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Despite years of effort and millions of dollars in research funding, only one gene, APOE, has been conclusively associated with Alzheimer&#8217;s disease risk so far.   But now the results of two of the largest Alzheimer&#8217;s studies ever provide convincing evidence that three more genes affect risk for the disease.
&#8220;These findings are a leap forward for dementia research.   At a time when we are yet to find ways of halting this devastating condition, this development is likely to spark off numerous new ideas, collaborations and more in the race for a cure,&#8221; said a statement from Rebecca Wood, Chief Executive of the Alzheimer&#8217;s Research Trust in the UK.
<a href="https://dx.doi.org/10.1038/ng.440" target="_blank" rel="noopener">A British team</a>, led by Julie Williams, found strong evidence that in the clusterin gene and in the PICALM gene are both associated with risk for Alzheimer&#8217;s. <a href="https://dx.doi.org/10.1038/ng.439" target="_blank" rel="noopener">A French team</a>, lead by Philippe Amouyel, also found strong evidence for an association between and Alzheimer&#8217;s risk, and suggestive evidence for an association with .
In addition, Amouyel&#8217;s research revealed that the A version of in the CR1 gene increases the odds of Alzheimer&#8217;s by 1.21 times. Suggestive evidence for this association was also seen in the work of Williams&#8217; group.
The results from both teams were published online this week in the journal Nature Genetics. 

Williams said in a statement that the number of people who fall victim to Alzheimer&#8217;s could be reduced by 20% if treatments addressing the effects of the three newly identified genes could be found.
The proteins made by the clusterin and CR1 genes are known to play a part in clearing out amyloid beta, the protein that forms plaques in the brains of people with Alzheimer&#8217;s.   PICALM encodes a protein important for proper communication between brain cells, a process that is known to be disturbed in Alzheimer&#8217;s patients.
In total, the DNA of more than 10,000 people with Alzheimer&#8217;s disease and more than 18,000 controls from ten countries was analyzed by the two teams of researchers.   But both groups agree that there is still much more to find.   Williams&#8217; team is already planning an even larger study involving 60,000 people that she believes can be completed within the next year.
&#8212;&#8212;&#8212;&#8211; 
<a href="http://www.alz.org/index.asp" target="_blank" rel="noopener">Alzheimer&#8217;s</a>, the most common cause of dementia in people 65 years and older, currently affects about five million people in the United States. As the population ages, many more people are expected to be afflicted; some estimate 14 million Americans will have Alzheimer&#8217;s by the year 2050.

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Largest Alzheimer’s Genetic Studies To Date Identify Three New Susceptibility Genes

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Scientists who are studying mice with a mutation that makes them resistant to obesity even in the face of a high-fat diet may have identified a new way to treat both obesity and diabetes.
Carrying extra weight is known to trigger a state of chronic, low-grade inflammation in the body, which can lead to insulin resistance and, in turn, diabetes.   When scientists at the University of Michigan discovered that an inflammatory protein called IKKÎµ seemed to be a key step in this pathway, they theorized that they could protect mice fed a high-fat diet from developing signs of diabetes by genetically engineering them to lack the protein.
Much to the researchers&#8217; surprise, IKKÎµ knockout mice were spared from not only from chronic inflammation and insulin resistanceâŽ¯they also stayed relatively slim even when fed a lard-like chow with 45% of its calories from fat. After three months on this diet, normal mice gained 20 grams, while the IKKÎµ-deficient mice gained only 12 grams.
&#8220;We&#8217;ve studied other genes associated with obesity … but this is the first one we&#8217;ve found that, when deleted, stops the animal from gaining weight.   The fact that you can disrupt all the effects of a high-fat diet by deleting this one gene in mice is pretty interesting and surprising,&#8221; said the study&#8217;s senior author, Alan Saltiel, in a statement.
The results were published this week in the journal <a href="https://dx.doi.org/10.1016/j.cell.2009.06.046" target="_blank" rel="noopener">Cell</a>.
Saltiel&#8217;s lab is already working to find drugs that inhibit IKKÎµ and could someday be used to prevent obesity and diabetes in humans.   He estimates that new treatments could be available in about a decade, once successful candidate compounds are identified.
But finding a compound that inhibits IKKÎµ isn&#8217;t the only obstacle on the road from the lab to the pharmacy.   Researchers will also need to confirm that IKKe works in humans the same way it does in mice.
Then there&#8217;s the issue of safety.   Mice lacking the IKKe gene were protected from obesity and related complications, but they were more susceptible to lethal viral infections than their normal littermatesâŽ¯a complication that would need to be carefully evaluated before any attempt to reduce IKKÎµ activity is undertaken in humans.
Image: <a href="https://en.wikipedia.org/wiki/File:%D0%9C%D1%8B%D1%88%D1%8C_2.jpg" target="_blank" rel="noopener">George Shuklin</a>

