<img loading="lazy" decoding="async" class="alignnone size-medium wp-image-14534" alt="" src="https://blog-api.23andme.com/wp-content/uploads/2012/07/photo-214x300.jpg" width="214" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/07/photo-214x300.jpg 214w, https://blogcms.23andme.com/wp-content/uploads/2012/07/photo-768x1075.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/07/photo-629x880.jpg 629w, https://blogcms.23andme.com/wp-content/uploads/2012/07/photo-731x1024.jpg 731w, https://blogcms.23andme.com/wp-content/uploads/2012/07/photo-843x1180.jpg 843w, https://blogcms.23andme.com/wp-content/uploads/2012/07/photo-scaled.jpg 1828w" sizes="auto, (max-width: 214px) 100vw, 214px" />
Editors note June 2013: Suzan &#8220;Suzie&#8221; Mickey lost her battle with cancer earlier this month. An advocate for better treatments for women with metastatic breast cancer, Suzie inspired many with her attitude. Our condolences go out to her family.
Positive, helpful, and upbeat. These aren’t words you would expect to describe someone about to start another round of chemo treatment. However, in the case of Suzan Mickey, they are very apt. Mickey is a participant in the 23andMe and Genentech <a href="https://www.23andme.com/invite-study/">InVite</a> study on bevacizumab (also known as Avastin ®) and metastatic breast cancer. &nbsp;(Avastin ® is not approved by the FDA for treatment of breast cancer.) &nbsp;
A forty-five-year-old wife and mother of two pre-teen kids, Mickey has many interests, including an unusual predilection for antiques. Finding beauty in a broken and neglected piece of furniture, she says, is a metaphor for finding hope within a devastating diagnosis. &nbsp;Where many people would just see the peeling paint on an old cupboard, Mickey sees opportunity; where many people would see only the bleakness of cancer, Mickey sees blessings.
“I have to live my remaining days with cancer, and I am choosing to see the blessings that come with it as opposed to being focused on the challenges,” she said. “Although my diagnosis is not something I would wish for anyone, it has brought with it many incredible gifts. The love and support I have received from family and friends is humbling. I now focus my time engaged with those that I love, and I never hesitate to experience something new. &nbsp;The little things really do not matter&#8230;spending time with those that you love absolutely does.”
<div style="border: 1px solid #000; padding: 5px; font-style: italic; margin-bottom: 15px; width: 300px; float: right; margin-left: 15px; margin-top: 5px;">
<img loading="lazy" decoding="async" class="alignleft size-full wp-image-12163" style="float: left; margin-right: 15px;" alt="" src="https://blog-api.23andme.com/wp-content/uploads/2012/04/JRBgdIBXKIeVIdETJrxYIw_ttam_logo.jpg" width="24" height="40"> If you have taken bevacizumab as a breast cancer treatment in the past, you may be eligible to participate in the <a href="https://www.23andme.com/invite-study/" target="_blank" rel="noopener noreferrer">InVite Study</a>.
<img loading="lazy" decoding="async" class="aligncenter size-medium wp-image-12590" alt="" src="https://blog-api.23andme.com/wp-content/uploads/2012/03/InVite-Logo-300x108.png" width="300" height="108" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/03/InVite-Logo-300x108.png 300w, https://blogcms.23andme.com/wp-content/uploads/2012/03/InVite-Logo-768x277.png 768w, https://blogcms.23andme.com/wp-content/uploads/2012/03/InVite-Logo.png 826w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Furthermore, all 23andMe customers can participate in other scientific research through 23andMe&#8217;s research <a href="https://www.23andme.com/you/23andwe/surveys/" target="_blank" rel="noopener noreferrer">surveys</a>. Not yet a customer? Visit our <a href="https://www.23andme.com/store/cart/" target="_blank" rel="noopener noreferrer">store</a> or <a href="https://www.23andme.com/" target="_blank" rel="noopener noreferrer">learn more</a>.
</div>
Given Mickey’s ability to see opportunity in even the hardest situations, it isn’t surprising that she is helping cancer research. Despite having stage 4 breast cancer, Mickey is cheerful and wants to help other women fighting breast cancer. Mickey joined the <a href="https://www.23andme.com/invite-study/">InVite study</a> &nbsp;because she was interested in helping researchers learn more about &nbsp; bevacizumab and if genetics played a role in how &nbsp; patients responded to treatment.
Although genetics may be one contributing factor to treatment response, Mickey and her doctors believe that the healthy diet she adopted may have also played an important role in her response. After researching the impact of nutrition on chemo treatment response, she switched to a diet with no animal proteins, no dairy, no gluten, and no refined sugar, and instead ate lots of whole grains, legumes, fruits and veggies that are high in fiber. Mickey even studied at the <a href="http://www.integrativenutrition.com/">Institute</a><a href="http://www.integrativenutrition.com/"> of </a><a href="http://www.integrativenutrition.com/">Integrative </a><a href="http://www.integrativenutrition.com/">Nutrition</a> in order to become a holistic health coach, hoping to share this important nutrition information with other women facing chemo. Being diagnosed with cancer, she said, feels like the world is spinning out of control. Mickey believes that the foods she ate allowed her to stay strong and produce less estrogen, creating an optimal environment within her body which she feels gave the medicines their best chance at success. Thus, regardless of one’s genetic makeup, she sees a healthy diet as one positive way to take control.
In addition to encouraging good nutrition, Mickey says that she encourages other women diagnosed with breast cancer not to fear. &nbsp;And certainly, with her cheerfulness, enthusiasm, and concern for others, Suzan Mickey is living proof that a life with breast cancer can instead be a life of strength and hope.

