The missing story behind Genome Wide Association Studies: single nucleotide polymorphisms in gene deserts have a story to tell

被引:31
|
作者
Schierding, William [1 ]
Cutfield, Wayne S. [1 ,2 ]
O'Sullivan, Justin M. [1 ,2 ]
机构
[1] Univ Auckland, Liggins Inst, Auckland 1, New Zealand
[2] Gravida Natl Ctr Growth & Dev, Auckland, New Zealand
关键词
PROSTATE-CANCER; SPATIAL PROXIMITY; CHROMATIN; EXPRESSION; LOCUS; TRANSCRIPTION; DATABASE; VARIANTS; TRANSLOCATIONS; ORGANIZATION;
D O I
10.3389/fgene.2014.00039
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Genome wide association studies are central to the evolution of personalized medicine. However, the propensity for single nucleotide polymorphisms (SNPs) to fall outside of genes means that understanding how these polymorphisms alter cellular function requires an expanded view of human genetics. Integrating the study of genome structure (chromosome conformation capture) into its function opens up new avenues of exploration. Changes in the epigenome associated with SNPs in gene deserts will allow us to define complex diseases in a much clearer manner, and usher in a new era of disease pathway exploration.
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页数:7
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