By Amick Boone
(Editor&#8217;s note 8/21/202: This post has been slightly edited from when it first published in 2017.) Seven-year-old Shilah Yin likes being different. She even likes it when people describe her hair — a thick frizzy blond mane that juts out at all angles — as looking like the wacky time-traveling scientist Doc Brown’s from Back to the Future. Luckily it’s one of her favorite movies.
<div id="attachment_25723" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-25723" class="wp-image-25723 size-medium" src="http://35.88.189.111/wp-content/uploads/2017/09/Scalp_hair-uncombable_hair_syndrome-1-300x164.gif" alt="A case of uncombable hair syndrome" width="300" height="164" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/09/Scalp_hair-uncombable_hair_syndrome-1-300x164.gif 300w, https://blogcms.23andme.com/wp-content/uploads/2017/09/Scalp_hair-uncombable_hair_syndrome-1-271x149.gif 271w, https://blogcms.23andme.com/wp-content/uploads/2017/09/Scalp_hair-uncombable_hair_syndrome-1-372x204.gif 372w" sizes="auto, (max-width: 300px) 100vw, 300px" />Source: Cobb HK, Tiu AY. &#8220;A case of uncombable hair syndrome and global developmental delays.&#8221; International Journal of Case Reports and Images 2017;8(2):108–111. doi:10.5348/ijcri-201718-CR-10757</div>
Shilah has something called “uncombable hair syndrome.” It’s a real but rare genetic disorder affecting the hair shaft of the scalp characterized by silvery-blond or sometimes straw-colored hair that stands out from the scalp in a disorderly way and cannot be combed flat.
Stories published in <a href="https://www.today.com/health/uncombable-hair-syndrome-condition-gives-girl-unruly-mane-t114586">Today</a> and <a href="http://www.dailymail.co.uk/femail/article-4735506/Melbourne-schoolgirl-Unbrushable-Hair-Syndrome.html">Daily Mail</a> report that Shilah was born with brown hair, but a strawberry-blond fuzz began to appear when she was about three months old. From then on, it grew straight out from her scalp and became blonder.
Shilah says she’s special and unique, like a unicorn, and her family supports her positive attitude. They document her experience on Instagram to share how special Shilah is and to make others aware of the disorder.
<h2>A Rare Hair Disorder</h2>
Uncontrollable hair syndrome is specific to children, first appearing between three months and 12 years and usually improving or resolving by puberty.
The condition only affects a child’s scalp hair. While the amount of hair remains normal, it often grows slowly. Over time, the hair becomes progressively dry and turns silvery-blond or straw-colored, standing out and growing in different directions.
The first case of uncontrollable hair syndrome was reported in 1912, and in 1973, the syndrome was named &#8220;cheveux incoiffables&#8221; by doctors in France. In the 1980s, it also became known as “spun-glass hair.”
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<h3>Does 23andMe Test for Uncombable Hair Syndrome?</h3>
23andMe doesn’t report on the genes that cause uncombable hair syndrome, but we do report on genes that influence other hair traits.
23andMe offers customers reports on hair curliness, hair color, <a href="https://www.23andme.com/topics/traits/newborn-hair">newborn hair amount</a>, <a href="https://www.23andme.com/topics/traits/unibrow/">unibrow</a>, and widow’s peak. For men, we report on whether or not you’ve inherited genes that influence back hair, hair loss, or bald spots. <a href="https://www.23andme.com/dna-health-ancestry/">Learn more</a>.
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<h2>How Genetics Contribute to Uncombable Hair Syndrome</h2>
According to the National Institutes of Health, the syndrome is caused by variants in the genes PADI3, TGM3, and TCHH. These three genes code for proteins involved in hair shaft formation. The syndrome appears to be inherited in an <a href="https://medlineplus.gov/ency/article/002052.htm">autosomal recessive</a> fashion, which means that if both parents are carriers, there is a 25 percent chance of their child inheriting both abnormal variants and, consequently, developing the syndrome. There is a 50 percent chance of a child inheriting only one abnormal gene and being a carrier. There is also a 25 percent chance of the child inheriting both normal variants.
These are the variants that researchers know about. Scientists also suspect that some cases of uncombable hair syndrome are caused by other genes that have not yet been identified. These could be inherited, by contrast, in an <a href="https://medlineplus.gov/ency/article/002049.htm">autosomal dominant </a>manner, meaning that having a variant in only one copy of the responsible gene in each cell is enough to cause the condition. When a person with a variant that causes an autosomal dominant condition has children, each child has a 50 percent (1 in 2) chance of inheriting the variant.
Many of these autosomal dominant cases may occur with “reduced penetrance,” which means that not all people with a variant in the responsible gene will have uncombable hair syndrome. With reduced penetrance, a condition may appear to “skip a generation” or may appear to occur for the first time, or only once, in a family.
<h2>Diagnosing Uncombable Hair Syndrome</h2>
People with uncombable hair syndrome often report that no one in their family has had it, and that may well be the case, from what they can see. However, hair shaft abnormalities associated with the syndrome have shown up in unaffected family members when they looked at their hair under a specific type of microscope.
The individual hair strands are either triangular or kidney-shaped in cross-section. The hair strands have a groove along one or two faces. To diagnose uncombable hair syndrome, doctors observe symptoms. They also look under a microscope for these characteristic hair strand qualities.
<h2>Is there Treatment for Uncombable Hair Syndrome?</h2>
Unfortunately, there is no proven treatment for the syndrome. However, the condition usually improves or resolves on its own with the onset of puberty. Gentle hair care is recommended using conditioners and soft brushes. It&#8217;s also recommended to avoid harsh hair treatments, excessive brushing, and blow-drying. Some published studies suggest that <a href="https://en.wikipedia.org/wiki/Biotin">biotin supplements</a> may improve the condition.
Shilah, for her part, loves her unruly hair. She especially likes it when her dad combs and dries. Together, they want to fluff it up as big as it can get.
Learn more about how genetics influences your hair color, curl, thickness, and texture <a href="https://www.23andme.com/topics/traits/hair-texture/">here</a>. 
Amick Boone is a freelance writer who has written about health and life sciences for over a decade.  When she&#8217;s not at her computer, she&#8217;s usually in motion &#8211; doing yoga, riding her bike or traveling.

