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“Hotspots” on Human Genome are Source of Most Diseases

Posted Oct 14 2012 10:08pm
Posted on Oct. 12, 2012, 6 a.m. in Genetics in Disease

Researchers have long known that individual diseases are associated with genes in specific locations of the genome. Genetics researchers at the University of North Carolina School of Medicine (North Carolina, USA0, report that a relatively small number of places in the human genome are associated with a large number and variety of diseases. In particular, several diseases of aging are associated with a locus which is more famous for its role in preventing cancer.  The researchers cataloged results from several hundred human Genome-Wide Association Studies (GWAS) from the National Human Genome Research Institute (NHRGI).  These results provided an unbiased means to determine if varied different diseases mapped to common ‘hotspot’ regions of the human genome. This analysis showed that two different genomic locations are associated with two major subcategories of human disease. The team examined the large NHGRI dataset and first eliminated hereditable traits such as eye or hair color and other non-disease traits like drug metabolism. The group then focused on variants identified from GWAS that contributed to actual diseases.  Combining results from all of these studies, there was enough data to arrive at statistically valid conclusions. The team then mapped the disease associations to the appropriate locations of the genome, counting the number of unique diseases mapping to specific genomic regions, in order to see if disparate diseases mapped randomly throughout the genome, or clustered in hotspots.

Jeck WR, Siebold AP, Sharpless NE. “’Review: a meta-analysis of GWAS and age-associated diseases.”  Aging Cell. 2012 Oct;11(5):727-31.

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