23andMe Blog

23andMe Blog Team

An Active Participant in Breast Cancer Research and in Life

<img loading="lazy" decoding="async" class="alignright size-medium wp-image-11763" title="InVite Study Page" src="https://blog-api.23andme.com/wp-content/uploads/2012/03/InVite-Study-Page-300x117.jpg" alt="" width="300" height="117" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/03/InVite-Study-Page-300x117.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/03/InVite-Study-Page-768x300.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/03/InVite-Study-Page-1024x400.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2012/03/InVite-Study-Page-880x344.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2012/03/InVite-Study-Page.jpg 1128w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Earlier this year 23andMe and Genentech launched <a href="https://www.23andme.com/invite-study/">an online study of metastatic breast cancer</a> to learn more about how genes might play a role in how a person responds to bevacizumab, also known as Avastin ®. (Avastin ® is not approved by the FDA for treatment of metastatic breast cancer.)
Since women began to sign up to participate in the study, we’ve expanded eligibility to offer more women the opportunity to participate.
We’ll be posting a few stories from patients and advocates about the study in the coming days.
We’re hoping to recruit 1,000 women living in the United States who’ve been diagnosed with metastatic breast cancer and who started treatment with bevacizumab before Jan. 1, 2012.
<img loading="lazy" decoding="async" class="alignright size-medium wp-image-14706" title="InVite-ad1" src="https://blog-api.23andme.com/wp-content/uploads/2012/07/InVite-ad1-300x158.png" alt="" width="300" height="158" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/07/InVite-ad1-300x158.png 300w, https://blogcms.23andme.com/wp-content/uploads/2012/07/InVite-ad1-768x405.png 768w, https://blogcms.23andme.com/wp-content/uploads/2012/07/InVite-ad1-880x464.png 880w, https://blogcms.23andme.com/wp-content/uploads/2012/07/InVite-ad1.png 1025w" sizes="auto, (max-width: 300px) 100vw, 300px" />
This study does face some challenges, but we’re being helped by our partners that include the Avon Foundation for Women, <a href="http://www.breastcancer.org/">BreastCancer.Org</a>, <a href="http://www.lbbc.org/">Living Beyond Breast Cancer</a>, the <a href="http://mbcn.org/">Metastatic Breast Cancer Network</a>, the <a href="http://www.tnbcfoundation.org/">Triple Negative Breast Cancer Foundation</a>, the <a href="http://www.cancersupportcommunity.org/">Cancer Support Community</a> and <a href="http://www.facingourrisk.org/">Facing Our Risk for Cancer Empowered</a> (FORCE). Together we believe we can recruit women interested in joining this study.
If you have metastatic breast cancer, please consider joining this innovative study. If you know someone with metastatic breast cancer, refer her to the <a href="https://www.23andme.com/invite-study/" target="_blank" rel="noopener noreferrer">link so she can find out more</a>.
23andMe’s research model holds promise because we can recruit people to participate in a study much faster than traditional methods. Our model can also eliminate some of the traditional obstacles that block people from participating in clinical trials. By combining participants&#8217; genetic data with survey responses, we hope to discover new genetic markers for diseases, and understand why some people respond to treatment more readily than others. This information also helps our researchers explore how a person’s health is influenced by the interactions between genetics and the environment. (While this study may generate important scientific findings, participants should not expect to personally benefit from it, as the findings will not change how they are or have been treated for their disease.)
23andMe has already <a href="https://www.23andme.com/about/press/sgk1/">seen encouraging results</a> in other ongoing research projects. We’re hopeful that this opportunity to work with Genentech in this first-of-its-kind clinical trial will yield promising results.
For more information about the InVite study email invite-study@23andme.com.