Amick Boone

Understanding Uncombable Hair Syndrome

We all hunger for identity. It gives us a sense of belonging. But increasingly, traditional categories fall short. We are all more than just white or black, Latino or Asian. We need a better way to define ourselves. <img loading="lazy" decoding="async" class="alignright size-medium wp-image-25713" src="https://blog-api.23andme.com/wp-content/uploads/2017/09/media-2-300x300.png" alt="" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/09/media-2-300x300.png 300w, https://blogcms.23andme.com/wp-content/uploads/2017/09/media-2-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2017/09/media-2-271x271.png 271w, https://blogcms.23andme.com/wp-content/uploads/2017/09/media-2-372x372.png 372w, https://blogcms.23andme.com/wp-content/uploads/2017/09/media-2.png 377w" sizes="auto, (max-width: 300px) 100vw, 300px" /> 

<h2>Self Exploration</h2>
At the core of the <a href="https://www.23andme.com/" target="_blank" rel="noopener">23andMe</a> experience is self-exploration, giving people a chance to peer into their DNA to find that subtle, sometimes surprising, and even uncomfortable mix in their identity: A Lebanese man with deep Arab roots learning he has <a href="https://youtu.be/0ueSiDXce2E">Ashkenazi Jewish ancestry</a>, an African American woman of deep faith learning that her <a href="https://youtu.be/iMk-ZdBLcEE">religious heritage</a> is more mixed than she imagined, a proud son of the South meeting and reconciling with his <a href="https://www.youtube.com/watch?v=akc6tbW8aOg&amp;list=PLFvkfbvHpp1lQ8bqNZaO629ePXdH7qSPx&amp;index=2&amp;pbjreload=10">African American cousin</a>, and a successful young woman, <a href="https://youtu.be/PLazxh2pBdQ">Angelina</a>, who described herself as African American discovering she has Native American and Latino ancestry.
For years, we’ve heard from customers who have shared their stories of self-exploration. Over the summer, we began to explore some of these in short videos. We delve into this new notion of self-identity, finding people who learn about their own surprising mixed ethnicity.
<h2>New Campaign</h2>
Elegantly assembled by Emmy Award-winning filmmakers Jeremy Levine and Landon Van Soest of Transient Pictures, this campaign is more than just a company embracing a message of diversity. It offers people the tools to look into their DNA to help them redefine themselves and change how they look at the world.
<img loading="lazy" decoding="async" class="aligncenter wp-image-25712 size-full" src="http://35.88.189.111/wp-content/uploads/2017/09/Stories.001.jpg" alt="" width="1024" height="768" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/09/Stories.001.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2017/09/Stories.001-300x225.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2017/09/Stories.001-768x576.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2017/09/Stories.001-880x660.jpg 880w" sizes="auto, (max-width: 1024px) 100vw, 1024px" />

23andMe Blog

23andMe Blog Team

23andMe Customers Share Their Stories of Discovery

In a first-of-its-kind study, researchers at 23andMe found a link between the susceptibility for some of the most common infectious diseases and dozens of specific variants in genes involved in the body’s frontline immune response system.<img loading="lazy" decoding="async" class="alignright size-medium wp-image-25703" src="https://blog-api.23andme.com/wp-content/uploads/2017/09/iStock-174861783-300x200.jpg" alt="" width="300" height="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/09/iStock-174861783-300x200.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2017/09/iStock-174861783-768x513.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2017/09/iStock-174861783-1024x684.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2017/09/iStock-174861783-880x588.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2017/09/iStock-174861783-1180x788.jpg 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Published today in the journal <a href="https://www.nature.com/articles/s41467-017-00257-5">Nature Communication</a>, the research is unique. Up until now, very few genome-wide association studies (GWAS) have looked specifically at common and non-life threatening infectious diseases. Most have focused on more serious maladies such as HIV, hepatitis, and malaria.
