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A Publication of the Coriell Institute for Medical Research, V olume 2, 2005

In the three years since it FirstFirst HapMapHapMap MilestoneMilestone ReachedReached started, the HapMap Project With a big celebration and press people. The samples studied to develop is already proving to be a conference in Salt Lake City, Utah, U.S. this resource were from: powerful resource for in October 2005, the International ◆ Yoruba in Ibadan, Nigeria HapMap Consortium announced the researchers. Around the ◆ Japanese in Tokyo, Japan completion of the basic HapMap. This ◆ Han Chinese in Beijing, China world, scientists believe that resource, which includes a vast amount ◆ CEPH (a Utah, U.S. community this valuable tool will help of data, shows the patterns of genetic with northern and western variation in DNA samples from 270 them to understand how European ancestry). continued genetics contributes to “While many people around the world have human health and diseases contributed to the HapMap Project, we are like cancer, heart disease, especially grateful to those who donated their diabetes and depression, as blood samples. Without their generosity, this well as aid them in finding project could not have been done.” the genes that affect people’s - Dr. Yusuke Nakamura, leader of the HapMap group at RIIKEN and the University of Tokyo in Japan responses to medicines. About the Coriell How to Contact Us Institute We encourage your community, through your Community Advisory Group, to let us know what other types of information you wish to receive. At the Coriell Institute, The Coriell Institute for Medical Dr. Jeanne Beck oversees the Institute’s involvement in the HapMap Project. Dr. Beck Research in Camden, New Jersey is a also coordinates outreach to participating communities and researchers. She can be not-for-profit basic research institute reached at: with an international reputation based on its accomplishments in genetics Dr. Jeanne Beck research and cell banking. Its cell Director, Coriell Cell Repositories repositories contain the world’s largest Coriell Institute for Medical Research cell culture collection for use in 403 Haddon Avenue research, forming a central and Camden, New Jersey 08103, USA irreplaceable resource for the worldwide Telephone: scientific community. 800-752-3805 in the United States 856-757-4822 from other countries Fax: 856-757-9737 Email: [email protected] Website: http://www.coriell.org FirstFirst GeneGene DiscoDiscovverereded UsingUsing thethe HapMapHapMap Even before the first phase of the macular degeneration. But it is an exams. Knowing about the genes relat- HapMap project was finished, the important first step. Based on this new ed to macular degeneration will help HapMap was used to help find genes knowledge, researchers may eventually doctors detect the disease earlier in peo- associated with people’s risk for devel- be able to develop a test to see which ple who already have it, and may some- oping several common conditions. The people have the form of the gene (the day lead to better treatment methods. first major success was the discovery of “variant”) that puts them at higher risk Other discoveries are on the horizon. several genes related to age-related to develop this disease. When people are For example, researchers are already macular degeneration. tested and have this variant, their doctors using the HapMap data to help identify Macular degeneration affects 25-30 can advise them about extra precau- genes associated with type 2 diabetes, million people and is one of the leading tions they should take to decrease their kidney disease, and the way different causes of blindness in people around chances of blindness – like not smok- people respond to some drugs. Future the world. ing, staying out of bright sunlight as issues of HapMap News will report on Of course, finding these genes will much as possible, eating more vegeta- some of the new discoveries that will not provide an immediate cure for bles, and having more frequent eye result from this and related research.