Participating in Metastatic Breast Cancer Research

<img loading="lazy" decoding="async" class="aligncenter wp-image-14184 size-full" title="three-bras" src="http://35.88.189.111/wp-content/uploads/2012/07/three-bras.jpg" alt="" width="416" height="288" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/07/three-bras.jpg 416w, https://blogcms.23andme.com/wp-content/uploads/2012/07/three-bras-300x208.jpg 300w" sizes="auto, (max-width: 416px) 100vw, 416px" />
Social norms and preferences aside, it turns out that breast size matters &#8212; but not quite in the way you think.
<a href="http://www.biomedcentral.com/1471-2350/13/53/abstract">23andMe’s latest research paper</a>, published in the journal BMC Medical Genetics, shows that genetic factors influence whether women have double As or double Ds. This might sound a bit frivolous at first but our research uncovered surprising connections between the genetics of breast size and the genetics of breast cancer. 

Analyzing data from more than 16,000 women of European ancestry, we compared their answers to survey questions with their genetic data at millions of SNPs. We found a total of seven genetic factors significantly associated with breast size, three of which are strongly correlated with SNPs already linked to breast cancer.
How do you study breast size anyway? 
In our case, no one’s personal space was violated &#8212; all of our data was self-reported by female 23andMe customers of European descent who have opted into research and filled out an online survey. We specifically asked about bra cup size as an approximation for breast size using a 10-point scale ranging from “Smaller than AAA” to “Larger than DDD”. We also took into account age, breast-related surgeries (augmentation, reduction, or mastectomy), pregnancy and breastfeeding status, and bra band size (which is correlated with body mass index (BMI)).
Most of the genetic factors we identified for breast size lie in regions of great importance for breast cancer. One of the SNPs, rs12173570, is known to regulate the expression of the estrogen receptor gene, which plays a vital role in breast growth and in the majority of breast cancer cases (known as “ER+” or “hormone positive” types).
Another one of these SNPs, rs7816345, is located in a region of the genome (8p21) that often shows abnormalities in people with a certain subtype of breast cancer. Scientists also recently reported <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3076615/">genetic factors influencing breast density</a> &#8212; a <a href="http://www.nejm.org/doi/full/10.1056/NEJMoa062790">risk factor</a> for breast cancer &#8212; and our research suggests that one of those factors may also be associated with breast size.
These findings show that some of the same biological pathways underlie both normal breast growth and breast cancer. This isn’t a huge surprise if you think of cancer as unrestrained growth. But the relationship between breast size and breast cancer is complicated. <a href="https://www.ncbi.nlm.nih.gov/pubmed/10231159">Some</a> <a href="https://www.ncbi.nlm.nih.gov/pubmed/16284954">studies</a> have found that larger breast size as a young woman is associated with a slight increase in breast cancer risk, but only in women who were lean at a young age. The genetic factors we found aren’t enough to explain this association, but support the idea that breast size and breast cancer are related.
While the topic of breast size raised a few eyebrows when we first put out the survey (some thought it was too personal, or couldn’t be serious science), this paper demonstrates that important scientific insights can come from the most unlikely of places. Although the connections between these genetic factors, breast size, and breast cancer aren’t fully understood, our findings give clues to the function of some of these genes and regions that might be useful in combating breast cancer.