Surprisingly Skinny Mice Could Point the Way to Obesity and Diabetes Treatments

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We may be another step closer to discovering what makes us human.
A new study published online this week in <a href="https://genome.cshlp.org/content/early/2009/08/31/gr.095026.109.abstract" target="_blank" rel="noopener noreferrer">Genome Research</a> has pinpointed three genes in humans that may genetically differentiate us from chimps and other primates.
<h6>Shared DNA</h6>
Genetically we are very similar to chimps, so most of the differences researchers have observed to date regard physical appearance and <a href="http://www.archive.org/details/comparative_tests_on_human_chimp_infants" target="_blank" rel="noopener noreferrer">behaviors</a>.
The new study found several genes that were once silent and nonfunctional in our primate ancestors. They seem to have awakened around the time that humans formed a new evolutionary branch.
Researchers at the University of Dublin compared sections of the human genome with those of chimps and other primates. They found active genes that are absent from the chimp genome.
<h6>Human Genes</h6>
They found three human genes, CLLU1, C22orf45 and DNAHI0OS, that were present but inactive in non-human primates.

At the location of each of the three human genes, a disabling sequence of DNA was found in the genomes of the chimp, macaque, gorilla, gibbon and partially in the orangutan.
The study suggests that the awakened human genes shed their disabling components. But these awakened genes gained &#8220;enabling&#8221; sequences that helped them do the work of forming proteins in the body.
<h6>Awakened Genes</h6>
Previous research found that genes arising from inactive DNA were present in flies and yeast. The study suggests there may be a total of 18 awakened genes in humans. Yet researchers were limited to analyzing only a part of the 24,000-gene human genome.
The functions of these novel genes are not yet known. However, it is tempting to infer that these genes, specific to humans, are responsible for the attributes that differentiate us from other primates.

What Makes Us Human? Study Finds Hints By Comparing Chimp and Human DNA

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Editor&#8217;s note: This post has been edited slightly since publication.
Many examples worldwide of two distinct ethnic groups living side by side.
Sometimes, these groups co-exist peacefully. Other times, they do not.
Differences
Often, the differences between two groups &#8211; along with circumstantial factors &#8211; lead to tension between them and sometimes violence. The Hutus and Tutsis of Rwanda, the Sunnis and Shiites of Iraq, and the Croats and Serbs of former Yugoslavia all illustrate how cultural distinctions &#8211; like language and religion &#8211; can contribute to tensions and conflict around the globe.
But do these cultural and ethnic distinctions translate to biological distinctions as well?
<h6>A Study of Differences and Similarities</h6>
Exactly how biologically distinct are two ethnic groups living side by side? Anthropologist Evelyn Heyer and an international team of researchers set out to answer these and many other questions by studying the adjacent &#8211; and culturally very different &#8211; Tajik and Turkic speakers along the Silk Road of Central Asia. Their results are published in this week&#8217;s <a href="http://www.biomedcentral.com/1471-2156/10/49/abstract" target="_blank" rel="noopener">BMC Genetics</a>.

The authors focused on the Tajik and Turkic speakers because those groups offered a unique perspective on how two groups living in such close proximity can be so different from each other.
<h6>Language and Cultural Differences</h6>
The Turks are largely nomadic herders. They speak Indo-Iranian languages like Azerbaijani, Turkish, and Altay. Their society is organized into clans, or &#8220;descent groups,&#8221; whose membership is passed down from father to children.
The Tajiks are, conversely, agriculturalists. They speak various dialects of the the Tajik, or Tajik Persian, language that may have arrived with Muslim invaders 1,000 years ago. Their society is largely patrilocal &#8211; meaning that when couples marry they put up residence near the husband&#8217;s family; and first cousin marriages are encouraged.
The two societies are supposedly closed, and members of both groups are said to rarely leave their clan or village. This cultural isolation made them perfect candidates for Heyer and her team to study.
The researchers collected maternally inherited mitochondrial DNA and paternally inherited Y chromosome DNA from more than 1,000 individuals spanning 24 Turkic and Tajik populations.
<h6>Shared Genetics</h6>
They found that, genetically, the Tajiks and the Turks were virtually indistinguishable.
Genetically, the Tajiks and the Turks were virtually indistinguishable. The authors found the overall level of genetic diversity between the two groups to be less than 1 percent—so small that there was greater diversity within each group than between the two.
Their analysis also sheds some light on the origins of these two ethnic groups. The modern-day people of Central Asia maintain their own origin stories unique to their particular group. These unique origin stories, in part, distinguish them from one another.
But Heyer&#8217;s analysis proves that these groups share the same roots; they are simply a hodgepodge of the clans, tribes, and villages that have called Central Asia their home for thousands of years. Over many generations, they banded together to form larger groups until they consolidated into just two major divisions: the Tajiks and the Turks.

