Current best practices and rationalistic perspectives in causation-based prevention, early detection and multidisciplinary treatment of breast and gastric cancer

Gastric & Breast Cancer e-journal
DOI: 10.2122/gbc.2011.0169


Atlantis Mystery and Missing Heritability

Ioannis Georgiou, PhD

Affiliation: (IG), from the Laboratory of Human Reproductive Genetics, Department of Obstetrics and Gynaecology , Medical School, University of Ioannina, GR 451 10 Ioannina, Greece.

Microchips with up to 1 million SNPs have allowed over the last three years genome-wide association studies (GWAS) to identify unbiased unprecedented wealth of novel genes and variants associated with traits and diseases. Despite the overenthusiasm to link phenotypes with SNPs the full story of heritability remains a mystery; only 20-25% of traits or diseases can be explained by GWAS revealed a recent meta-analysis. Whether this "missing heritability" will remain a mystery or myth as Atlantis, a legendary island described in Plato's dialogues Timaeus and Critias, is unknown.

Here, I discuss the advances with GWAS, the limitations in translating SNPs into medical prevention and treatment of diseases and the challenges and expectations with the new generation GWAS using 5 million SNPs and copy-number-variants (CNVs) platforms to explain missing heritability and health improvement.

(Citation: Gastric & Breast Cancer 2011; 10(3): 139-145)

This article is 7 pages long, and includes 2 tables.

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Online ISSN : 1109 - 7647
   Print ISSN : 1109 - 7655

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last update: 28 June 2011