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Contribution of rare and common variants determine complex diseases—Hirschsprung disease as a model
- Source :
- Developmental Biology, 382(1), 320-329. Elsevier Inc., Developmental Biology, 382(1), 320-329. ACADEMIC PRESS INC ELSEVIER SCIENCE
- Publication Year :
- 2013
- Publisher :
- Elsevier BV, 2013.
-
Abstract
- Finding genes for complex diseases has been the goal of many genetic studies. Most of these studies have been successful by searching for genes and mutations in rare familial cases, by screening candidate genes and by performing genome wide association studies. However, only a small fraction of the total genetic risk for these complex genetic diseases can be explained by the identified mutations and associated genetic loci. In this review we focus on Hirschsprung disease (HSCR) as an example of a complex genetic disorder. We describe the genes identified in this congenital malformation and postulate that both common 'low penetrant' variants in combination with rare or private 'high penetrant' variants determine the risk on HSCR, and likely, on other complex diseases. We also discuss how new technological advances can be used to gain further insights in the genetic background of complex diseases. Finally, we outline a few steps to develop functional assays in order to determine the involvement of these variants in disease development. (C) 2013 Elsevier Inc. All rights reserved.
- Subjects :
- Candidate gene
Hirschsprung disease
Systems biology
Genome-wide association study
RECEPTOR TYROSINE KINASE
Disease
Biology
Models, Biological
DNA sequencing
ENTERIC NERVOUS-SYSTEM
CENTRAL HYPOVENTILATION SYNDROME
Next generation sequencing
RET PROTOONCOGENE
medicine
Animals
Humans
GWAS
Genetic Predisposition to Disease
GENOME-WIDE ASSOCIATION
Molecular Biology
Gene
Genetic Association Studies
Functional assays
Genetics
SMAD-INTERACTING PROTEIN-1
NEURAL CREST
SHAH-WAARDENBURG SYNDROME
MULTIGENIC INHERITANCE
Genetic disorder
Genetic Variation
Rare variants
Cell Biology
medicine.disease
ENDOTHELIN-3 GENE
Developmental Biology
Common disease-common variant
Subjects
Details
- ISSN :
- 00121606
- Volume :
- 382
- Database :
- OpenAIRE
- Journal :
- Developmental Biology
- Accession number :
- edsair.doi.dedup.....8eab355601fda46d898d9842641407c6