A photo of people on the street in New York

New Study on Genetics of Ethnic Groups Reveals We May Not Be So Different After All

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Although environment plays a major part in addiction – you can&#8217;t get hooked on something you&#8217;ve never tried – genetics plays a substantial role in determining whether a person who does use a drug will become addicted to it.
A few DNA variations have been identified that seem to increase the odds a person will become addicted to a specific drug. But <a href="https://www.ncbi.nlm.nih.gov/pubmed/10401514" target="_blank" rel="noopener noreferrer">twin studies suggest</a> that there might be genes influencing addiction in general.
Xiang Chen and colleagues at Yale and Princeton set out to find some of these genes by analyzing the genetic data from several cohorts of people previously studied for addictions. &nbsp; The researchers&#8217; approach was to look for variations found more frequently in people addicted to at least two out of six categories of substances: nicotine, alcohol, marijuana, cocaine, opiates and other drugs. &nbsp; Their results, published online this week in the Proceedings of the National Academy of Sciences, reveal a significant association between addiction and variations in a gene, PKNOX2, previously associated with alcohol dependence in mice.
The strongest signal was seen with in white women was found at a SNP inthe PKNOX2 gene and was associated with a higher risk for addition. The association of with addiction did not hold when the researchers looked at individual substances separately.
&#8220;This suggests that substance dependence or addiction as a whole has different risk genes compared to any single addiction outcome,&#8221; the authors write.
The authors admit that there are weaknesses in their study. &nbsp; For example, people addicted to two or more substances might just have more access to drugs – not a biological predisposition to addiction. &nbsp; Moe research in this area will definitely be needed.
SNPwatch gives you the latest news about research linking various traits and conditions to individual genetic variations. These studies are exciting because they offer a glimpse into how genetics may affect our bodies and health; but in most cases, more work is needed before this research can provide information of value to individuals. For that reason it is important to remember that like all information we provide, the studies we describe in SNPwatch are for research and educational purposes only. SNPwatch is not intended to be a substitute for professional medical advice; you should always seek the advice of your physician or other appropriate healthcare professional with any questions you may have regarding diagnosis, cure, treatment or prevention of any disease or other medical condition.
&nbsp;

Genetic Variation Associated With Addiction In Caucasian Women

New genetic research may explain why Fluffy is so fluffy.
A study led by researchers at the National Human Genome Research Institute scanned 1,000 dogs from 80 breeds, looking for genes associated with different hair types: curly, wavy, straight, wiry, long, and any combination of these. Their results, published online last week in <a href="http://www.sciencemag.org/cgi/content/abstract/1177808" target="_blank" rel="noopener noreferrer">Science</a>, show that variations in just three genes account for nearly all types of coats worn by man’s best friend.
<h2>Dog Hair</h2>
The study found that purebred dogs with similar hair types were found to have similar variations in three particular genes, RSPO2, FGF5, and KRT71.
A particular variation in the RSPO2 gene was linked to wiry hair in a pattern that gives dogs a mustache and eyebrows, such as in a schnauzer.

A variation in the FGF5 gene was associated with long hair, whether silky or fluffy, like that in a Pomeranian. Variations in the KRT71 gene seem to affect the extent of hair curl in dogs like Irish water spaniels.
Previous studies have shown that the FGF5 and KRT71 genes also affect hair type in cats and mice, suggesting that their effects may be relevant to all mammals, including humans.
<h2>Short Hair, Long Hair, and In Between</h2>
Some dogs have all three variations identified by the researchers, including Portuguese water dogs, a breed you may have seen taking walks on the White House lawn.
Short-haired dogs like beagles, who don’t exhibit any different types of hair studied by the researchers, all seem to have the ancestral versions of the FGF5, RSPO2, and KRT71 genes. The study also found that wolves carry the non-mutated forms of these genes, suggesting that the different hair types evolved after the evolutionary split between the two canine subspecies.
Despite what we know about the genetics of hair type in dogs, little is known about what makes <a href="https://blog.23andme.com/articles/snpwatch-researchers-find-link-between-red-hair-and-avoiding-the-dentist/" target="_blank" rel="noopener noreferrer">human hair</a> straight, wavy, curly, frizzy, kinky, woolly, or helical. While hair type in dogs is easily classified, studying human hair is not as simple. Some scientists have suggested characterizing hair by curl ratios and other measurements, but our diverse biological background poses a challenge in classifying human hair types for research.
This study could help researchers better understand the genetics of hair type in humans. It has also unleashed new possibilities for human disease research because these three genes that affect dogs&#8217; coats also regulate many other processes in living organisms, allowing researchers to study how powerful genes interact.