Genetics linked to breast size and breast cancer risk

<img decoding="async" class="alignright size-full wp-image-13288" title="CancerInfographic" src="https://blog-api.23andme.com/wp-content/uploads/2012/05/CancerInfographic.jpg" alt="" width="625" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/05/CancerInfographic.jpg 849w, https://blogcms.23andme.com/wp-content/uploads/2012/05/CancerInfographic-300x254.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/05/CancerInfographic-768x650.jpg 768w" sizes="(max-width: 849px) 100vw, 849px" />
23andMe is passionate about fighting cancer. We’re researching specific forms of cancer and treatments (see sidebar) and also learning more generally about cancer through our Cancer Family History survey (men’s version and women’s version). Personal experiences have the potential to fuel important research discoveries and by taking this survey customers can tell us how cancer has touched their lives.
<div style="float: right; text-align: justified; width: 200px; background-color: #eee; padding: 15px; margin-left: 10px; margin-bottom: 10px; font-size: 12px;">
May is National Cancer Research Awareness Month
You can contribute to research on cancer by taking the Cancer Family History survey (men’s version and women’s version) and if eligible, participating in the following studies:
&#8211; Do you have sarcoma, or know someone who does? Learn how to join our <a href="https://www.23andme.com/sarcoma/">Sarcoma research community today</a>.
&#8211; Do you have an MPN, or know someone who does? Learn how to join our <a href="https://www.23andme.com/mpn/">MPN research initiative today</a>.
&#8211; If you or someone you know has been diagnosed with metastatic breast cancer, check out our <a href="https://www.23andme.com/invite-study/">innovative online study with Genentech</a>.
</div>
Within just 2 months of launching the survey over 20,000 customers (9,700 women and 11,000 men) have completed it! Although we’ll likely need more data to be able to find interesting genetic and non-genetic associations for different types of cancer, what people are already telling us is very interesting:
<ul>
<li>Cancer is relatively common in the 23andMe database</li>
</ul>
About 20% of women and 16% of men had a diagnosis of some form of cancer (this included relatively common non-melanoma skin cancers). These numbers are higher than the <a href="https://www.cdc.gov/nchs/fastats/cancer.htm" target="_blank" rel="noopener noreferrer">national adult average of 8.5%</a>, which may reflect the fact that 23andMe customers include individuals enrolled in our <a href="https://www.23andme.com/sarcoma/" target="_blank" rel="noopener noreferrer">Sarcoma</a>, <a href="https://www.23andme.com/mpn/" target="_blank" rel="noopener noreferrer">MPN</a> and <a href="https://www.23andme.com/invite-study/" target="_blank" rel="noopener noreferrer">Metastatic breast Cancer</a> research communities. People with a strong family history of cancer might also be more interested in undergoing genetic testing and taking this survey.
<ul>
<li>Approximately 50% have a 1st degree relative with cancer</li>
</ul>
Just over half of respondents have a mother, father, child or sibling who had been diagnosed with cancer.
<ul>
<li>Many have parents who suffered from breast or prostate cancer</li>
</ul>
Nearly 10% of respondents (combined male and female) have a mother with breast cancer while just over 1% had a father with prostate cancer.

Cancer Touches Everyone

Cancer is not one disease, but many.
Even looking specifically at breast cancer or sarcoma, the more researchers study these diseases, the more they understand that there are many different kinds of breast cancer and sarcoma.
This has been one of the most challenging aspects of researching cures for cancer.
This month is National Cancer Research Awareness Month, and 23andMe is highlighting our work in cancer research. We’re also talking to some of the people involved in the research and letting you know about some of the more exciting developments in the field.
<div style="float: right; text-align: justified; width: 200px; background-color: #eee; padding: 15px; margin-left: 10px;">
<img loading="lazy" decoding="async" class="alignright size-medium wp-image-11373" title="researchrevolution-fist" src="https://blog-api.23andme.com/wp-content/uploads/2012/02/researchrevolution-fist-173x300.jpg" alt="" width="173" height="300" />
&#8211; Do you have sarcoma, or know someone who does? Learn how to join our <a href="https://www.23andme.com/sarcoma/">Sarcoma research community today</a>.
&#8211; Do you have an MPN, or know someone who does? Learn how to join our <a href="https://www.23andme.com/mpn/">MPN research initiative today</a>.
&#8211;   If you or someone you know has been diagnosed with metastatic breast cancer, check out our <a href="https://www.23andme.com/invite-study/">innovative online study with Genentech</a>.
</div>
Earlier this year, George Demetri, a doctor and scientist who is an unpaid advisor to our<a href="https://www.23andme.com/sarcoma/"> Sarcoma research initiative</a>,<a href="../2012/03/12/talking-about-sarcoma-with-george-demetri/"> noted how different sarcomas</a> were. Not just under the microscope but when you look at them at the genetic level. Dr. Demetri said, this is where 23andMe’s research model offers so much promise. Using genetics may help us connect the right patient to the right drug. It can help change the one size fits all approach to clinical research and it holds the promise of other targeted medicines.
Scientists have found specific mutations that drive specific forms of cancer. There is already a long list of successes, Demetri said, whether from a drug that targets the HER2 protein in certain types of breast-cancer, or  from the use of Gleevec to target a specific protein in the treatment of chronic myeloid leukemia. 
Right now, 23andMe has three studies focused on cancer.
We first applied our unique research platform to study cancer in April 2010 with the launch of our <a href="https://www.23andme.com/sarcoma/">Sarcoma Research Initiative</a>. We are already very close to reaching our goal of enrolling 1,000 people with the disease. Last summer we launched a <a href="https://www.23andme.com/mpn/">Myeloproliferative Neoplasms Research Initiative</a> to study this group of very rare blood cancers. More than 650 patients have joined this research project in just 9 months, and we announced our first research finding earlier this year. Finally, we’ve joined forces with Genentech to start a<a href="https://www.23andme.com/invite-study/"> unique online breast cancer study</a> to look at how genes influence a person’s response to treatment for metastatic breast cancer.
In each of these studies we believe we can change how clinical trials and cancer research is done. We want to make it cost less and take less time. We want to leverage the power of the web to bring down some of the barriers to participate and give people access to their genetic data in the process.
23andMe was started on this premise, and our research communities are the embodiment of that goal. Patients from all over the world can contribute directly to research and connect with others who have their disease, all while learning more about themselves.
We are also always looking for other genetic associations with cancer, and currently have two separate Cancer Family History Surveys, one for men and one for women.
We hope that over time this work will lead to important breakthroughs in the fight against cancer. Over the next few weeks we’ll be posting more stories about cancer, the research going on to fight the disease and some of the people at the forefront of that work. Stay tuned.

