<img loading="lazy" decoding="async" class="alignright size-full wp-image-5968" title="inuk" src="https://blog-api.23andme.com/wp-content/uploads/2010/02/inuk.jpg" alt="" width="350" height="367" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/02/inuk.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2010/02/inuk-286x300.jpg 286w" sizes="auto, (max-width: 350px) 100vw, 350px" />Artist&#8217;s impression of Inuk based on genetic analysis 
Nuka Godfredsen/Nature
Editor&#8217;s note: This post has been edited from the original to reflect changes in 23andMe&#8217;s product.
Tufts of hair rescued from the permafrost in Greenland and then tucked away in a basement in Denmark for more than 20 years have given scientists their first glimpse into the genetics of an ancient human.
Eske Willerslev and Morten Rasmussen of the Centre for GeoGenetics at the Natural History Museum of Denmark and the University of Copenhagen, along with an international team of collaborators, have sequenced 80% of the genome of a man from the <a href="http://www.natmus.dk/sw18632.asp" target="_blank" rel="noopener">Saqqaq Culture</a> who walked the earth about 4,000 years ago.   By comparing this ancient DNA sequence to what is known about the genetics of modern humans, the researchers were able to piece together a picture of what the man they call Inuk (&#8220;human&#8221; or &#8220;man&#8221; in Greenlandic) likely looked like, where his people came from, and how he&#8217;s related to modern populations.   The results were published online today in the journal <a href="https://dx.doi.org/10.1038/nature08835" target="_blank" rel="noopener">Nature</a>.
Inuk&#8217;s DNA revealed that he had type A+ blood.   He likely had brown eyes and thick, dark hair.   His skin was probably not the light color found in modern day Europeans.   Inuk&#8217;s earwax was dry and he had shovel-graded front teeth, both characteristics common in Asian and Native American populations.   Several of the genetic variants he carried suggest that he had a metabolism and body mass well-suited to cold climates. The researchers even found that Inuk&#8217;s genetics are indicative of an increased risk of baldness.
&#8220;Because we found quite a lot of hair from this guy, we presume he died quite young,&#8221; Willerslev said in a press briefing.
(Although as Harvard professor and <a href="http://improbable.com/2009/01/12/lfhcfs-members-genome-sequenced/" target="_blank" rel="noopener">Luxuriant Flowing Hair Club for Scientists</a> member Steven Pinker found when analysis of his DNA also suggested a propensity for baldness, DNA is not always destiny.)
Analysis of Inuk&#8217;s <a href="https://www.23andme.com/gen101/graphics/ancestry/" target="_blank" rel="noopener">Y chromosome</a> revealed that his paternal haplogroup is Q1a, which is commonly found among Siberian and Native American populations. <a href="https://dx.doi.org/10.1126/science.1159750" target="_blank" rel="noopener">Previous analysis</a> by the same research group had revealed that Inuk&#8217;s maternal haplogroup, determined by his mitochondrial DNA, is D2a1.   This same lineage is commonly found in modern-day Aleuts of the Commander Islands in the Bering Sea and the Siberian Sireniki Yuits (Asian Eskimos).
Since discovery of the remains of the Saqqaq Culture in the 1950s, there has been disagreement over how these people were related to others that crossed the Bering Strait into the New World.   By analyzing Inuk&#8217;s DNA and comparing it to modern populations, the researchers determined that the Saqqaq are most closely related to the <a href="https://en.wikipedia.org/wiki/Nganasan_people" target="_blank" rel="noopener">Nganasans</a>, <a href="https://en.wikipedia.org/wiki/Koryaks" target="_blank" rel="noopener">Koryaks</a> and <a href="https://en.wikipedia.org/wiki/Chukchi_people" target="_blank" rel="noopener">Chukchis</a> of Siberia.   The long-gone Saqqaqs most likely left Siberia for the New World about 5,500 years ago, independently from the ancestors of present-day Native Americans and Inuit.
Now that his team has shown that full genome sequence analysis of ancient samples is feasible, Willerslev expects that there will be an explosion of work in the field.   He says that sequencing of DNA from South American mummies could help illuminate the population history and genetic diversity of Native Americans from before the arrival of Europeans.   Willerslev also suggests that sequencing ancient human DNA could reveal when certain genetic diseases become prevalent in different populations.

