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Human Molecular Genetics Advance Access originally published online on February 5, 2004
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Human Molecular Genetics, 2004, Vol. 13, Review Issue 1 R9-R19
DOI: 10.1093/hmg/ddh075

Patterns of ethnic diversity among the genes that influence AIDS

Cheryl Winkler1, Ping An1 and Stephen J. O'Brien2,*

1Basic Research Program, SAIC-Frederick, Inc., NCI-Frederick, Frederick, MD 21702, USA and 2Laboratory of Genomic Diversity, NCI-Frederick, Frederick, MD 21702, USA

Although HIV-1/AIDS emerged late in the last century, more than 42 million individuals have been infected and 25 million have died worldwide, making AIDS, like malaria, a strong selective force for disease-associated genetic factors. Many of the genes that mediate immune response or that are co-opted by HIV-1 for completion of its lifecycle show differences in allele frequencies, as a result of drift, migration or selection. Here we show that the majority of AIDS candidate genes and AIDS restriction genes show significant differences in allele frequencies, possibly the result of historic selective pressures. These genes are undergoing present day natural selection in populations with high AIDS prevalence.

* To whom correspondence should be addressed at: Laboratory of Genomic Diversity, National Cancer Institute, Building 560, Room 21-105, Frederick, MD 21702-1201, USA. Email: obrien{at}ncifcrf.gov


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