347" height="346" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/10/iStock_000004898479XSmall.jpg 347w, https://blogcms.23andme.com/wp-content/uploads/2009/10/iStock_000004898479XSmall-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2009/10/iStock_000004898479XSmall-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2009/10/iStock_000004898479XSmall-271x271.jpg 271w" sizes="auto, (max-width: 347px) 100vw, 347px" />
Our bones are amazing structures, capable of supporting tremendous force through complex motions. They do this day in and day out, year after year as we sit, stand, walk, run, lift, work, and play. But as the elderly among us know all too well, bones are not invincible and <a href="http://www.mayoclinic.com/health/osteoporosis/DS00128/DSECTION=causes">become more fragile as we age</a>. As the natural, continuous cycle of bone turnover slows down and becomes unbalanced, bone is broken down faster than it is replaced &#8212; and important bone-strengthening minerals like calcium are lost.
Low <a href="http://www.webmd.com/osteoporosis/bone-mineral-density">bone mineral density</a> (BMD) is one of the hallmarks of osteoporosis (literally &#8220;porous bones&#8221;), a disease that <a href="http://www.niams.nih.gov/Health_Info/Bone/Osteoporosis/default.asp">impacts</a> nearly 45 million people in US and is responsible for more than one million fractures each year. Women develop osteoporosis much more frequently than men, especially after menopause. The burden on the health care system is significant and is expected to double over the next 10-15 years as the population ages.
Although it is natural to lose bone mass as we get older, genetic factors are known to play a large role in determining bone mass and the rate at which bone mineral density decreases. The relationship between genetics and BMD is complex, and association studies have implicated many different genes that may play a role. New research published this week in <a href="https://dx.doi.org/10.1038/ng.446">Nature Genetics</a> continues the search for genetic factors and has identified more than a dozen SNPs associated with BMD in Europeans.
The team of researchers, led by Fernando Rivadeneira and Andre Uitterlinden of the Erasmus Medical Center in The Netherlands, used data from the Genetic Factors for Osteoporosis (<a href="http://www.gefos.org/">GEFOS</a>) Consortium containing lumbar spine BMD and femoral neck BMD measurements for almost 20,000 individuals. About half of the variants they identified replicated previously reported genetic associations with BMD, but the other half were new.
Some of the SNPs were associated with lower BMD while others were associated with higher BMD. For instance, individuals with one or more copies of the C allele at one of the SNPs tended to have lower lumbar spine BMD than those without, and individuals with one or more copies of the C allele at another SNP tended to have higher lumbar and femoral neck BMD.
The exact biological processes affected by these variants are still unclear, but increasing evidence points to several signaling pathways known to be important in bone biology.
One of these pathways is mediated by the &#8220;Wnt&#8221; family of proteins; <a href="http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&amp;pubmedid=18164181">Wnt signaling</a> is important both for proper differentiation of cells responsible for breaking down bone and for the development of cartilage, required for new bone formation. , for instance, is near the gene that encodes Î²-catenin, an important node through which Wnt proteins influence cellular processes such as gene expression (this SNP is not on 23andMe&#8217;s platform but correlates perfectly with one that is, ). Wnt proteins can also act through other channels potentially affected by additional SNPs identified by this study.
Another pathway implicated by the growing body of research is estrogen signaling. There is no doubt that the drop in estrogen following menopause in women leads to increased risk for osteoporosis, and hormone replacement therapy can have a protective effect. Not surprisingly, estrogen affects numerous biological processes &#8211; including bone maintenance &#8211; mainly through its role in gene expression. <a href="http://aje.oxfordjournals.org/cgi/content/full/161/4/307">Variants in ESR1</a>, the major estrogen receptor found in bone, have been associated with BMD and osteoporosis, though <a href="http://jmg.bmj.com/cgi/content/short/42/3/240">results are far from conclusive</a>. Rivadeneira and colleagues confirmed the association of a SNP in ESR1, , with lumbar spine BMD. Several other SNPs are also located in or near genes that may influence the regulation of bone development.
Osteoporosis is the most common bone disorder in developed countries. One in two women and one in four men over the age of 50 will experience a bone fracture due to the disease. Diets rich in calcium (especially before your mid-30s) and regular exercise can help combat bone loss. Meanwhile, the search carries on for clues that could lead to greater understanding of bone disease and potential avenues for treatment.