Study Sniffs Out Genes Behind Dog Hair

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A new report in the <a href="http://jama.ama-assn.org/cgi/content/full/302/8/849?home" target="_blank" rel="noopener noreferrer">Journal of the American Medical Association</a> adds to the mounting evidence that genetic variations impact the efficacy of clopidogrel (Plavix ®), a drug used to prevent blood clots in people who have had a heart attack or stroke and also those with peripheral artery disease and unstable angina.
<h6>Drug Response</h6>
Previous research has shown that certain variations in the CYP2C19 gene prevent the body from converting clopidogrel into its active form. That reduces the amount of anti-clotting effect people get from the medication, increasing their risk for heart attacks, strokes and death from cardiovascular causes.
(23ndMe customers can learn how their data fits in with this research in a previous <a href="https://blog.23andme.com/2008/12/23/snpwatch-genetic-variants-may-reduce-ability-of-anti-clotting-drug-clopidogrel-to-prevent-a-second-heart-attack/" target="_blank" rel="noopener noreferrer">Blog</a> post or in the Clopidogrel Efficacy Drug Response Report.)
The researchers, led by Alan Shuldiner of the University of Maryland School of Medicine, determined that BMI, lipid levels and age account for about 10% of the variation in clopidogrel&#8217;s ability to prevent blood clotting. Variation in the CYP2C19 gene accounted for another 12%, meaning that other factors, probably both genetic and non-genetic, are also at work.
<h6>CYP2C19</h6>
For patients whose genetics may reduce the benefits of clopidogrel treatment, there are other options. Prasugrel (Effient ®) was recently approved by the FDA and appears not to be affected by the same variations that impact clopidogrel efficacy, although there are some concerns about bleeding caused by this drug.   Several other drugs (ticagrelor, cangrelor, elinogrel) that could be used for clotting reduction in place of clopidogrel are currently in clinical trials.
Clinical trials have not yet been conducted to show if identifying people with variants of the CYP2C19 before prescribing clopidogrel actually improves health outcomes.   If such studies do show a benefit and this type of testing becomes routine, people with these variants might be steered away from clopidogrel by their doctors, which would seem to be a boon for the makers of newer medications.
<h6>Genetic and Non-Genetic Factors</h6>
But in an editorial accompanying the study in JAMA, <a href="http://jama.ama-assn.org/cgi/content/extract/302/8/896" target="_blank" rel="noopener noreferrer">Deepak Bhatt</a> suggests that testing for these variations would also allow physicians to know for whom clopidogrel will work (probably). This would be an important piece of information considering that the patent on clopidogrel is set to expire in <a href="https://www.reuters.com/article/rbssHealthcareNews/idUSN1843632020090818" target="_blank" rel="noopener noreferrer">2011</a>, so cheaper generic forms of the drug will be available then.
&#8220;Although such testing currently is expensive, the cost will decrease and hopefully will coincide with supportive data.   Furthermore, if such testing allowed use of a less expensive generic anitplatelet drug,&#8221; he writes. &#8220;The test might essentially pay for itself.&#8221;

More Evidence that Genetics Can Reduce the Efficacy of Anti-Clotting Medication Clopidogrel

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A new genetic screening process has helped researchers understand the genetic causes of cancer, such as how mutations accumulated in a person&#8217;s life can cause leukemia.
The study compared a person&#8217;s own DNA to that of their cancerous cells. Using this technique researchers found DNA mutations that may have led to abnormal cell growth, or cancer.
Researchers at Washington University School of Medicine in St. Louis sequenced a single leukemia patient&#8217;s healthy and cancerous DNA. They were able to pinpoint several mutations out of hundreds that appeared likely to have contributed to his cancer&#8217;s development. He is the second patient with acute myeloid leukemia (AML) to have his entire genome and that of his cancerous tissue fully sequenced. Typically only the portions of the genome that are known to be prone to cancer-causing mutations are sequenced.