23andMe Blog

23andMe Blog Team

Researchers Use SNP Analysis to Paint Picture of an Ancient Human

Faces of America is a four-part series in which Harvard scholar Henry Louis Gates, Jr. uses genealogy and genetics to explore the family histories of 12 renowned Americans in an effort to understand what made the United States the place it is today.
The list of participants includes:
<ul>
<li>Elizabeth Alexander, professor and poet</li>
<li>Mario Batali, chef</li>
<li>Stephen Colbert, comedian</li>
<li>Louise Erdrich, novelist</li>
<li>Malcolm Gladwell, journalist</li>
<li>Eva Longoria, actress</li>
<li>Yo-Yo Ma, musician</li>
<li>Mike Nichols, director</li>
<li>Her Majesty Queen Noor</li>
<li>Dr. Mehmet Oz, television host/heart surgeon</li>
<li>Meryl Streep, actress</li>
<li>Kristi Yamaguchi, figure skater</li>
</ul>
Sneak peaks of each participant&#8217;s unique story are available on the <a href="https://www.pbs.org/wnet/facesofamerica/" target="_blank" rel="noopener">Faces of America</a> page at pbs.org.
All four episodes promise to be very interesting.   If you&#8217;re a fan of 23andMe, be sure to catch the episode featuring genetic ancestry analysis by our scientists on March 3.   Each participant was offered the same <a href="https://www.23andme.com/ancestry/lineage/" target="_blank" rel="noopener">maternal and paternal ancestry</a> and <a href="https://www.23andme.com/ancestry/origins/" target="_blank" rel="noopener">global origins</a> information we give every Complete and Ancestry Edition customer.   And now that <a href="https://www.23andme.com/ancestry/relfinder/" target="_blank" rel="noopener">Relative Finder</a> has had its official launch, these famous Americans can also use their DNA to connect with living cousins from all around the world.
Faces of America with Henry Louis Gates, Jr. premieres nationally Wednesdays, February 10 — March 3, 2010 from 8-9 p.m. ET on PBS.   Check your local listings <a href="https://www.pbs.org/wnet/facesofamerica/schedule/" target="_blank" rel="noopener">here</a>.   The first full-length episode will be available online on Thursday, February 11.

Faces of America on PBS

<img loading="lazy" decoding="async" class="alignright size-full wp-image-4225" title="istock_000008809355xsmall" src="https://blog-api.23andme.com/wp-content/uploads/2009/07/istock_000008809355xsmall.jpg" alt="" width="355" height="262" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/07/istock_000008809355xsmall.jpg 403w, https://blogcms.23andme.com/wp-content/uploads/2009/07/istock_000008809355xsmall-300x222.jpg 300w" sizes="auto, (max-width: 355px) 100vw, 355px" />
There&#8217;s no doubt that blood saves lives.   According to the Red Cross, in the United States alone about five million people need a total of 14 million pints of blood each year.   That&#8217;s <a href="http://www.redcrossblood.org/learn-about-blood/blood-facts-and-statistics" target="_blank" rel="noopener">38,000 pints every day</a>.
But transfusions are not without their dangers.   Among them is transfusion-related acute lung injury (<a href="http://www.nursingcenter.com/prodev/ce_article.asp?tid=771975" target="_blank" rel="noopener">TRALI</a>), a rare but potentially life-threatening condition that happens when there is a clash between donor and recipient blood.   TRALI is one of the major causes of transfusion-association deaths in the developed world.
New research, recently published in the journal <a href="https://dx.doi.org/10.1038/nm.2070" target="_blank" rel="noopener">Nature Medicine</a>, suggests that many cases of TRALI are due to a difference at just one genetic variation between donor and recipient.   This finding could someday enable screening before a transfusion is done, allowing doctors to reduce the risk of TRALI.
One reason TRALI happens is that a donor&#8217;s blood contains antibodies that recognize something in the recipient&#8217;s blood as an enemy.   These donor antibodies mount an attack that sets off a chain reaction of immune responses in the recipient&#8217;s body, leading to lung injury.   Several triggers for this type of TRALI have been identified.   One of these, the HNA-3 antigen, has repeatedly been associated with severe and fatal TRALI reactions.
HNA-3 comes in two versions: HNA-3a and HNA-3b.   A person whose body expresses only the HNA-3a version can make antibodies against the HNA-3b version if he or she is exposed to it somehow.   Likewise, a person whose body expresses only the HNA-3b version of the protein can end up with antibodies against the HNA-3a version. Someone who expresses both HNA-3a and HNA-3b, as a result of inheriting a different version from each parent, won&#8217;t make antibodies against either version.   For reasons that aren&#8217;t really understood, only antibodies against the HNA-3a version are relevant when it comes to TRALI.
The most common route of exposure to foreign versions of the HNA-3 antigen is childbirth.   A woman can be exposed to her child&#8217;s blood, and if it contains a different version of HNA-3 than her body is used to, she might produce antibodies.   The likelihood that a woman will have antibodies against HNA-3 increases with each birth.
The authors of the new study suggest that their new findings can be used to develop a large-scale screening program that could reduce the risk of TRALI.   Blood donors could be genetically screened to find those who are capable of producing antibodies against HNA-3a (i.e., they are AA at ).   Alternatively, the new genetic information could help scientists create artificial HNA-3a antigens that could be used in the lab to screen donated blood directly.