The Plot Thickens For Thinning Bones

<img loading="lazy" decoding="async" class="alignright size-full wp-image-4923" title="Water.vole.arp" src="https://blog-api.23andme.com/wp-content/uploads/2009/10/Water.vole.arp.jpg" alt="Water.vole.arp" width="300" height="335" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/10/Water.vole.arp.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2009/10/Water.vole.arp-269x300.jpg 269w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Through the millennia wave after wave of migrants &#8211; often in the form of invading armies — have descended upon the British Isles.
The first people to arrive after the Ice Age were hunter-gatherers who followed their prey north from southern Europe about 12,000 years ago. The Celts came from central Europe about 3,000 years ago. Then came the Romans, followed by the Anglo-Saxons, Vikings and finally the Normans in 1066 AD.
With each successive invasion, the previous people were either absorbed by the invaders, or retreated to the isolated corners of the Isles. Often called the &#8220;Celtic Fringe,&#8221; these regions have been studied as a window into the ancient history of the British Isles. Some scholars even propose that the present-day people of the fringe could be direct descendants of the earliest humans to arrive on the Isles after the Ice Age.
But despite exhaustive research into the history and genetics of the Celtic Fringe, its prehistory remains mysterious, forcing scientists to think outside the box. In the September 30 issue of the <a href="http://rspb.royalsocietypublishing.org/content/early/2009/09/25/rspb.2009.1422.abstract">Proceedings of the Royal Society B: Biological Sciences</a>, biologist Jeremy Searle and his research team did just that, devising an unconventional method to study the prehistoric peopling of the British Isles.
They could have examined the DNA of the Celts themselves. But that&#8217;s already been tried, so Searle and his colleagues turned their research underfoot.
Earlier analysis found similar genetic patterns in populations of both common shrews and humans inhabiting the Celtic Fringe. Using those results as a benchmark, Searle and his team expanded the genetic analysis to the pygmy shrew as well as two species of voles.
Searle reasoned that if these shrews and voles had similar immigration patterns to early humans, perhaps those patterns would show up in their DNA. Specifically, he believes that &#8220;this study can help us understand why humans in the British Isles form a Celtic Fringe.&#8221;
Interestingly, Searle and his colleagues&#8217; analysis revealed a division in DNA types for the shrews and voles similar to that separating the people of the Celtic Fringe and the rest of the British population. Further analysis revealed that the DNA types for the mammals living in the Celtic Fringe were quite old. So old, in fact, that Searle and his team propose that the arrival of these mammals traces all the way back to the post-Ice Age arrival of humans 12,000 years ago.
If the mammals living in the Celtic Fringe date back 12,000 years, the people living there could as well.
There is one problem with this hypothesis. The Celts themselves only arrived from mainland Europe 3,000 years ago, not 12,000 years ago. Conventional wisdom states that the Celtic Fringe only evolved after the Celts were pushed back following the invasion of the Romans and Anglo-Saxons.
How does Searle explain this discrepancy? He and his team argue that the Celtic Fringe is not actually Celtic in origin. Rather, its presence predates the arrival of the Celts and their arrival only &#8216;reinforced&#8217; a pre-existing division that was already there.
In that case, it would have been the Celts themselves whose arrival pushed earlier inhabitants to the isolated corners of the British Isles. Subsequent migrations would have pushed the Celts into these same corners, which is why the language and culture of these regions are inherently Celtic. And that would also explain why the languages, culture, and history of the pre-Celtic people of Britain have mostly been lost to time.

Shrews and Voles Reveal Clues to British Prehistory

<img loading="lazy" decoding="async" class="alignright size-full wp-image-1510" title="labmouse" src="https://blog-api.23andme.com/wp-content/uploads/2008/10/labmouse.jpg" alt="labmouse" width="300" height="199">
Inflammatory bowel disease (IBD), which can appear as either ulcerative colitis or Crohn&#8217;s disease, damages the lining of the digestive tract and leads to abdominal cramps, incomplete digestion and nutritional deficiencies.
Previous research on IBD gave researchers reason to suspect that the CD39 gene, which is involved with inflammatory responses and immunity, may play a role in IBD. Researchers at Harvard University, led by Simon Robson, found further evidence for this gene&#8217;s involvement when they removed it from a group of mice. Compared to normal animals, the genetically engineered mice were more susceptible to a drug that causes colitis symptoms similar to those experienced by humans. The results were published this week in the <a href="https://www.pnas.org/content/early/2009/09/28/0902869106.abstract?sid=2e91c093-2dd0-487b-908b-8f63dc01097c" target="_blank" rel="noopener">Proceedings of the National Academy of Sciences</a>.
With these animal model results in hand, the researchers turned their attention to humans. They searched a database of genetic information for DNA variants that are predicted to affect how much protein is made from the CD39 gene. One SNP in particular stood out. Not only did the A version of this SNP correlate with lower CD39 protein levels, but it was also associated with risk for Crohn&#8217;s disease. The researchers determined that one copy of the A version of this SNP increased the odds of Crohn&#8217;s disease by 1.14 times, while two copies increased the odds by 1.3 times.

