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Originally published as Genetics Published Articles Ahead of Print on May 15, 2006.
Genetics, Vol. 174, 491-497, September 2006, Copyright © 2006
doi:10.1534/genetics.105.052225
Fine-Scale Map of Encyclopedia of DNA Elements Regions in the Korean Population
Yeon-Kyeong Yoo*,1,
Xiayi Ke
,1,
Sungwoo Hong
,
Hye-Yoon Jang*,
Kyunghee Park,
Sook Kim*,
TaeJin Ahn,
Yeun-Du Lee*,
Okryeol Song,
Na-Young Rho*,
Moon Sue Lee,
Yeon-Su Lee,
Jaeheup Kim,
Young J. Kim
,
Jun-Mo Yang**,
Kyuyoung Song,
Kyuchan Kimm,
Bruce Weir,
Lon R. Cardon,
Jong-Eun Lee* and
Jung-Joo Hwang,***,2
* DNA Link, Seoul, 120-110, Korea, Bio Lab, *** Future Technology Group, Samsung Advanced Institute of Technology, Yongin-si, Gyeonggi-do 449-901, Korea, Wellcome Trust Center for Human Genetics, University of Oxford, Oxford OX3 7BN, United Kingdom, National Genome Information Center, Korea Research Institute of Bioscience and Biotechnology, Daejeon-si, 305-333, Korea, ** Department of Dermatology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, 135-230, Korea, Department of Biochemistry and Molecular Biology, University of Ulsan College of Medicine, Seoul, 138-736, Korea, National Genome Research Institute, Korean National Institute of Health, Seoul 122-701, Korea and Department of Biostatistics, University of Washington, Seattle, Washington 98195-7232
2 Corresponding author: Bio Lab, Future Technology Group, Samsung Advanced Institute of Technology, Mt. 14, Nongseo-ri, Giheung-eup, Yongin-si, Gyeonggi-do, 449-901, Korea.
E-mail: jungjoo.hwang{at}samsung.com
The International HapMap Project aims to generate detailed human genome variation maps by densely genotyping single-nucleotide polymorphisms (SNPs) in CEPH, Chinese, Japanese, and Yoruba samples. This will undoubtedly become an important facility for genetic studies of diseases and complex traits in the four populations. To address how the genetic information contained in such variation maps is transferable to other populations, the Korean government, industries, and academics have launched the Korean HapMap project to genotype high-density Encyclopedia of DNA Elements (ENCODE) regions in 90 Korean individuals. Here we show that the LD pattern, block structure, haplotype diversity, and recombination rate are highly concordant between Korean and the two HapMap Asian samples, particularly Japanese. The availability of information from both Chinese and Japanese samples helps to predict more accurately the possible performance of HapMap markers in Korean disease-gene studies. Tagging SNPs selected from the two HapMap Asian maps, especially the Japanese map, were shown to be very effective for Korean samples. These results demonstrate that the HapMap variation maps are robust in related populations and will serve as an important resource for the studies of the Korean population in particular.