Genetic Variant Involved in Dangerous Blood Transfusion Reaction Identified

<img loading="lazy" decoding="async" class="alignright size-full wp-image-2857" title="bloodclot" src="https://blog-api.23andme.com/wp-content/uploads/2009/02/bloodclot.jpg" alt="" width="350" height="260">
Warfarin (Coumadin ®) is a blood thinner given to people at high risk for the formation of blood clots due to conditions such as deep vein thrombosis, heart valve disease or replacement, and irregular heart beat. The drug is also given to prevent recurrence of pulmonary embolism, heart attack and stroke.
If too little warfarin is prescribed, the threat of blood clots will remain. But if too much drug is given, uncontrolled bleeding can result. Add to this the fact that &#8220;too little&#8221; and &#8220;too much&#8221; can vary significantly between people, and it&#8217;s no wonder that complications from incorrect warfarin dosing are <a href="http://jama.ama-assn.org/cgi/content/full/296/15/1858" target="_blank" rel="noopener">one of the most common reasons for emergency room visits</a> due to adverse drug reactions.
In 2007, the FDA updated the labeling information for warfarin to include information about how variations in two genes, CYP2C9 and VKORC1, can impact a patient&#8217;s optimal dose of the drug. &nbsp; But the FDA did not make specific dosing recommendations at that time.
Now the FDA has <a href="http://www.accessdata.fda.gov/scripts/cder/drugsatfda/index.cfm?fuseaction=Search.Label_ApprovalHistory#apphist" target="_blank" rel="noopener">updated warfarin&#8217;s label </a>once again, this time specifically saying that a &#8220;patient&#8217;s CYP2C9 and VKORC1 genotype information, when available, can assist in selection of the starting dose.&#8221; &nbsp; The agency also provides initial dosage recommendations for patients with different variant combinations. &nbsp; The FDA does not, however, require that genetic testing be done before prescribing warfarin.
The warfarin label lists non-genetic factors that can impact warfarin dosing, including age, race, body weight, sex, other medications and other medical problems. &nbsp; These factors are accounted for in the dosing recommendations given in the label.
The Centers for Medicare and Medicaid Services, the federal agency that makes decisions about what Medicare, Medicaid and the Children&#8217;s Health Insurance Program will cover, <a href="http://www.cms.hhs.gov/mcd/viewdecisionmemo.asp?from2=viewdecisionmemo.asp&amp;id=224&amp;" target="_blank" rel="noopener">decided last year</a> that there was not sufficient evidence to justify covering genetic testing before warfarin administration for Medicare beneficiaries. &nbsp; They did say, however, that they would pay for testing in patients who are part of clinical studies aimed at gathering more data on how outcomes are influenced by the availability of genetic information.
Many physicians are still not comfortable incorporating genetics into their prescription decisions. &nbsp; The <a href="http://www.genomeweb.com/dxpgx/fda-updates-warfarin-labeling-pgx-guided-dosing-ranges?utm_source=feedburner&amp;utm_medium=feed&amp;utm_campaign=Feed%3A+genomeweb+%28GenomeWeb+%C3%9Cberfeed%29" target="_blank" rel="noopener">Pharmacogenomics Reporter </a>quoted Janet Woodcock, director of the FDA&#8217;s Center for Drug Evaluation and Research, as saying, &#8220;Doctors tell us all the time, don&#8217;t tell us about VKORC1, just tell us what the right dose is for patients,&#8221; at a recent conference.
The American Medical Association has produced a booklet to help doctors understand the science behind genetics and warfarin dosing.
23andMe Health Edition and Complete Edition customers can view their data for the genetic variations in CYP2C9 and VKORC1 considered in the FDA labeling update in the Warfarin (Coumadin ®) Sensitivity Drug Response Report.
A downloadable PDF version of the Warfarin Sensitivity report is available to help customers share their results with their doctors.
Only a physician can determine whether warfarin is the right medication for a particular patient and at what dosage it should be given. &nbsp; The information contained in 23andMe Drug Response reports should not be used to independently establish a drug regimen or abolish or adjust an existing course of treatment.
The Blog previously reported on <a href="https://blog.23andme.com/articles/new-study-shows-that-genetic-information-can-improve-administration-of-commonly-used-blood-thinner" target="_blank" rel="noopener">one of the studies</a> that contributed to the FDA&#8217;s new labeling decision.

