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

BMC Proceedings

Proceedings

Grant W Montgomery¹ 

[1] Molecular Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Australia;

关键词: Melanoma;    Rare Variant;    Causal Variant;    Additive Genetic Effect;    Melanoma Risk;   

DOI  :  10.1186/1753-6561-5-S4-S16

来源: Springer

【 摘 要 】

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.

【 授权许可】

CC BY   
© Montgomery; licensee BioMed Central Ltd. 2011