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BMC Proc. 2011 Jun 3;5 Suppl 4:S16. doi: 10.1186/1753-6561-5-S4-S16.

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

Author information

  • 1Molecular Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Australia. Grant.Montgomery@qimr.edu.au.

Abstract

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.

PMID:
21645295
PMCID:
PMC3108210
DOI:
10.1186/1753-6561-5-S4-S16
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