Utah's mark on the HapMap

Most likely, a man in Murray and a woman in Nigeria are not blood relatives. But their DNA is remarkably similar. They share 99.9 percent of their DNA sequences. The remaining .01 percent contains genetic variations that may be the roots of certain diseases, environmental responses and reactions to certain drugs.

University of Utah researchers were among a group of 200 researchers in six countries who analyzed genomes of four ethnic groups Europeans, Chinese, Japanese and the Yoruba of Nigeria. The researchers compiled a partial catalog of human gene variations they believe will potentially lead to\ treatments and prevention measures for diseases such as asthma, cancer, diabetes and obesity, among other health threats.

In addition to Utah researchers playing a key role in the International HapMap Project, genetic material from 90 Utahns was among the samples provided by 269 people worldwide for this human genetic variation research. Genetic variations render people unique individuals, yet they may also explain why certain people have propensities toward various diseases.

The analysis of the variations was reported in Thursday's issue of the science journal Nature. The research was conducted principally by Dr. David Altshuler of the Massachusetts General Hospital and Dr. Peter Donnelly of the University of Oxford in England. U. researchers Mark Leppert, Missy Dixon and Andy Peiffer are co-authors of the journal article.

The HapMap Project builds upon the success of the mapping of human genetic code, which was completed in 2003 and included the labors of genetic researchers in Utah. Four years ago, genetic scientists discovered that the human genome exists in a blocky structure. Geneticists call the blocks haplotypes, hence the project name HapMap. Haplotypes provide a shortcut to finding variant genes, which should speed research into the prevention and treatment of certain diseases and conditions.

The prospects are promising. It is particularly exciting that research of this magnitude is being conducted in Utah, with Utahns as subjects. We look forward to additional advances that enable geneticists to check bad-behaving genes through preventative measures or specifically tailored treatments and cures for diseases and disorders.