Polygenic and Multifactorial Disease Gene Association in Man: Lessons from AIDS

Authors

• Stephen J. O'Brien, National Cancer Institute at FrederickFollow
• George W. Nelson, National Cancer Institute at Frederick
• Cheryl Winkler, National Cancer Institute at Frederick
• Michael W. Smith, National Cancer Institute at Frederick

ORCID

0000-0001-7353-8301

ResearcherID

N-1726-2015

Document Type

Article

Publication Title

Annual Review of Genetics

ISSN

0066-4197

Publication Date

2000

Keywords

AIDS, SNP, Restriction gene, Complex traits

Abstract

In an age when the majority of monogenic human disease genes have been identified, a particular challenge for the coming generation of human geneticists will be resolving complex polygenic and multifactorial diseases. The tools of molecular and population genetic association have much potential as well as peril in uncovering small cryptic genetic effects in disease. We have used a candidate gene approach to identify eight distinct human loci with alleles that in different ways influence the outcome of exposure to HIV-1, the AIDS virus. The successes in these gene hunts have validated the approach and illustrate the strengths and limitations of association analysis in an actual case history. The integration of genetic associations, well-described clinical cohorts, extensive basic research on AIDS pathogenesis, and functional interpretation of gene connections to disease offers a formula for detecting such genes in complex human genetic phenotypes.

Volume

34

First Page

563

Last Page

591

Comments

©2000 Annual Reviews

NSUWorks Citation

O'Brien, Stephen J.; George W. Nelson; Cheryl Winkler; and Michael W. Smith. 2000. "Polygenic and Multifactorial Disease Gene Association in Man: Lessons from AIDS." Annual Review of Genetics 34, (): 563-591. https://nsuworks.nova.edu/cnso_bio_facarticles/621