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This article is part of the supplement: Proceedings of the International Symposium on Animal Genomics for Animal Health (AGAH 2010)

Open Access Proceedings

Genome-wide association studies and genetic architecture of common human diseases

Grant W Montgomery

Author Affiliations

Molecular Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Australia

BMC Proceedings 2011, 5(Suppl 4):S16  doi:10.1186/1753-6561-5-S4-S16

Published: 3 June 2011


Genome-wide association scans provide the first successful method to identify genetic variation contributing to risk for common complex disease. Progress in identifying genes associated with melanoma show complex relationships between genes for pigmentation and the development of melanoma. Novel risk loci account for only a small fraction of the genetic variation contributing to this and many other diseases. Large meta-analyses find additional variants, but there is current debate about the contribution of common polymorphisms, rare polymorphisms or mutations to disease risk.