“While these are not as serious as HIV or malaria, they are the most common infections suffered by people and they have a profound impact on human health,” said lead author Chao Tian, Ph.D., a Senior Statistical Geneticist at 23andMe.
<div id="attachment_20934" style="width: 310px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-20934" class="wp-image-20934 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2014/05/Chao-Square-Photo-300x300.jpeg" alt="" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2014/05/Chao-Square-Photo-300x300.jpeg 300w, https://blogcms.23andme.com/wp-content/uploads/2014/05/Chao-Square-Photo-150x150.jpeg 150w, https://blogcms.23andme.com/wp-content/uploads/2014/05/Chao-Square-Photo-768x769.jpeg 768w, https://blogcms.23andme.com/wp-content/uploads/2014/05/Chao-Square-Photo-1024x1024.jpeg 1024w, https://blogcms.23andme.com/wp-content/uploads/2014/05/Chao-Square-Photo-880x880.jpeg 880w, https://blogcms.23andme.com/wp-content/uploads/2014/05/Chao-Square-Photo-1180x1180.jpeg 1180w, https://blogcms.23andme.com/wp-content/uploads/2014/05/Chao-Square-Photo-271x271.jpeg 271w, https://blogcms.23andme.com/wp-content/uploads/2014/05/Chao-Square-Photo-372x372.jpeg 372w, https://blogcms.23andme.com/wp-content/uploads/2014/05/Chao-Square-Photo-574x574.jpeg 574w, https://blogcms.23andme.com/wp-content/uploads/2014/05/Chao-Square-Photo-980x980.jpeg 980w" sizes="auto, (max-width: 300px) 100vw, 300px" />Chao Tian, PhD, a Senior Statistical Geneticist at 23andMe, who is the lead author of the paper.</div>
<h6>Health History</h6>
For this study, Chao and a team of researchers at 23andMe looked at data from more than 200,000 23andMe customers who consented to participate in research and who completed surveys on their health history.
By looking at their history of infections and infection-associated procedures, as well as running GWAS  on those conditions, the researchers were able to identify relationships between host genes and common infections.
The conditions that they found associations for include chickenpox, shingles, cold sores, mononucleosis, mumps, hepatitis B, strep throat, <a href="https://blog.23andme.com/articles/study-on-pneumonia">pneumonia</a>, yeast infections, urinary tract infections, tonsillectomy and childhood ear infections, to name a few.
<h6>Associations</h6>
In all, more than 50 genetic variants were found that were associated with 23 common infectious diseases. The study also revealed important roles of specific amino acid mutations at the antigen-binding site of human leukocyte antigen (HLA) genes. The HLA genes are the hundreds of genes on chromosome 6 that regulate the body&#8217;s immune system.
Each individual’s HLA response is expressed slightly differently as it discerns whether something is an invading pathogen, like a virus or bacteria. That difference can have an impact on an individual’s susceptibility to infectious diseases.
<h6>Different HLA Regions</h6>
The study found that the associations map to different HLA regions. These differences depend on whether the infectious disease is caused by a virus, as with shingles, or if it was induced from bacteria, as with <a href="https://blog.23andme.com/articles/study-on-pneumonia">pneumonia</a>.
Previous research  has found associations between HLA systems and some individual diseases. Among those studies was one <a href="http://stm.sciencemag.org/content/9/389/eaai8708">published in May</a> by researchers at Vanderbilt University Medical Center (VUMC) and the University of Arizona College of Pharmacy.
The study used electronic health records and genetic information from about 28,000 people. By combing this information the study found associations between HLA regions and certain autoimmune diseases such as type 1 diabetes and rheumatoid arthritis. However, there have been very few studies of this type, and this new research from 23andMe is the first to look at common infections.
Read the full paper in Nature Communications <a href="https://www.nature.com/articles/s41467-017-00257-5">here</a>.

