Korean Genome Project Finds Korea-Only SNPs

By Allison Proffitt 

September 13, 2011 | Yesterday, the Korean Personal Genome Project announced the release of 20 full Korean genomes, the KPGP-20. The genomes revealed 60,000 SNPs that seem unique to Koreans.   

The work was jointly presented by the Genome Research Foundation (GRF) a Korean nonprofit, private foundation; Korea Telecom (KT); and Theragen Etex, a Korean research and development company looking at biologics and small molecules.  

The 20 subjects were geographically distributed and chosen randomly from 1850 applicants. They are all seemingly healthy Koreans, who agreed to release their genomic, clinical, and personal information for research, Jong Bhak, director of research at GRF, told Bio-IT World.  

GRF’s overarching goal is to sequence all of the Koreans on earth, about 50 million, Bhak explains. The Korean Personal Genome Project is one GRF’s efforts and follows the philosophy and protocol of George Church’s Personal Genome Project (see, “Church Inquiry Gets Personal,” March 2006).  

The KGPG-20 work was partially funded by a $500,000 grant from Korea Telecom for whole genome sequencing on Illumina HiSeq2000s. “KT became involved to get experience in running a cloud facility for genome analysis,” says Bhak. “[GRF] ran our pipelines on their cloud system. They have established primary analysis system on their site. It was a joint effort.”   

GRF researchers found about 8.7 million SNPs in the 20 samples, with 1.8 million being new mutations. “About 60,000 among [the] newly discovered SNPs seem common only for Koreans compared with other known genomes,” said Teahyung Kim, a senior researcher of Theragen Etex in the press release. Researchers found 22 coding genes that contained Korean-specific mutations from the majority of the samples.  

Six of the 20 volunteers had common mutations related to proteins associated with capsaicin, the spicy component in chili peppers, which feature heavily in Korean cuisine. The researchers speculate that a preference for spicy food may have a genetic basis. Bhak says that a paper further investigating the connection is in progress. Other interesting findings include what seems to be a Korean-specific genetic mutation in olfactory receptors, which may also have bearing on Korea’s food culture.  

Reserachers hope that the data will help build a better understanding of Korean ethnic characteristics and will eventually enable better diagnose and personalized medicine.  

The project data is freely available under BioLicense at the KPGP website: http://opengenome.net.