National Cancer Research Awareness Month

Clinical trials are often conducted at major hospitals and medical centers.    As you can imagine, it can be expensive to use hospital resources and take a large amount of  doctors’ and nurses’ time.
<img loading="lazy" decoding="async" class="alignright wp-image-11765 size-full" title="Togethermakedifference" src="http://35.88.189.111/wp-content/uploads/2012/03/Togethermakedifference.jpg" alt="" width="369" height="382" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/03/Togethermakedifference.jpg 369w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Togethermakedifference-290x300.jpg 290w" sizes="auto, (max-width: 369px) 100vw, 369px" />
It can also be difficult to find people to participate in clinical trials.    For those who do participate, it can be very time consuming.    For example if a person does not live  near the hospital where the trial is being conducted, the travel back and forth to doctor appointments alone can be a hardship.
We believe that people deserve better.    When we started 23andMe, our dream was to change how we approach clinical trials.    We want to make it less expensive, less  time consuming and ultimately speed the pace of meaningful research and discoveries.
Today — we feel like things are starting to change.    This week we announced that 23andMe and Genentech launched <a href="https://www.23andme.com/invite-study/">an online breast cancer study</a> to learn more about  how genes influence a person&#8217;s response to bevacizumab (also known as Avastin ®) in the treatment of metastatic breast cancer.
We are looking for 1,000 women with metastatic breast cancer who took bevacizumab in 2010 or 2011.  Normally this kind of clinical trial would take years to do.  We believe that by  leveraging the web and modern technology we can do this study much faster, more effectively and for less money.
We salute Genentech for seizing the opportunity to rethink the approach to researching medicines with this first-of-its-kind clinical trial.  Technology has improved our  lives and will hopefully soon improve all our health care.
Bevacizumab is not approved by the FDA for the treatment of breast cancer. The InVite study is for research purposes only.
For more information on bevacizumab visit  <a href="http://www.gene.com/gene/products/information/oncology/avastin" target="_blank" rel="noopener noreferrer">http://www.gene.com/gene/products/information/oncology/avastin</a>. For more information on 23andMe&#8217;s and Genentech&#8217;s online metastatic breast cancer study visit <a href="https://www.23andme.com/invite-study/#">https://www.23andme.com/invite-study/#</a>.
<div>
<div id=":a" data-tooltip="Hide expanded content"><img decoding="async" src="https://mail.google.com/mail/images/cleardot.gif" alt="" /></div>
</div>