Study Finds Genetic Links for Vulnerability to Common Infectious Diseases

A new survey found that most Americans are interested in using DNA testing to understand more about their health and ancestry, but the national survey also revealed a need for better education around the science of genetics.
Commissioned by 23andMe, the survey found that people had a strong interest in genetics, but that interest was out ahead of their understanding of the science. Many people still struggle with basic genetic concepts, according to the survey. This gap in genetic literacy follows similar findings around the need for improved <a href="http://www.pewinternet.org/2015/09/10/what-the-public-knows-and-does-not-know-about-science/">science literacy in the United States</a>.
Thao Do, PhD, 23andMe Education and Academia Program Manager, sees that gap between interest in genetics and knowledge about genetics as an opportunity, for engaging with people on the science.
“It presents an opportunity to educate people in fun and interesting ways,” said Thao.
Genetic testing itself offers people an engaging way not just to learn more about their health and ancestry, but also the science behind their results.
The survey offered some striking contrasts between people expressing a strong desire to tap into potential insights obtained by genetic testing, while at the same time illustrating that they did not fully understand the science behind the tests. For example, nearly three-fourths of those surveyed (74 percent) said they were interested in testing, but about the same percentage of people (75 percent) didn’t know that humans have 23 pairs of chromosomes.
But most most Americans, about 77 percent, know that genetics plays a role in the risk for certain diseases, and about 90 percent of respondents knew that DNA testing could inform them about their ancestry. The vast majority of Americans, 94 percent, said that whether it is information about their health, or ancestry, or traits, that they feel they have a right to at-home DNA testing to directly access this type of genetic information.
23andMe partnered with Kelton Global to generate the 23andMe DNA Survey, which was conducted between July 5th, 2017 and July 12th, 2017 among 1,000 nationally representative Americans ages 18+, using an e-mail invitation and an online survey, with a margin of error of +/- 3.1%.
<img loading="lazy" decoding="async" class="aligncenter size-full wp-image-25728" src="https://blog-api.23andme.com/wp-content/uploads/2017/09/Survey-Infographic-facts-fix.jpg" alt="" width="2667" height="9140" />