FDA Updates Label for Commonly Used Blood Thinner to Include Dosing Recommendations Based on Genetics

<img loading="lazy" decoding="async" class="alignright size-full wp-image-5866" title="iStock_000007250710XSmall" src="https://blog-api.23andme.com/wp-content/uploads/2010/01/iStock_000007250710XSmall.jpg" alt="" width="347" height="346" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/01/iStock_000007250710XSmall.jpg 347w, https://blogcms.23andme.com/wp-content/uploads/2010/01/iStock_000007250710XSmall-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2010/01/iStock_000007250710XSmall-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2010/01/iStock_000007250710XSmall-271x271.jpg 271w" sizes="auto, (max-width: 347px) 100vw, 347px" />
Cancer of the pancreas, which strikes <a href="http://seer.cancer.gov/statfacts/html/pancreas.html" target="_blank" rel="noopener noreferrer">more than 40,000 men and women</a> in the United States each year, is an especially deadly malignancy.     There is no effective screening test for the disease and it is usually not detected until it has spread throughout the body.   The five-year survival rate is only about 5%.
Understanding more about the genetic factors that impact pancreatic cancer has the potential to improve prevention and early detection methods, and open new avenues for treatment.   In 2009 <a href="https://www.nature.com/ng/journal/v41/n9/abs/ng.429.html" target="_blank" rel="noopener noreferrer">one of the first genomewide association studies of pancreatic cancer</a> showed that a SNP on chromosome 9 was associated with risk of the disease.   This finding was not only one of the first strides into understanding the role of common variation in the disease, but it also added new evidence to the <a href="https://blog.23andme.com/articles/snpwatch-genomewide-study-supports-blood-type-as-a-risk-factor-for-pancreatic-cancer/" target="_blank" rel="noopener noreferrer">decades-long association between type O blood and lower risk for pancreatic cancer</a>.
Now researchers from the same group have found variations in three other regions of the genome that also affect pancreatic cancer risk.   The results, based on an analysis of 3,851 cases and 3,934 controls of mainly European ancestry, were published online this week in the journal <a href="https://dx.doi.org/10.1038/ng.522" target="_blank" rel="noopener noreferrer">Nature Genetics</a>.
The first of the newly identified genomic regions, located on chromosome 13, has been shown by other researchers to be frequently deleted in a variety of cancers, including pancreatic cancer.   There is also evidence that there might be a gene in this region that affects breast cancer susceptibility.
The second region the researchers linked to pancreatic cancer risk was on chromosome 1.   All of the chromosome 1 variants identified by the researchers are located in and around a gene called NR5A2, which appears to be critical for embryonic development and has links to cell growth and division.   All of these functions make it a strong candidate for a gene that is involved in cancer.
The final genomic region associated with pancreatic cancer in this new study is on chromosome 5.   One SNP showed a significant association with the disease.   It is near two genes, CLPTM1L and TERT, which have both been linked to cancer.   <a href="https://blog.23andme.com/articles/snpwatch-one-variation-many-cancers/" target="_blank" rel="noopener noreferrer">Previous research</a> has shown that the more common C version of this variant is associated with increased risk of basal cell carcinoma (a type of skin cancer), as well as lung, bladder, prostate and cervical cancer.   There is also suggestive evidence that the C version of is associated with increased risk of endometrial cancer.   On the other hand, the T version of that was shown to be associated with increased risk of pancreatic cancer in this study has also been found to be associated with increased odds of cutaneous melanoma (another type of skin cancer), and possibly colorectal cancer.
Another research finding of note is that a SNP very near to may be associated with the levels of DNA damage caused by smoking.   This is of particular interest because smoking is one of the major risk factors for pancreatic cancer.
The authors of the current study say that more research will be needed to assess how the newly identified genetic variants can be combined with known risk factors for pancreatic cancer–smoking, obesity, diabetes and family history–to identify people who are at high risk for the disease.   They also suggest that further research into the three genomic regions they identified will help guide studies investigating the biological mechanisms underpinning pancreatic cancer.
Pancreatic cancer has received increased media attention in the last year or so due to several high profile people being affected by the disease.   Actor Patrick Swayze died of pancreatic cancer in September 2009.   <a href="http://www.post-gazette.com/pg/08207/899511-100.stm" target="_blank" rel="noopener noreferrer">Randy Pausch</a>, Carnegie Mellon professor and author of &#8220;The Last Lecture,&#8221; lost his battle with the disease in 2008. Supreme Court justice <a href="https://abcnews.go.com/Health/CancerPreventionAndTreatment/story?id=6813420&amp;page=1" target="_blank" rel="noopener noreferrer">Ruth Bader Ginsberg</a> had an early stage pancreatic tumor removed in 2009.