Breast Cancer Research Goes Online

<img decoding="async" class="alignright size-medium wp-image-10750" title="top10ten" src="https://blog-api.23andme.com/wp-content/uploads/2011/12/top10ten-266x300.jpg" alt="" width="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/12/top10ten-266x300.jpg 266w, https://blogcms.23andme.com/wp-content/uploads/2011/12/top10ten.jpg 306w" sizes="(max-width: 266px) 100vw, 266px" />
We thought 2010 would be hard to top but we’re happy to say that 2011 has been even better. Scientists uncovered new insights into serious conditions like type 2 diabetes and autoimmune disorders as well as traits like iris patterns. New research has also improved our understanding of the genetics of obesity, a condition that affects nearly two-thirds of Americans. And we ourselves contributed even more to the understanding of Parkinson’s disease while delving into areas that researchers traditionally neglect.
All this and much more happened in 2011 and so this list represents just a snapshot of some of the most intriguing developments.
1. The genetics of Parkinson’s disease gets a little clearer and novel breakthroughs may contribute to potential new treatments.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-8774" title="cell-culture_petri-dish" src="https://blog-api.23andme.com/wp-content/uploads/2011/03/cell-culture_petri-dish-150x150.jpg" alt="" width="150" height="150" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/03/cell-culture_petri-dish-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2011/03/cell-culture_petri-dish-271x271.jpg 271w" sizes="auto, (max-width: 150px) 100vw, 150px" />
In June, 23andMe reported discovering novel genetic variants associated with Parkinson’s disease and in the process also replicated nearly two dozen previously reported associations. Later in the year, we also announced the discovery of <a href="https://blog.23andme.com/articles/parkinsons-discoveries" target="_blank" rel="noopener">a potential protective genetic factor</a> against Parkinson’s disease in the SGK1 gene. We’re not the only ones making progress &#8212; in March, scientists at Stanford announced that they’d successfully created <a href="https://blog.23andme.com/articles/milestones-in-the-fight-against-parkinsons-disease" target="_blank" rel="noopener">a line of cells</a> that exhibits biochemical properties of the disease in the petri dish. Together, these discoveries offer hope in the quest for determining causes and developing possible cures.
2. Genetic factors for type 2 diabetes are shared between populations of South Asian and European descent &#8212; but perhaps not equally.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-10069" title="IndianWoman(iStockblog) copy" src="https://blog-api.23andme.com/wp-content/uploads/2011/10/IndianWomaniStockblog-copy-150x150.jpg" alt="" width="150" height="150">
People with South Asian ancestry develop type 2 diabetes at much higher rates than people with European ancestry, but relatively little is known about the genetic factors influencing this increased risk in South Asians. A recent study of nearly 60,000 people of South Asian descent <a href="https://blog.23andme.com/articles/snpwatch-genetic-variants-associated-with-type-2-diabetes-in-south-asians-and-europeans" target="_blank" rel="noopener">identified several genetic variants linked to type 2 diabetes</a>. These variants also seem to be associated with the disease in Europeans, and similarly, genetic factors previously identified in Europeans appeared to be linked to the disease in South Asians. Most of these genetic variants, however, showed stronger effects in one population than the other.
3. Genetic associations with obesity differ depending on age.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-1483" title="medicalscale" src="https://blog-api.23andme.com/wp-content/uploads/2008/09/medicalscale-150x150.jpg" alt="" width="150" height="150">
Genetic variants in the FTO gene have been linked repeatedly to risk for obesity, but new research is also revealing the complex interplay between these variants and non-genetic factors. In a <a href="https://blog.23andme.com/articles/snpwatch-association-between-fto-variant-and-obesity-depends-on-age-and-impacts-development" target="_blank" rel="noopener">study published last February</a>, researchers found that the same version of an obesity-linked SNP had the opposite association with BMI in very young children than it did in older children. The association corresponds with a difference in a developmental marker known as “adiposity rebound”. The timing of adiposity rebound has been linked to obesity and related diseases later in life.
4. Genetic variation is in the eye &#8212; or iris patterns &#8212; of the beholder.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-1553" title="browneyes" src="https://blog-api.23andme.com/wp-content/uploads/2008/10/browneyes-150x150.jpg" alt="" width="150" height="150">
Rings, spots and flecks of color, lines and shapes and furrows – although no two irises are the same, what causes these differences? Thanks to an Australian study of nearly 3,000 individuals, we now know that at least <a href="https://blog.23andme.com/articles/snpwatch-genetic-variation-is-in-the-eye-of-the-beholder" target="_blank" rel="noopener">a few specific genetic variants contribute to the appearance of certain iris patterns</a> such as “crypts”, “furrow contractions”, and pigmented rings. So go on, take a look in the mirror and see what kind of patterns you have in your iris and your genetics!
5. Sex matters in genetic association studies.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-9756" title="diversity(iStockBlog)" src="https://blog-api.23andme.com/wp-content/uploads/2011/09/diversityiStockBlog-150x150.jpg" alt="" width="150" height="150">
