LEE LAB HARVARD UNIVERSITY

CHARLES LEE Charles Lee of HMS and Brigham and Women's Hospital is one of the principal investigators in an international consortium that is creating a new map of human genetic diversity. (Staff photo Stephanie Mitchell/Harvard News Office)





During the two-year project, Lee and colleagues employed the
latest genome-scanning technologies to examine DNA samples
from 270 participants, who were a part of the International HapMap
Project, for these CNVs. Previous research only looked at single
base pair changes among this study group.
285 of the approximately 3,000 CNVs are already known to be
associated with disease, and copy number variations of some of
these genes have been or are now being speculated as risk
factors for ailments such as AIDS, inflammatory bowel disease, lupus, cataracts, arterial disease and
schizophrenia.One interesting observation that the researchers made during this study was that many of the CNVs have
population-specific characteristics and frequencies, which could explain increased prevalence of some diseases in
certain populations. For example, previous research found that the deletion of the UGT2B17 gene may lead to an
increased risk of prostate cancer in African American men. As a result of this and other research, the consortium is
expanding their studies to thousands of healthy individuals from populations outside of the HapMap collection.