More Common Genetic Variants Associated with Risk of Pancreatic Cancer

<img loading="lazy" decoding="async" class="alignright size-full wp-image-3091" title="pd" src="https://blog-api.23andme.com/wp-content/uploads/2009/03/pd.png" alt="" width="315" height="256" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/03/pd.png 315w, https://blogcms.23andme.com/wp-content/uploads/2009/03/pd-300x244.png 300w" sizes="auto, (max-width: 315px) 100vw, 315px" />
By Nick Eriksson, 23andMe Principal Scientist, and Lizzie Dorfman, Parkinson&#8217;s Research Project Manager
Less than a year ago we announced the <a href="https://www.23andme.com/about/press/20090312/" target="_blank" rel="noopener noreferrer">launch of the 23andMe Parkinson’s Research Initiative</a>. Since then, we have built one of the world&#8217;s most useful resources for studying the <a href="https://blog.23andme.com/2009/03/19/understanding-the-genetics-of-parkinsons-disease-a-work-in-progress/" target="_blank" rel="noopener noreferrer">genetics of Parkinson&#8217;s disease</a>.
This past December we had meetings with the <a href="http://www.nih.gov/" target="_blank" rel="noopener noreferrer">National Institutes of Health</a>, <a href="http://www.fastercures.org/" target="_blank" rel="noopener noreferrer">FasterCures</a>, pharmaceutical companies and several key Parkinson’s geneticists to discuss our research. The feedback was unequivocally positive. We are thrilled by the progress we’ve made and wanted to make sure to publicly share some of our most significant accomplishments to date, as well as a preview of what is to come.
<h6>Progress on Recruitment</h6>
So far, more than 3,500 people with Parkinson&#8217;s disease from 49 U.S. states and 17 countries have submitted saliva samples for genetic analysis and carefully answered more than 30,000 online surveys to help with our research. Our genetic database now includes many important subgroups of Parkinson&#8217;s patients, each presenting a tremendous opportunity for current and future research.
These include a large group of people with early-onset Parkinson’s (â‰¤50 years old at diagnosis), carriers of extremely rare mutations that are known to strongly predispose a person for the disease, and people with a family history of Parkinson&#8217;s with no known cause. We&#8217;ve also had an incredible response from our other communities: more than 8,000 people without Parkinson&#8217;s have taken our Parkinson’s surveys so that they can be included in our studies as crucial control subjects.
<h6>Unique Research Model</h6>
An important aspect of research at 23andMe, one that distinguishes us from many other research programs, is the way we collect information about the health, activities and environment of our participants.   Traditional methods of data collection &#8212; for example, using an existing medical record or a meeting between a researcher and each participant &#8212; can be costly, time-consuming and limit the number of people willing and able to participate.
In contrast, 23andMe utilizes simple online surveys that can be completed anywhere at anytime.   This allows people from all over the world to easily participate in our research on an on-going basis. Because this is a new way of collecting data, we&#8217;ve taken special care to make sure that the information we collect is accurate.   Careful analysis has indicated that the survey answers our participants have been providing are of very high quality.
<h6>How can we tell?</h6>
Well, one example is that we&#8217;ve independently identified many of the same genetic markers previously found by other Parkinson&#8217;s researchers.   Even the magnitude of the effects we&#8217;ve found are similar to what other research groups have seen.
For example, the <a href="https://blog.23andme.com/2009/11/17/snpwatch-common-genetic-variants-associated-with-risk-for-parkinsons-disease-identified-in-asian-and-european-populations/" target="_blank" rel="noopener noreferrer">published literature</a> has shown that each copy of a G at SNP rs393152 near the MAPT gene reduces the odds of Parkinson&#8217;s by 0.23 times. This is very similar to what we&#8217;ve seen in our data: we found that each G reduced the odds of Parkinson&#8217;s by 0.21 times. Each G at rs2736990 near the SNCA gene has been shown to increase the odds of Parkinson&#8217;s by 1.23 times. We found an increase of 1.28 times for each G .