continued from page 1 “While many people around the world ◆ Tuscans in Tuscany, Italy “As samples from more groups are have contributed to the HapMap Project, ◆ People of Mexican origin in Los studied, the HapMap will become an we are especially grateful to those who Angeles, California (U.S.) even more broadly useful and inclusive donated their blood samples. Without ◆ Gujarati (India) in Houston, Texas resource,” said Dr. David Altshuler, leader their generosity, this project could not (U.S.). of the HapMap group at The Broad Institute and Massachusetts General have been done,” said Dr. Yusuke Comparing the patterns of genetic Hospital in Boston, MA (U.S.). While Nakamura, leader of the HapMap group variation in the samples from these each community that donated blood at RIIKEN and the University of Tokyo in groups will help researchers understand samples for the Project is unique, all Japan. how well the basic HapMap, developed participating communities share a Reaching this milestone was just with samples from the first four groups, common feature: they have all made a the first step in developing what will may work to find disease-related genes major, lasting contribution to the future eventually become an even more useful in people who live in or have ancestors health of people everywhere. resource. Starting soon, researchers will from other parts of the world. move into a new phase of the Project which will look at samples from seven additional populations: “As samples from more groups are studied, the ◆ Luhya from Webuye, Kenya, HapMap will become an even more broadly ◆ Maasai from Simba, Kenya useful and inclusive resource.” ◆ People of African ancestry in the southwestern U.S. - Dr. David Altshuler, leader of the HapMap group at The Broad Institute ◆ People from the Denver, Colorado and Massachusetts General Hospital in Boston, MA (U.S.) (U.S.) metropolitan Han Chinese community SpecialSpecial FeaturFeaturee This issue highlights three participating communities. Han Chinese in receiving information about the develop- Amendment of 1965 (which abolished ment of the Project itself and how the national origin quotas and opened immi- Beijing, China samples are being used by the larger gration), and people from Vietnam and The Han Chinese population is the scientific community. the People’s Republic of China who came largest of 56 ethnic groups in China and in the mid and late 1970’s, respectively. the largest single ethnic group in the The samples from the Denver, world. More than 90% of the Chinese Colorado community will be studied in population, and about 19% of the entire Phase 3 of the HapMap Project. Overall, world’s population, self-identify as Han. community members and the CAG were The name “Han” comes from the Han eager to participate in the community Dynasty, which ruled most parts of the engagement and sample collection activi- geographical heartland of China from ties. Many expressed hope that this genet- 202 BC to 220 AD. ic research will contribute to improving The Han Chinese samples collected in health and preventing diseases. Beijing were studied in Phase 1 and 2 of Members also reported that because the HapMap Project. These samples they feel somewhat suspicious and came from members of the residential cautious, they want genetic researchers to community at Beijing Normal University According to members of the Community be respectful and truthful about their (BNU), a large, highly respected educa- Advisory Group at Beijing Normal University research as well as knowledgeable about tional institution with 25 schools and (shown above) residents of this community the wide range of Chinese ethnic and departments, fourteen institutes, a night were honored to contribute samples. cultural diversity, cultural values and school, and continuing education practices without stereotyping individuals programs. The residential community at Denver, Colorado (U.S.) or their community. CAG members are BNU has almost 35,000 people, ranging looking forward to seeing how the sam- from faculty and students to their fami- Metropolitan Area ples collected from their community are lies, university staff, and a wide range of being used in genetic research and look professional and service workers. People Han Chinese forward to their ongoing relationships from many different backgrounds were Denver, Colorado, with a population of with each other and the Coriell Institute. involved in discussions about the approximately 557,000, is home to HapMap Project or donated samples for 100,000 Asian people, of whom about study, including people from 22 out of 31 15,600, or 6.4%, self-identify as Chinese. Chinese provinces, autonomous regions, The Denver, Colorado Metropolitan Area and municipalities. Chinese community is an especially The participants themselves under- heterogeneous community composed of stand that the HapMap Project will bene- people with many diverse emigration, fit the improvement of human health social and cultural experiences. The and medical research at large, and feel people include those whose families honored to have had the opportunity to immigrated to the area in the 1800’s, contribute on behalf of China. Although exchange students studying in Denver in there were some initial questions about the late 1940’s, individuals primarily from the future uses of the samples, and some Taiwan and Hong Kong regions who The celebration of the Dragon Boat Festival