Many diseases occur more frequently in one sex than the other but most genetic research doesn’t look at these differences, potentially missing genetic factors that have opposite effects in men and women or ones that only have an effect in one sex or the other. A Stanford research group analyzed data from one of the largest and first genome-wide association studies and found several genetic variants associated with Crohn’s disease and coronary heart disease in a sex-specific manner. They suggest that many more sex-specific factors are waiting to be identified.
6. His and Hers: Genetic factors underlying prostate cancer differ in different ethnicities and genetic factors influence breast density in women.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-4873" title="prostatemen" src="https://blog-api.23andme.com/wp-content/uploads/2009/09/prostatemen-150x150.jpg" alt="" width="150" height="150">
New studies continue to increase our understanding of prostate cancer and breast cancer, two of the most common cancers in men and women, respectively. Women with high mammographic density have four to five times higher risk for breast cancer and in January, researchers reported a <a href="https://blog.23andme.com/articles/snpwatch-researchers-identify-variant-associated-with-breast-density" target="_blank" rel="noopener">genetic variant linked to both mammographic breast density and breast cancer risk in women</a>. For prostate cancer, we know quite a bit about genetic factors in Europeans but far less about those relevant for African Americans. In May, one of the largest studies of prostate cancer in African Americans found that <a href="https://blog.23andme.com/articles/ethnicity-matters-in-research-a-case-study-in-prostate-cancer" target="_blank" rel="noopener">only half of the genetic factors</a> linked to prostate cancer in people of European descent are linked to the cancer in African Americans.
7. 23andMe initiatives old and new prove the power of participant-driven research.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-9055" title="sarcoma image" src="https://blog-api.23andme.com/wp-content/uploads/2011/05/sarcoma-image1-150x150.jpg" alt="" width="150" height="150">
In 2011, we launched two new research initiatives. The first, focused on myeloproliferative neoplasms, continues our commitment to advancing knowledge of rare diseases using our unique research platform. The second initiative, Roots into the Future, aims to improve our understanding of the connection between DNA and disease in African Americans, a population that is significantly understudied. We’ve been enrolling participants into both of these initiatives at an incredible pace and are extremely excited to begin making important discoveries with their help. And as our Sarcoma Community Night showed us, our research participants are among the most passionate and inspiring people in the world.
8. Scientists discover new genetic factors for migraine susceptibility and 23andMe replicates the findings in days.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-5157" title="migraine" src="https://blog-api.23andme.com/wp-content/uploads/2009/10/migraine-150x150.jpg" alt="" width="150" height="150" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/10/migraine-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2009/10/migraine-271x271.jpg 271w" sizes="auto, (max-width: 150px) 100vw, 150px" />
In June, the largest migraine study to date reported three genetic variants associated with risk for this debilitating disorder. It turns out that 23andMe’s database contains thousands of people who suffer from migraines and we were able to replicate the new study’s findings in a matter of days. This is just a small example of the power and speed of our research platform as shown by a paper we published in August replicating more than 180 genetic associations for three dozen different medical conditions in a fraction of the time it would take using the traditional research model.
9. Many genetic factors are shared across multiple autoimmune disorders.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-5013" title="dnaoragami" src="https://blog-api.23andme.com/wp-content/uploads/2009/10/dnaoragami-150x150.jpg" alt="" width="150" height="150">
Numerous studies have pinpointed genetic factors associated with autoimmune disorders such as rheumatoid arthritis, multiple sclerosis, lupus, and psoriasis to name a few. Some of these genetic factors pop up over and over again, raising the question of whether these disorders are genetically interconnected. A study published in August took a closer look at this question by examining more than 100 genetic variants previously linked to autoimmune disorders. The result: nearly half of these variants are associated with at least two different conditions.
10. New insights into our shared African ancestry, both ancient and recent.
<img loading="lazy" decoding="async" class="alignright size-thumbnail wp-image-8628" title="Hadza-hunter" src="https://blog-api.23andme.com/wp-content/uploads/2011/03/Hadza-hunter-150x150.jpg" alt="" width="150" height="150" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/03/Hadza-hunter-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2011/03/Hadza-hunter-271x271.jpg 271w" sizes="auto, (max-width: 150px) 100vw, 150px" />
Prevailing scientific thought pins the origins of the human species in eastern Africa, but new research published this past March suggests a different story. By measuring genetic variation from different populations around Africa, researchers at Stanford, UCSF and 23andMe found evidence that our ancestral origins may actually lie in southern Africa. And for many people of European descent, their African ancestral origins may be much closer than that. Scientists at 23andMe examined the genetic ancestry of nearly 80,000 individuals who are likely to identify as entirely of European ancestry and discovered that between three and four percent have some amount of “<a href="https://blog.23andme.com/articles/hidden-african-ancestry" target="_blank" rel="noopener">hidden African ancestry</a>”.

