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Genes 2014, 5(3), 518-535; doi:10.3390/genes5030518
Review

The Impact of the Human Genome Project on Complex Disease

1,* , 2
 and 1,*
Received: 4 March 2014; in revised form: 3 June 2014 / Accepted: 24 June 2014 / Published: 16 July 2014
(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
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Abstract: In the decade that has passed since the initial release of the Human Genome, numerous advancements in science and technology within and beyond genetics and genomics have been encouraged and enhanced by the availability of this vast and remarkable data resource. Progress in understanding three common, complex diseases: age-related macular degeneration (AMD), Alzheimer’s disease (AD), and multiple sclerosis (MS), are three exemplars of the incredible impact on the elucidation of the genetic architecture of disease. The approaches used in these diseases have been successfully applied to numerous other complex diseases. For example, the heritability of AMD was confirmed upon the release of the first genome-wide association study (GWAS) along with confirmatory reports that supported the findings of that state-of-the art method, thus setting the foundation for future GWAS in other heritable diseases. Following this seminal discovery and applying it to other diseases including AD and MS, the genetic knowledge of AD expanded far beyond the well-known APOE locus and now includes more than 20 loci. MS genetics saw a similar increase beyond the HLA loci and now has more than 100 known risk loci. Ongoing and future efforts will seek to define the remaining heritability of these diseases; the next decade could very well hold the key to attaining this goal.
Keywords: human genome project; age-related macular degeneration; Alzheimer’s disease; multiple sclerosis; genetics; genomics; genome-wide association study human genome project; age-related macular degeneration; Alzheimer’s disease; multiple sclerosis; genetics; genomics; genome-wide association study
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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MDPI and ACS Style

Bailey, J.N.C.; Pericak-Vance, M.A.; Haines, J.L. The Impact of the Human Genome Project on Complex Disease. Genes 2014, 5, 518-535.

AMA Style

Bailey JNC, Pericak-Vance MA, Haines JL. The Impact of the Human Genome Project on Complex Disease. Genes. 2014; 5(3):518-535.

Chicago/Turabian Style

Bailey, Jessica N.C.; Pericak-Vance, Margaret A.; Haines, Jonathan L. 2014. "The Impact of the Human Genome Project on Complex Disease." Genes 5, no. 3: 518-535.


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