23andMe Asks About DNA

Researchers at 23andMe and Genentech have identified 17 new genetic variants associated with <img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2015/06/Brain-Logo-287x300.jpg" alt="" class="alignright wp-image-22635 size-medium" width="287" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2015/06/Brain-Logo-287x300.jpg 287w, https://blogcms.23andme.com/wp-content/uploads/2015/06/Brain-Logo.jpg 438w" sizes="auto, (max-width: 287px) 100vw, 287px" /><a href="http://www.23andme.com/topics/health-predispositions/parkinsons-disease/">Parkinson’s disease</a>. The findings almost doubling the total number of known risk variants for the condition. They gives scientist hints at potential new targets for drugs to treat the disease.
The work is part of a multi-year collaboration between the two companies begun in early 2015 aimed at identifying new therapeutic targets for Parkinson’s.
<h6>Research on Parkinson&#8217;s Disease</h6>
“We are incredibly excited by these findings and their potential to lead to breakthroughs in therapeutic research and treatment for Parkinson’s disease,” said Anne Wojcicki, 23andMe’s co-founder and CEO. “The 23andMe Parkinson’s community is powered by our customers who are motivated to make a difference and see the Parkinson&#8217;s research advance.   The community is unlike any other, and it is an incredible asset for researchers to make breakthrough discoveries. These findings are a testament to both the power of the 23andMe Parkinson’s community and the company’s novel research model.”
Published in the journal <a href="https://www.nature.com/ng/journal/vaop/ncurrent/full/ng.3955.html?foxtrotcallback=true">Nature Genetics</a>, the study is the largest meta-analysis of Parkinson’s disease to date, using data from more than 425,000 individuals.
<h6>Large Study Size</h6>
More than 370,000 of those individuals were 23andMe customers who consented to participate in research. About 10,000 of them have Parkinson’s disease and are part of 23andMe’s Parkinson’s Research community, which is now the largest Parkinson’s disease community for genetic research in the world. The researchers also used data from individuals that are part of<a href="http://www.pdgene.org/citing"> PDGene</a>, a clearinghouse for Parkinson’s related research data that also includes data from 23andMe.
In addition to identifying the 17 new risk genetic variants associated with Parkinson’s, the study confirmed many variants already known to be associated with Parkinson’s. A neurology-centric strategy was used to identify candidate genes linked to variants associated with Parkinson’s. These genes are involved in lysosomal and autophagy biology, sometimes referred to as the body’s recycling and trash collection centers. This vital process involves first a sweep of the cells by autophagosomes, which collect damaged material. Then that material is transferred to lysosomes, which either break down the material or recycle it into new structures.
<h6>Hints Concerning the Development and Progression of Parkinson&#8217;s</h6>
More recent research suggest that beyond its important recycling function, autophagy and lysosomal biology may also play important roles in<a href="https://www.quantamagazine.org/lysosomes-gene-regulation-signaling/"> regulating cell function</a>. Last year the Japanese researcher<a href="https://www.theguardian.com/science/2016/oct/03/yoshinori-ohsumi-wins-nobel-prize-in-medicine"> Yoshinori Ohsumi</a> won a Nobel Prize for his work looking at autophagy and its role in certain diseases like Parkinson’s. (Here’s more on <a href="https://www.quantamagazine.org/lysosomes-gene-regulation-signaling/">autophagy and lysosomal biology</a>.)
Mounting evidence suggests that this process of clearing out damaged cellular material may be impaired in patients with Parkinson’s, and that this may contribute to the development and progression of the disease. Parkinson’s disease, which affects an estimated six million people worldwide, is characterized by loss of nerve cells in various parts of the body, including dopaminergic neurons in the brainstem, an area important for the regulation of movement. The loss of neurons is associated with accumulation of insoluble abnormal forms of the protein alpha-synuclein, which make up the Lewy body deposits characteristic of Parkinson’s. These abnormal proteins are believed to impair nerve cell function and survival.
Not all candidate genes make good therapeutic targets. Most drugs are small chemical molecules. The term <a href="https://commonfund.nih.gov/idg/overview">“druggable genome,”</a> is often used to include those genes that make proteins whose function can be changed by the binding of drug-like small molecules.
A number of the candidate genes identified in this study — such as STK39 and ITPKB — fall into this category. They may therefore represent new targets for the discovery and development of novel treatments for Parkinson’s.