Our Top 10 for 2011

<img loading="lazy" decoding="async" class="alignnone size-medium wp-image-9867" src="https://blog-api.23andme.com/wp-content/uploads/2011/09/babyteethiSTock1-300x199.jpg" alt="" width="300" height="199" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/09/babyteethiSTock1-300x199.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2011/09/babyteethiSTock1.jpg 425w" sizes="auto, (max-width: 300px) 100vw, 300px" />
By Bethann Hromatka, Ph.D.
Anyone who’s ever spent time around babies knows that teething can be disruptive and often painful. In that sense, the somewhat violent term “tooth eruption”–referring to the process of teeth breaking through the gums–seems rather appropriate.
Most people experience this phenomenon twice, first when baby teeth come in and again between six and 13 years of age when permanent teeth appear. Some people also have wisdom teeth, which are molars that develop in young adults.
While tooth development can be influenced by environmental factors, genetics also plays a role in both the timing of tooth emergence as well as the number of teeth a person ends up with. Subtle differences in tooth development are very common–for instance roughly 10% of the population is missing some teeth.
A genome-wide association study (GWAS) published in PLoS Genetics this month by <a href="http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1002275" target="_blank" rel="noopener">researchers in Denmark</a> has now identified genetic factors associated with the emergence of permanent teeth. They analyzed DNA from nearly 9,000 individuals in Denmark and the United States, and found four SNPs that influenced the timing and number of visible teeth at various ages.
For at least three of these SNPs found in this study, the version associated with fewer teeth is relatively common in the population. And although the individual effects of the variants are small – correlated with about half to one tooth fewer, on average – they did seem to add up. In this study, someone with two copies of the “delayed tooth eruption” version at all four SNPs had about six fewer teeth (16 teeth) at 10-12 years of age compared to someone with no copies of the delayed versions (22 teeth).
Interestingly, a <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1000856" target="_blank" rel="noopener">study published a few years ago</a> showed that two of these SNPs might also play a role in the <a href="https://blog.23andme.com/2010/03/04/snpwatch-researchers-identify-variations-associated-with-when-junior-gets-his-first-chompers/" target="_blank" rel="noopener">eruption of baby teeth</a>.<a href="../2010/03/04/snpwatch-researchers-identify-variations-associated-with-when-junior-gets-his-first-chompers/"> 
</a>
Some genetic factors contribute to multiple growth-related traits, so the authors tested if the tooth development SNPs were also linked to traits such as age at menarche (first period in young women) and adult height. In general, the genetic factors underlying these traits did not overlap. There was, however, weak evidence suggesting that several of the SNPs associated with permanent tooth development also influence adult height and breast cancer. More research is needed to determine the exact biological mechanisms linking these different traits.
This study represents the first GWAS to look for genetic factors involved in permanent tooth eruption. Studies like this one are interesting because they reveal that there is clearly natural variation across the population–some individuals have more teeth while others have less. These findings also highlight the complex interplay between genetic factors involved in human growth and development.

Bethann Hromatka

Factors Influencing Permanent Tooth Development

<img loading="lazy" decoding="async" class="alignright size-full wp-image-8490" src="https://blog-api.23andme.com/wp-content/uploads/2011/02/mammogramblog.jpg" alt="" width="300" height="199" />
Mammography is a common imaging method used to screen for breast cancer, the second most common cancer in women. The result of a mammogram is a simple black and white image of the tissues that make up the breast. But even an image displaying apparently healthy breast tissue may still show signs that could be useful in assessing risk for breast cancer. It turns out that density &#8212; the proportion of dense (white) areas that appear on a mammogram &#8212; matters. In the last decade, research has revealed that women with high mammographic density (&gt;75% dense tissue on a mammogram) have four to five times higher risk for breast cancer.
Characteristics such as age and BMI can affect mammographic density, but it’s estimated that over 60% of the variability in mammographic density is due to genetic factors. In an effort to identify these genetic factors, a multi-national team of researchers searched for genetic variants linked to this trait in 7,712 European women with known breast density. In results published recently in <a href="https://www.nature.com/ng/journal/vaop/ncurrent/full/ng.760.html" target="_blank" rel="noopener">Nature Genetics</a>, the researchers identified a variant in a gene called ZNF365 that is correlated with breast density. They found a variant associated with a 2% decrease in mammographic density.   This association of with breast cancer replicated a <a href="https://www.nature.com/ng/journal/v42/n6/full/ng.586.html" target="_blank" rel="noopener">similar result</a> found by another research group in 2010.
While the authors state that the effects of may only account for a fraction of the of the variability in mammographic density, they note that this seemingly small decrease in density is also associated with a meaningful decrease in breast cancer risk. Although the data from this study suggests that genetic variation in ZNF365 could be affecting breast cancer risk by influencing mammographic density, further research is required to confirm this finding and to determine the other genetic factors that are involved.

breast cancer — Page 3