is questions about where the samples will came following the passage of the an important annual event for the Chinese be stored and distributed, the CAG enjoys Immigration and Nationality Act community in Denver, Colorado. CEPH (Utah, U.S. residents with northern and western European ancestry) These samples, which were studied for around Salt Lake City, Utah (population Phase 1 and 2 of the HapMap Project, approximately 220,000). Salt Lake City is were collected in 1980 from people in in a mountain valley and is famous for Utah, U.S. whose ancestors mostly came the Great Salt Lake, the largest salt-water from northern and western Europe. The lake in the western hemisphere. Salt name “CEPH” stands for the Centre Lake City is also the headquarters of the d’Etude Polymorphisme Humain, the Church of the Latter Day Saints (also organization that originally collected the called the Mormon Church). samples. The CEPH samples come from Although no formal CAG was estab- large, multigenerational families, and lished for the CEPH donors, most donors have been used in many other important have maintained collaborative and trust- genetic studies. Studying these samples ing relationships with the researchers for the HapMap will enable researchers who collected the samples. The success to build on the extensive information of those long-term relationships, and the The CEPH collectin includes multigenera- about them that is already available. continuing scientific value of the CEPH tional families from Utah, U.S. whose Although some of the CEPH donors samples as a reference collection, was an ancestors came mostly from northern and have died in the 25 years since the example that the HapMap Project sought western Europe. samples were collected, and some have to follow in collecting samples from moved to other places, most of the other donor communities. donors originally lived in an area The next two issues of HapMap News will highlight other participating communities and continue to provide general information about the HapMap Project and its important discoveries.

An electronic version of this issue of HapMap News is available at http://www.coriell.org/ccr/hapmap.html. Additional information of interest can also be found on the website of the International HapMap Project, http://www.hapmap.org. ContinuingContinuing CommunityCommunity InvInvolvolvementement To facilitate ongoing involvement by CAGs are also playing an important websites will be listed in future newslet- members of the HapMap donor commu- role in disseminating information to the ters as they become available. They will nities, a Community Advisory Group broader local communities. Some CAGs also be available from both the Coriell (CAG) has been established at each site use traditional methods of communica- Institute's website (http://www.coriell.org) where samples for the Project were col- tion, such as informally discussing the and the International HapMap Project lected. The Coriell Institute, as custodian Project with others in the community website (http://www.hapmap.org). It is of the stored samples, welcomes sugges- and distributing copies of HapMap News. hoped that this assistance will make it tions from the CAGs about ways to Some CAGs, in places where it is feasi- possible even for people in communities improve the communication of informa- ble, plan to create websites to post rele- with traditionally little access to web tion about the Project and the samples. vant information, such as CAG member- technology to become more actively These suggestions will be useful even ship lists and minutes of CAG meetings. engaged in the research, learn more after the HapMap Project concludes, Publications about the HapMap and about donor communities in other parts because the samples will be used both to related studies, articles about ethical, of the world, and perhaps eventually develop the HapMap and for future legal, and cultural aspects of genetic establish direct communication with genetic variation studies. “Although research, and copies of HapMap News people in other donor communities. these future studies are unlikely to raise may also be posted. According to Dr. Charles Rotimi, leader any new risks dif- of the HapMap ferent from the “We hope, over time, to build an even stronger group at Howard risks raised by the sense of the HapMap Project as a truly global University in HapMap Project Washington, DC itself, the Coriell enterprise among participating communities.” (U.S.), who collect- Institute is com- ed the samples from mitted to keeping - Dr. Charles Rotimi, leader of the HapMap group at Howard University Nigeria and Kenya the communities in Washington, DC (U.S.) along with local fully informed collaborators, “We about all such studies,” said Dr. Jeanne The Coriell Institute will provide hope, over time, to build an even Beck, the director of the Coriell Cell financial assistance to any CAG that stronger sense of the HapMap Project as Repositories. To do this, the Coriell wishes to maintain a website but lacks a truly global enterprise among partici- Institute distributes quarterly reports to sufficient funds to do so. So far, one pating communities.” each CAG, listing all the studies for website has been established which that community’s samples have (http://snp.ims.u-tokyo.ac.jp/CAG/JCAG/ been distributed. JCAG.html.ja) and the URLs for additional

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