“If we only look at genes with known or suspected links to cancer, we’ll miss many mutations that are potentially relevant,” co-author Richard Wilson said in statement.
The study by Mardis et al., published in The New England Journal of Medicine,  identified a total of 750 mutations in the patient’s AML genome. Most of them proved irrelevant. However, 64 were likely to be cancer-related. Two previously known mutations were newly linked to leukemia.
<h6>Personalized Sequencing</h6>
Timothy Lay, the senior author of the study, explained that most patients with this type of leukemia are treated similarly, at least in the beginning. This study&#8217;s patient, for example, received various chemotherapy drugs. Defining cancer mutations could help determine which patients need aggressive treatment. So, for example, a stem cell transplant, which could be effectively treated with less intense therapies.
Personalized sequencing of entire cancer genomes is possible now because the accuracy and cost of genome sequencing technology has dramatically improved. This study took only a few months at one-third the cost of the first AML patient, who was sequenced only one year ago.
To date 350 cancer mutations are known, but thousands of cancer genomes will need to be screened to truly explain the genetic basis for cancer. This information could be used not just to guide physicians to the most effective treatment, but also to inform patients about their prognosis.
<h6>Living in the Know</h6>
But do patients even want to know?
A recent study published in the  Journal of Genetic Counseling suggests they do. Researchers found that 98 of 99 patients with ocular melanoma, a rare, untreatable eye cancer, wanted to know. Even if their cancer had a genetic marker that gave them a 50 percent chance of dying within five years. Patients were relieved when the risk was low. However, even when the risk was high they were enabled to plan financially and make the most of their time alive.
This very personalized medicine will continue to be driven by improved diagnostic testing, according to James Downing in a recent editorial in The New England Journal of Medicine. This will identify more predictive disease markers, and lead to new therapies directed at cancer-specific mutations. He believes this technology will likely be used clinically long before we have a complete knowledge of cancer genes.

Revelations from Sequencing of Second Cancer Patient

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Nearly a year ago today, the Blog <a title="Blog post of 28 Aug 2008" href="https://blog.23andme.com/2008/08/28/faces-in-a-crowd-new-dna-technique-can-pick-one-persons-dna-signature-out-of-hundreds/">reported</a> that researchers had figured out how to pick a known person&#8217;s DNA out of a database containing genetic information for up to 200 unidentified individuals.
The feat made it possible to determine, for example, if a particular suspect&#8217;s DNA was present in a mix of several peoples&#8217; collected at a crime scene. It also raised the possibility, at least theoretically, that somebody could figure out if a particular person&#8217;s DNA was part of a research database or some other pool of anonymous data.
Now another team of researchers has calculated the limits of this needle-in-a-haystack technique. It turns out that if the number of data points revealed is small enough, an individual&#8217;s DNA can remain undetectable.

Before UCLA geneticist Stan Nelson and his colleagues published their paper last year, it had been a common practice to publish summary data from research DNA collections so members of the genetics community could build on each others&#8217; research. (Note: 23andMe does not share individual-level data without explicit consent, and is working on ways of distributing summary data without compromising privacy.) It was assumed that aggregation would make it impossible to tell whether a particular individual had contributed to that collection. But in the wake of the announcement of the new detection method, major genome centers swiftly <a title="Blog post of 29 Aug 2008" href="https://blog.23andme.com/2008/08/29/labs-remove-genetic-data-from-public-databases-after-forensic-breakthrough/">removed</a> summary data from public view to avoid the possibility of compromising the identity of any research participants.
In a paper published today in <a href="https://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.436.html" target="_blank" rel="noopener">Nature Genetics</a>, researchers from UC Berkeley take the first step towards a less extreme route to protecting individuals&#8217; identities than simply withholding all information. The researchers developed methods to calculate precisely how much genetic information from a research DNA collection may be revealed without risk of exposing the identities of the study participants.
At the heart of the <a href="http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1000167" target="_blank" rel="noopener">PLoS Genetics</a> paper that started the hubbub was a statistical test that the authors used to show that they could reliably tell whether someone was present in a DNA mixture. The new study not only provides an improved version of this test, but proves that the new approach is the best of all possible detection methods. Since no better test could be devised, if theirs is unable to detect whether an individual was part of a mixture of DNA, they can be confident that no test would be able to do it.
Armed with this certainty, the authors explore just how much information from a research DNA collection may be reported without risk of divulging who was in the study. It turns out that for a collection of 1,000 individuals, up to 10,000 individual data points can be revealed with little risk of exposing anyone to identification.
This makes it somewhat easier for geneticists to share their data. But these days an individual&#8217;s genetic data typically consists of a genome-wide panel of 500,000 to a million single-letter DNA variations known as SNPs – so the problem still isn&#8217;t solved completely.

Latest Posts — Page 185