PGP:Association Studies

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Linking genotype to phenotype whether it be traits, diseases or environmental factors is a challenge in any large association studies. There are multiple reviews on this topic [1, 2, 3, 4]. Whatever its limitation may be, it can provide a valuable epidemiological point of view of human genetics. Many associations may not be causative, but they can serve as markers for preventive interventions for common medical disorders and unhealthy lifestyles. As the field moves from using high density arrays to full and targeted genome sequencing of a very large human population, we will be able to address even rare mutations and variants and get even more association data.

With multitudes of both full-scale sequencing and functional genomics data, PGP will attempt to link human traits (both normal and abnormal) to a particular genetic loci using various association techniques. As we collect more volunteers (currently, there are up to 10,000 volunteers waiting), we will start exhaustive cataloging of normal human traits. While focusing on disease cohorts may yield quicker results, we believe that normal genetic determinants of human physiology like play an important role in human diseases in different environments.





  1. Kruglyak L. The road to genome-wide association studies. Nat Rev Genet. 2008 Apr;9(4):314-8. DOI:10.1038/nrg2316 | PubMed ID:18283274 | HubMed [Kruglyak2008]
  2. Couzin J and Kaiser J. Genome-wide association. Closing the net on common disease genes. Science. 2007 May 11;316(5826):820-2. DOI:10.1126/science.316.5826.820 | PubMed ID:17495150 | HubMed [Couzin2007]
  3. Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature. 2007 Jun 7;447(7145):661-78. DOI:10.1038/nature05911 | PubMed ID:17554300 | HubMed [GWAS2007]
  4. Cheung VG, Spielman RS, Ewens KG, Weber TM, Morley M, and Burdick JT. Mapping determinants of human gene expression by regional and genome-wide association. Nature. 2005 Oct 27;437(7063):1365-9. DOI:10.1038/nature04244 | PubMed ID:16251966 | HubMed [Cheung2005]
All Medline abstracts: PubMed | HubMed