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When examined closely, the division between monogenic and complex traits quickly breaks down.
This type of situation may occupy the middle ground between monogenic and complex disorders.
Determination of the genotype of a single locus is usually not sufficient to predict a clinical phenotype in human disorders considered to be inherited in simple Mendelian patterns, assuming no clear distinction between monogenic and complex traits or involvement of other molecular mechanisms.
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This notwithstanding, the action of modifier genes is one of the mechanisms responsible for reduced penetrance, and one that has increasingly become recognized as blurring the distinction between monogenic conditions and complex disease (Nadeau 2003; Badano and Katsanis 2003; Sidransky 2006).
Daetwyler, H. D. et al. Whole-genome sequencing of 234 bulls facilitates mapping of monogenic and complex traits in cattle.
There is increasing evidence supporting the role of rare variants in both monogenic and complex diseases [1] [6].
Disease-association studies, both candidate gene-based and genome-wide association studies (GWAS), have identified genetic variants that associate with both monogenic and complex diseases like lung cancer.
They have also been linked to some monogenic and complex human diseases [ 3, 4].
Our findings provide an example of the overlap in genetic determinants of monogenic and complex obesity.
Different combinations of such variants may contribute to the variable penetrance characteristic of both monogenic and complex disease.
Related questions are also likely to arise in basic research projects on both monogenic and complex (i.e. oliogenetic) diseases.
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CEO of Professional Science Editing for Scientists @ prosciediting.com