In addition, we&#8217;ve also replicated the known associations between the LRRK2 and <a href="https://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Search&amp;db=pubmed&amp;term=19846850" target="_blank" rel="noopener noreferrer">GBA</a> genes and Parkinson&#8217;s. All of these results are important and exciting evidence that our revolutionary new way of conducting research is a viable alternative to traditional methods.
<h6>Verifying Other Findings</h6>
Thanks to the detailed information that has been contributed by everyone participating in the 23andMe Parkinson&#8217;s community, we&#8217;ve also been able to verify some things about Parkinson&#8217;s that aren&#8217;t genetic. For example, we see that <a href="https://www.23andme.com/health/Parkinsons-Disease/" target="_blank" rel="noopener noreferrer">LRRK2 G2019S</a> carriers who have Parkinson&#8217;s disease show fewer symptoms than other patients when adjusted for duration of the disease, age of onset, and sex.
This is similar to the result in a paper published by other researchers in the journal <a href="https://www.ncbi.nlm.nih.gov/pubmed/18539534" target="_blank" rel="noopener noreferrer">Lancet Neurology</a> in 2008. The survey answers we&#8217;ve collected are also able to divide our participants into the classically observed   tremor dominant and postural instability gait difficulty (PIGD) subtypes of Parkinson&#8217;s. These and other similar results provide further support for our web-based paradigm for conducting clinical research.
<h6>Collaborators</h6>
We are currently working with the <a href="http://www.thepi.org/" target="_blank" rel="noopener noreferrer">Parkinson&#8217;s Institute</a>, with funding from the <a href="http://www.michaeljfox.org/" target="_blank" rel="noopener noreferrer">Michael J. Fox Foundation</a>, on a <a href="https://www.23andme.com/about/press/20080514/" target="_blank" rel="noopener noreferrer">long term project</a> to formally show that Parkinson&#8217;s disease data collected online is as good as data collected in a clinical setting.
We&#8217;re very excited about the possibilities of the data we&#8217;ve collected from the Parkinson&#8217;s Disease Research Initiative. We&#8217;re in the process of writing up some of the results we&#8217;ve shared here, along with some others, and will soon submit papers on Parkinson&#8217;s Disease genetics to peer-reviewed scientific journals.
Also in store for the year ahead: continued recruitment, new research surveys, cutting-edge and exploratory data analysis techniques and new research collaborations. We&#8217;ll be sure to keep sharing our progress.
We would also like to express our thanks for the support and outreach efforts of several organizations. Since our launch we&#8217;ve been honored to work with the Michael J. Fox Foundation and The Parkinson&#8217;s Institute and Clinical Center. Over the last year we have been thrilled to add the support of <a href="http://www.parkinson.org" target="_blank" rel="noopener noreferrer">The National Parkinson Foundation</a>, <a href="http://www.patientslikeme.com/" target="_blank" rel="noopener noreferrer">PatientsLikeMe</a>, <a href="http://www.nwpf.org/" target="_blank" rel="noopener noreferrer">The Northwest Parkinson&#8217;s Foundation</a> and <a href="http://www.cureparkinsons.org.uk/" target="_blank" rel="noopener noreferrer">The Cure Parkinson&#8217;s Trust</a>, among others.
Speaking of outreach, it&#8217;s not too late to join in our efforts and help us make even more discoveries.   If you have been diagnosed with Parkinson&#8217;s disease, all it takes to join our research initiative is $25, a small saliva sample and the ability to answer online surveys. Learn more and request a discount code here: <a href="https://www.23andme.com/pd/" target="_blank" rel="noopener noreferrer">https://www.23andme.com/pd/</a>.