New Genetic Associations for Parkinson’s Disease Identified

Like moving to the top of a ridge to suddenly see the landscape anew, Bob Hutchinson’s 23andMe gave him a new view of himself, of his family history and even of the world around him.
<div id="attachment_25693" style="width: 243px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-25693" src="https://blog-api.23andme.com/wp-content/uploads/2017/09/dd64ff48-353c-45ec-9144-586d6b79c45f-11-233x300.jpg" alt="" class="size-medium wp-image-25693" width="233" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/09/dd64ff48-353c-45ec-9144-586d6b79c45f-11-233x300.jpg 233w, https://blogcms.23andme.com/wp-content/uploads/2017/09/dd64ff48-353c-45ec-9144-586d6b79c45f-11.jpg 359w" sizes="auto, (max-width: 233px) 100vw, 233px" />Bob Hutchinson&#8217;s parents.</div>
“It was a surprise,” Bob told the<a href="https://www.nytimes.com/2017/08/28/science/dna-tests-ancestry.html?_r=0"> New York Times</a> recently.
His story was featured both in the paper and online in a weekly<a href="https://www.facebook.com/pg/nytimes/videos/?ref=page_internal"> Facebook Live</a> episode called “Conversations on Race.”
Bob grew up in northern New Jersey, thinking his family was white with Swedish and Italian ancestry. But using 23andMe told him something else. His <a href="https://www.23andme.com/dna-ancestry/">Ancestry Composition</a> showed that he is in fact more than an eighth sub-Saharan African.
“I think it’s great, it’s who I am,” Bob said during his live conversation with Times reporter Rachel Swarms. “It’s great to be so mixed.”
The surprised revealed as secret about his family, helping him connect with cousins he didn’t know he had, but who knew who he was, about his family and about the family secret.
Check out his story in the<a href="https://www.nytimes.com/2017/08/28/science/dna-tests-ancestry.html?_r=0"> New York Times</a>, or watch the<a href="https://www.facebook.com/pg/nytimes/videos/?ref=page_internal"> recorded conversation</a>.

DNA Testing Helps Reveal Hidden Family History

For the first time, researchers have identified genetic variants that put some women at a higher risk of having a premature baby — findings that may ultimately help scientists prevent what is the leading cause of childhood mortality worldwide.<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2017/08/Premature-Baby-300x202.jpg" alt="" class="alignright size-medium wp-image-25593" width="300" height="202" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/08/Premature-Baby-300x202.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2017/08/Premature-Baby-768x516.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2017/08/Premature-Baby-1024x688.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2017/08/Premature-Baby-880x591.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2017/08/Premature-Baby-1180x793.jpg 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Published in the <a href="http://www.nejm.org/doi/full/10.1056/NEJMoa1612665">New England Journal of Medicine</a>, the new study was led by researchers at the<a href="https://www.cincinnatichildrens.org/service/h/human-genetics"> Cincinnati Children’s Hospital Medical Center</a> and the March of Dimes Prematurity Research, along with researchers from Norway, Denmark, Finland, and the National Institute of Child Health and Human Development. 
<h6>Genetic Risk Estimates</h6>
Funding was provided by the March of Dimes, the National Institutes of Health, and the Bill and Melinda Gates Foundation. The study relied on data from 23andMe customers who consented to participate in research.
“Previous research has suggested that about 30 to 40 percent of the risk for preterm birth is linked to genetic factors,&#8221; said Louis Muglia, MD, PhD, who coordinated the study and is the co-director of the Perinatal Institute at Cincinnati Children&#8217;s and principal investigator of the March of Dimes Prematurity Research Center.
This new study is the first to provide robust information on some of those genetic factors, Muglia added. 