Although the study focused only on Europeans, the authors believe their results will also be relevant to people of other ethnicities. The A version of that is associated with increased odds for Crohn&#8217;s disease in Europeans is also associated with lower levels of CD39 protein in people with African, Chinese and Japanese ancestry. The importance of this SNP may vary among ethnic groups, however, because the prevalence of the A version differs.
The researchers suggest that future studies will help define exactly how CD39 influences IBD and identify other SNPs that may influence risk for the disease.

Genetic Clues to Bowel Disease Found in Mice and Men

&nbsp;



In the United States, prostate cancer affects about one in every six men.   Genomewide association studies to find common genetic variants associated with this disease have been particularly successful. 



More than a dozen SNPs have been associated with prostate cancer, but researchers calculate that these variants represent only a tiny fraction of the genetic component of the disease.



<h2 class="wp-block-heading" id="h-filling-the-gap">Filling the Gap</h2>



To fill in the genetic gaps, researchers are turning to studies that include larger numbers of participants than ever before.   The hard work is paying off, as seen in four recent reports of Nature Genetics.   These analyses, based on the DNA of tens of thousands of men, have added at least 12 new variants to the roster of prostate cancer-associated SNPs.



One of the most striking features of these new studies is that they have identified two new SNPs on chromosome eight in a region known as 8q24.   Three other variants in this same region have already been linked to prostate cancer in both African American and European samples.   Other SNPs in the 8q24 region have been associated with breast, bladder, and colorectal cancer.<wp-block data-block="core/more"></wp-block>



The bounty of cancer-related SNPs in the 8q24 region is puzzling to scientists because there are no actual genes in this stretch of DNA.   The closest gene, MYC, is known to be involved in cancer, but so far, there is no evidence that the cancer-associated 8q24 SNPs are affecting MYC. Future research will hopefully identify what these SNPs are doing and how they affect cancer risk.



<h2 class="wp-block-heading" id="h-gwas-limitations">GWAS Limitations</h2>



Even though prostate cancer genome-wide association studies have been fruitful, critics such as John Witte of UCSF argue that the findings may not be clinically useful (read his February Nature Genetics review of prostate cancer genomics <a href="http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&amp;pubmedid=19104501" target="_blank" rel="noopener noreferrer">here</a>).



But that doesn&#8217;t mean that looking for variants associated with prostate cancer should be abandoned. &nbsp; Finding SNPs associated with the disease could lead scientists to new treatments.



There is also the possibility of finding variants that don&#8217;t just predict whether someone is at risk for prostate cancer but whether they are at risk for a particularly aggressive form of the disease. This could <a href="https://www.forbes.com/2009/08/31/prostate-cancer-screening-business-healthcare-prostate.html" target="_blank" rel="noopener noreferrer">help doctors discriminate</a> between those men whose cancers require immediate treatment and those who can avoid the side effects of surgery and radiation in favor of &#8220;watchful waiting.&#8221;



&#8220;There is clear clinical utility in identifying markers that can distinguish which prostate tumors will progress rapidly and be life-threatening versus those that are relatively latent and may not substantively impact a man&#8217;s health,&#8221; Witte writes.



<h2 class="wp-block-heading" id="h-more-data-needed">More Data Needed</h2>



As has been the case with most other studies looking for genetic variants associated with prostate cancer, none of the four new studies found an association between the identified SNPs and disease severity. Scientists have suggested that this indicates the studies are mainly finding variations associated with increased risk for cancer initiation. 



More large studies will be needed to find disease aggression-associated variants, and researchers will need to focus on SNPs correlated with disease recurrence following treatment and/or mortality instead of just the presence or absence of disease.

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