Nick Eriksson

23andMe Parkinson’s Research Initiative Progress Update

<img loading="lazy" decoding="async" class="alignright size-full wp-image-5814" title="iStock_000003241516XSmall" src="https://blog-api.23andme.com/wp-content/uploads/2010/01/iStock_000003241516XSmall.jpg" alt="" width="362" height="240" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/01/iStock_000003241516XSmall.jpg 425w, https://blogcms.23andme.com/wp-content/uploads/2010/01/iStock_000003241516XSmall-300x199.jpg 300w" sizes="auto, (max-width: 362px) 100vw, 362px" />
Researchers have identified another region of the genome associated with childhood asthma, a condition that affects more than <a href="http://www.lungusa.org/lung-disease/asthma/" target="_blank" rel="noopener noreferrer">seven million</a> American kids.
Analysis of DNA from about 1,700 children with asthma and 3,500 controls, all of European ancestry, identified several genetic variations on chromosome 1 associated with the risk of developing asthma.   Many of these same SNPs were then also found to be associated with risk for asthma in a sample of more than 1,600 African American children with asthma and 2,045 controls.   All of the newly identified SNPs are located near the gene that encodes DENND1B, a protein known to be involved in the body&#8217;s response to foreign particles.
&#8220;Many of these particles are well-known triggers of asthma.   In asthma, patients have an inappropriate immune response in which they develop airway inflammation and overreaction of the airway muscle cells,&#8221; explained Hakon Hakonarson, director of the Center for Applied Genomics at The Children&#8217;s Hospital of Philadelphia and the senior author of the study, in a <a href="http://stokes.chop.edu/publications/press/?ID=521" target="_blank" rel="noopener noreferrer">press release</a>.
The chromosome 1 variations identified by the researchers affected the odds of childhood asthma in different ways depending on ethnicity.   Versions of the SNPs associated with increased risk in African Americans were associated with decreased risk in the European sample.   This is not unusual in genetic studies, and often reflects differences in population history. The results were published recently in the <a href="https://dx.doi.org/10.1056/NEJMoa0901867" target="_blank" rel="noopener noreferrer">New England Journal of Medicine</a>.
Hakonarson suggests that his team&#8217;s finding that DENND1B has a genetic link to asthma could lead eventually to the development of new types of treatments.
&#8220;Other asthma-related genes remain to be discovered, but finding a way to target this common gene variant [found in the study] could benefit large numbers of children,&#8221; he said.
Previous research linked genetic variants on <a href="https://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Search&amp;db=pubmed&amp;term=17611496" target="_blank" rel="noopener noreferrer">chromosome 17</a> with the risk for childhood asthma in Europeans.   Some of these studies suggested that these variants have an effect only in <a href="https://blog.23andme.com/2008/10/15/genes-and-environment-work-together-to-increase-risk-of-childhood-asthma/" target="_blank" rel="noopener noreferrer">children who are exposed to tobacco smoke</a>.   More research will be needed to work out the details, but the importance of chromosome 17 in asthma was further supported by the current study, which replicated the previous findings in addition to identifying the new variants on chromosome 1.

More Progress in the Search for Genetic Variants Linked to Childhood Asthma

<img loading="lazy" decoding="async" class="alignright size-full wp-image-5791" title="aaman" src="https://blog-api.23andme.com/wp-content/uploads/2009/12/aaman.jpg" alt="" width="475" height="464" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/12/aaman.jpg 610w, https://blogcms.23andme.com/wp-content/uploads/2009/12/aaman-300x293.jpg 300w" sizes="auto, (max-width: 475px) 100vw, 475px" /><img loading="lazy" decoding="async" class="alignright size-full wp-image-5794" title="aawoman" src="https://blog-api.23andme.com/wp-content/uploads/2009/12/aawoman.jpg" alt="" width="475" height="459" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/12/aawoman.jpg 613w, https://blogcms.23andme.com/wp-content/uploads/2009/12/aawoman-300x290.jpg 300w" sizes="auto, (max-width: 475px) 100vw, 475px" />As shown in these <a href="https://www.23andme.com/ancestry/origins/" target="_blank" rel="noopener">ancestry paintings</a> from 23andMe, the proportion of African DNA can vary widely for African Americans.
A recent study led by Carlos Bustamante of Cornell and Sarah Tishkoff of the University of Pennsylvania has shown that genetically speaking, African American can mean a lot of different things.
<h6>Admixture</h6>
The researchers and their co-workers analyzed DNA data from 365 African Americans, 203 West Africans from 12 different countries, and 400 Europeans from 42 countries.   Their results, published in the <a href="https://www.pnas.org/cgi/doi/10.1073/pnas.0909559107" target="_blank" rel="noopener">Proceedings of the National Academy of Sciences</a>, show that the average amount of DNA in an African American&#8217;s genome that could be traced back to West Africa was about 77%, but ranged from as little as one percent to as much as 99%.
<h6>Implications for Health</h6>
These findings have important implications not only for understanding the ancestry of African Americans and the history of human migrations, but also for medical treatment.
&#8220;That some individuals who self-identify as African American show almost no West African ancestry and others show almost complete West African ancestry has implications for pharmacogenomics studies and assessment of disease risk… caution should be used in prescribing treatment based on differential guidelines for African Americans, &#8221; the authors write.
<h6>African American History</h6>
The researchers also undertook an analysis to determine if any particular stretches of DNA found in African Americans were more often descended from their West African ancestors.
The strongest finding was that there are elevated levels of African ancestry on the X chromosome, most likely reflecting a history in which interracial mating primarily happened between mothers with African ancestry and fathers with European ancestry.
The African groups studied by the research team represent just a few of the ten ethnicities mentioned most often in slave trade records. Future studies might examine other relevant populations from Sierra Leone, Senegal, Guinea Bissau, and Angola, providing further insights into the genetic ancestry of African Americans.

