Abstract
Common human pathologies have a complicated etiology involving both genetic and environmental risk factors. Moreover, the genetic basis of these disorders is also complex, with multiple and weak genetic variants contributing to disease susceptibility. In addition, most of these risk genetic variants occur outside genes, within the vast non-coding human genomic space. In this review I first illustrate how large-scale genomic studies aimed at mapping cis-regulatory elements in the human genome are facilitating the identification of disease-causative non-coding genetic variation. I then discuss some of the challenges that remain to be solved before the pathological consequences of non-coding genetic variation can be fully appreciated. Ultimately, revealing the genetics of human complex disease can be a critical step towards more personalized and effective diagnosis and treatments.
Acknowledgments
Alvaro Rada-Iglesias is funded through intramural funding from the Center for Molecular Medicine Cologne (CMMC), DFG research grant RA 2547/1-1, UoC Advanced Researcher Group Grant and Fritz Thyssen Stiftung grant 10.14.1.205.
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©2014 by De Gruyter
Articles in the same Issue
- Frontmatter
- Guest Editorial
- Highlight: Membrane transport on the move
- HIGHLIGHT: 9TH TRANSPORT COLLOQUIUM
- Small membrane proteins – elucidating the function of the needle in the haystack
- When two turn into one: evolution of membrane transporters from half modules
- Central role of the Na+-translocating NADH:quinone oxidoreductase (Na+-NQR) in sodium bioenergetics of Vibrio cholerae
- Principles and mechanisms of CD95 activation
- Stitching proteins into membranes, not sew simple
- Cell-free expression of G-protein coupled receptors: new pipelines for challenging targets
- Voltage-dependent anion channels: the wizard of the mitochondrial outer membrane
- Structural characterization of a C-terminally truncated E5 oncoprotein from papillomavirus in lipid bilayers
- Minireview
- Genetic variation within transcriptional regulatory elements and its implications for human disease
- Research Articles/Short Communications
- Molecular Medicine
- Methotrexate-gelonin conjugate – an inhibitor of MCF-7 cells expressing the dihydrofolate receptor
Articles in the same Issue
- Frontmatter
- Guest Editorial
- Highlight: Membrane transport on the move
- HIGHLIGHT: 9TH TRANSPORT COLLOQUIUM
- Small membrane proteins – elucidating the function of the needle in the haystack
- When two turn into one: evolution of membrane transporters from half modules
- Central role of the Na+-translocating NADH:quinone oxidoreductase (Na+-NQR) in sodium bioenergetics of Vibrio cholerae
- Principles and mechanisms of CD95 activation
- Stitching proteins into membranes, not sew simple
- Cell-free expression of G-protein coupled receptors: new pipelines for challenging targets
- Voltage-dependent anion channels: the wizard of the mitochondrial outer membrane
- Structural characterization of a C-terminally truncated E5 oncoprotein from papillomavirus in lipid bilayers
- Minireview
- Genetic variation within transcriptional regulatory elements and its implications for human disease
- Research Articles/Short Communications
- Molecular Medicine
- Methotrexate-gelonin conjugate – an inhibitor of MCF-7 cells expressing the dihydrofolate receptor