<h5>Study Size Helped Pinpoint Associations</h5>
The work suggests that integration of genomic information on women, and likely their offspring, with birth timing, can provide new options for preventative and therapeutic measures, according to the researchers.
The scientists of this study found that the genetic variants associated with preterm births are in genes that have a role in uterine development, maternal nutrition, and vascular control. This insight offers important clues into the biology behind what influences premature births and may help in directing research for ways to prevent them. 
The study is also significant because it is the first time scientists have been able to pinpoint specific genetic variants associated with preterm births. Although researchers have long known that genetics plays a role — twin studies suggest that genetics contributes between 30 to 40 percent of the variation in risk for preterm birth — up until now, studies were too small to detect any genetic variants involved in gestation length.
For this study, researchers were able to overcome those limits by working with 23andMe, using aggregated, de-identified data from 45,000 female 23andMe customers who consented to research.
“In the past year, there have been several successful large genome-wide association studies of reproductive behaviors; in that context, I think this study is particularly important because of the immediate clinical relevance of gestational timing,” said David Hinds, Ph.D., 23andMe Principal Scientist, and Statistical Geneticist, who helped to co-author the paper. “This work shows that genetics can improve our understanding of variation in timing.” 
<h5>Study Included A Second Stage for Replication</h5>
The scientists broke their work into two stages — a discovery stage and then a replication stage. All of the data were from women who are of European ancestry.
In the first stage, the researchers used the 23andMe data to conduct a genome-wide association study (GWAS) to identify several loci associated with the timing of birth — some of these were associated with a higher risk of premature births, while a few were associated with a lower risk. After that discovery stage, the researchers then attempted to replicate their findings by running another GWAS using three different cohorts from Finland, Norway, and Denmark.
Those groups included data from about 8,600 women, and it allowed the researchers to replicate all four of the loci found in the discovery stage in the genes EBF1, EEFSEC, AGTR2, and WNT4. Also, the researchers replicated five other loci that had a more modest association.
The researchers believe that increasing the study size may yield even more insights and “further refine our understanding of human pregnancy, the risk for adverse pregnancy outcomes, and targeting of new preventive strategies for preterm birth.”

Genetic Links for Risk of Premature Births

Over the last year or so, we’ve been working hard to update some of our most popular tools here at 23andMe, and sometimes in the<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2017/05/haplogroup-300x300.png" alt="" class="alignright wp-image-25344 size-medium" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/05/haplogroup-300x300.png 300w, https://blogcms.23andme.com/wp-content/uploads/2017/05/haplogroup-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2017/05/haplogroup-271x271.png 271w, https://blogcms.23andme.com/wp-content/uploads/2017/05/haplogroup-372x372.png 372w, https://blogcms.23andme.com/wp-content/uploads/2017/05/haplogroup-574x574.png 574w, https://blogcms.23andme.com/wp-content/uploads/2017/05/haplogroup.png 600w" sizes="auto, (max-width: 300px) 100vw, 300px" /> flurry of all that activity, we make a mistake.
This week one of our customers alerted us to outdated information provided within one of our paternal haplogroup summaries. Although the erroneous reference occurred in just one section of one report, the error has big implications for people with Ashkenazi ancestry.
The reference, which we missed in the editing process, was to a discredited theory about the origins of the Ashkenazi Jewish population. 23andMe corrected the error within 24 hours of being alerted about it. Our mentioning the so-called “Khazar theory” was an unfortunate mistake for which we apologize, and 23andMe does not endorse the theory. In fact, one of our scientists was co-author on one of the <a href="https://www.nature.com/articles/ncomms3928">papers</a> that discredits it.   
 