Large Study Reveals Details of African American Genetic Ancestry

<img loading="lazy" decoding="async" class="alignright size-full wp-image-4053" title="Biology experiment on well plate" src="https://blog-api.23andme.com/wp-content/uploads/2009/07/istock_000004124815xsmall.jpg" alt="" width="283" height="424" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/07/istock_000004124815xsmall.jpg 283w, https://blogcms.23andme.com/wp-content/uploads/2009/07/istock_000004124815xsmall-200x300.jpg 200w" sizes="auto, (max-width: 283px) 100vw, 283px" />
Using a research method very similar to the one used in 23andMe&#8217;s <a href="https://www.23andme.com/ancestry/origins/" target="_blank" rel="noopener noreferrer">Global Similarity</a> advanced view feature, researchers have discovered that most of the embryonic stem cell lines currently studied by researchers are derived from European and Middle Eastern populations.
Only two out of 47 were derived from egg and sperm coming from people with East Asian ancestry.   None of the embryos had genetic makeup indicative of recent African ancestry.
&#8220;Embryonic stem cell research has the potential to change the future of medicine,&#8221; said Sean Morrison, director of the University of Michigan Center for Stem Cell Biology and one of the study leaders in a press release.   &#8220;But there&#8217;s a lack of diversity among today&#8217;s most commonly used human embryonic stem cell lines, which highlights an important social justice issue.&#8221;
The researchers analyzed the stem cells using a SNP chip much like the one used by 23andMe for its Personal Genome Service.   The genetic data of each stem cell line was then compared to the DNA of a set of publicly available reference individuals from 63 populations around the world.
The analysis, published recently in the<a href="http://content.nejm.org/cgi/content/full/NEJMc0910371" target="_blank" rel="noopener noreferrer"> New England Journal of Medicine</a>, not only showed that there was a lack of ethnic diversity in the stem cell lines, but also revealed that at least five pairs of stem cell lines were likely derived from the same egg and sperm donors — genetically speaking, the equivalent of siblings.
&#8220;Efforts to derive and disseminate new stem cell lines should now emphasize underrepresented populations, to allow researchers to assess the extent to which ancestry of stem cell lines influences disease models, cellular therapies, and drug screening with the use of stem cells.
Availability of more diverse lines will reduce the risk that the potential benefits of stem cell research will be limited to patients with certain ancestries,&#8221; the authors write.
The use of embryonic stem cells in research is controversial.
In 2001, President Bush banned the use of federal funding for any embryonic stem cell research using cell lines other than the 21 that had been created prior to that date.
In March 2009, President Obama reversed this policy.   Derivation of new embryonic stem cell lines, however, is still not permitted using federal funds.
An alternative to destroying human embryos to create stem cells may lie in a new method in which adult cells are returned to a stem cell-like state through genetic manipulation.
These &#8220;induced pluripotent stem cells&#8221; avoid many of the ethical and moral issues surrounding embryonic stem cells, but it is not yet clear if they are suitable for all types of research.   Still, the University of Michigan based authors of the current study suggest that another way to increase diversity in the cell lines used for stem cell research is to create induced pluripotent stems cells from donors with diverse ethnic backgrounds.

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