Washington — An international scientific collaboration has produced an analysis of 1,092 human genomes identifying genetic variants that can lead to disease or robust good health.
The National Human Genome Research Institute (NHGRI), part of the U.S. National Institutes of Health, helped fund the consortium of researchers in the United States, Britain, China, Germany and Canada. A NHGRI press release calls the work "the largest, most detailed catalog of human genetic variation." The results were published in the October 31 issue of Nature.
"The 1000 Genomes Project is a large, international effort aiming to characterize human genetic variation, including people from many different populations," said Dr. Eric Green, NHGRI director. "The newly published findings provide deeper insights about the presence and pattern of variants in different people's genomes, which is critical information for studying the genomic basis of human disease."
Researchers will be able to use this data as a reference point when they look for disease in the genomes of particular individuals and compare subjects to the norm for their ethnic groups.
Populations from 14 countries in Europe, the Americas, East Asia and Africa provided genetic material that was the basis of the research.
"We are all walking natural experiments; some of our genes are switched off, some are active, whilst others are overactive," said Professor Gil McVean of Oxford University, the lead author for the study. "Our research has found that each apparently healthy person carries hundreds of rare variants of genes that have a significant impact on how genes work, and a handful of rare changes that have been identified as contributing to disease in other people."
The causes of complex conditions such as cancer, heart disease, multiple sclerosis and diabetes are thought to lie with these variants. Identification of these variants can help future researchers search for treatments and cures.
"The DNA donors in the study were not known to have any diseases, so the study gives us the genomic background we need for understanding which genetic variations are 'within the normal range," said Aravinda Chakravarti, a professor of medicine at the Institute of Genetic Medicine at Johns Hopkins School of Medicine.
The patterns of variants are considerably different, the research finds, in comparing subjects with varying ethnic backgrounds. Groups involved in the project include the Yoruba in Ibadan, Nigeria; the Han Chinese in Beijing; the Japanese in Tokyo; a Utah Mormon community; the Luhya in Kenya; African descendants in the southwest United States; the Toscani in Italy; Mexican descendants in Los Angeles; the Southern Han Chinese; English and Scottish of Britain; the Finnish in Finland; Spanish Iberian populations; the Colombians of Medellin; and Puerto Ricans in Puerto Rico.
More than 100 authors from 111 institutions worldwide contributed to the study, funded by NIH and other international agencies, according to a press release from the Johns Hopkins Medical Institutions.
The first human genome sequence was completed in 2003, a scientific achievement that was compared to the Apollo moon landings in its scope and complexity.