 
We regularly field questions, concerns, and suggestions from customers. These communications help us make the 23andMe experience the best it can be. Don&#8217;t hesitate to contact our Customer Care if you have questions or concerns of your own.

Haplogroup Report Edit

Last week, 23andMe released two new genetic health risk reports for customers.<img loading="lazy" decoding="async" class="alignright wp-image-25671 size-medium" src="https://blog-api.23andme.com/wp-content/uploads/2017/08/eye.001-300x225.jpg" alt="" width="300" height="225" srcset="https://blogcms.23andme.com/wp-content/uploads/2017/08/eye.001-300x225.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2017/08/eye.001-768x576.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2017/08/eye.001-880x660.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2017/08/eye.001.jpg 1024w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Taken together, 23andMe’s Genetic Health Risk reports remain the only direct-to-consumer genetic health reports authorized by the FDA. They can tell you about genetic variants that may increase your risk of <a href="https://www.23andme.com/dna-health-ancestry/">developing certain serious health conditions</a>, such as late-onset Alzheimer’s disease and Parkinson’s.
The two new reports focus on two other conditions: <a href="https://www.23andme.com/topics/health-predispositions/amd">Age-related macular degeneration</a> (AMD), and <a href="https://www.23andme.com/topics/health-predispositions/hereditary-hemochromatosis/">Hereditary Hemochromatosis</a>. AMD is a leading cause of irreparable vision loss and blindness in older Americans. Hemochromatosis, which is a genetic condition characterized by the absorption of too much dietary iron, can lead to iron overload and which in turn can cause damage to the liver, heart, and pancreas.
These reports look at genetic variants with well-established and meaningful effects on risk.
<h5>Age-related Macular Degeneration</h5>
Our new report on AMD looks at the two most common variants associated with the risk of developing the condition — Y402H and A69S.
There are two kinds of AMD— Dry AMD, which progresses more slowly and is milder, and it accounts for about 90 percent of all cases; and Wet AMD, which is more severe, progresses rapidly and accounts for the remaining cases.
A common symptom as AMD progresses is the development of a blurred area near the center of vision. Over time, the blurred area may grow larger or individuals may develop blank spots in their central vision. In addition objects may be less bright as the condition progresses.
Genetics plays a major role in developing both forms of AMD, although other factors also influence the risk, including diet, smoking, age, ethnicity (this report is most relevant to people of European ancestry) and exposure to sunlight. Lifestyle changes, like eating more leafy green vegetables, wearing sunglasses, and not smoking, can help reduce the risk of AMD.
While there are no treatments that can successfully reverse the damage from AMD, there are treatments that can help slow its progression. Researchers are looking to see if genetics influences the effectiveness of some of these treatments, such as the use of the injectable drug ranibizumab.
<h5>Hereditary Hemochromatosis</h5>
The 23andMe Genetic Health Risk report for Hereditary Hemochromatosis covers the most common forms of the condition caused by variants in the HFE gene. The HFE gene contains instructions for making a protein that helps to regulate the amount of iron absorbed into the body. The two genetic variants used in 23andMe&#8217;s report — C282Y and H63D — cause 91 percent of all HFE-related hereditary hemochromatosis. But, having these two variants doesn’t mean one will develop the condition.
Hemochromatosis tends to develop in older men, and it is most common with men of European ancestry. Women rarely develop the condition. With sometimes-vague symptoms that include fatigue, joint pain, and darkening of the skin, hemochromatosis can be hard to diagnose without genetic testing, such as this. But it is very treatable — often by regular blood draws — and if caught early, lasting damage to the liver, heart or other organs can be prevented.

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