Common diseases have a multifactorial etiology and understanding their causation will have a major impact on public health. However, the enormous diversity within complex traits, not only in their environmental determinants but also in their genetic components of risk, means specific genetic variants causally associated with common diseases will have small effects, and their identification so far has been an uphill struggle. Emerging technologies are now allowing researchers to study hundreds of thousands of genetic variants as risk factors for common complex diseases, with promising and exciting results. However, there are a number of challenges, including optimal study designs, population stratification, multiple testing, environment and gene interactions, and the effect of epigenetics and structural chromosomal variations.
Padmanabhan, S., Menni, C., Prabhakaran, D., Dominiczak, A. (2009). Discovering the genetic determinants of complex diseases. CURRENT SCIENCE, 97(3), 385-391.
Discovering the genetic determinants of complex diseases
MENNI, CRISTINA;
2009
Abstract
Common diseases have a multifactorial etiology and understanding their causation will have a major impact on public health. However, the enormous diversity within complex traits, not only in their environmental determinants but also in their genetic components of risk, means specific genetic variants causally associated with common diseases will have small effects, and their identification so far has been an uphill struggle. Emerging technologies are now allowing researchers to study hundreds of thousands of genetic variants as risk factors for common complex diseases, with promising and exciting results. However, there are a number of challenges, including optimal study designs, population stratification, multiple testing, environment and gene interactions, and the effect of epigenetics and structural chromosomal variations.
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