Pleiotropy, the phenomenon in genetics whereby one genetic locus affects multiple phenotypes, is widespread in the human genome. Pleiotropy not only can help explain the observations of shared heritability and comorbidity between many complex traits, but can also shed light on the underlying causal mechanisms of the biological processes that lead to the manifestation of those traits. Associations between genotypes and single phenotype have been thoroughly explored. However, only focusing on the effects of genetic variants on a single disease may be inadequate, since specific genetic variants may show strong associations with multiple traits but in opposite directions. Pleiotropy has important implications for genomic medicine, particularly as we move into the era of personalized medicine.
Identification of pleiotropic effects is important and necessary for better understanding of the underlying biological mechanism that may not be fully explained by the genetic variants–single disease associations. However, progress in identification and understanding of the genetic pleiotropy is still limited. Systematic detection of pleiotropic effects is challenging and requires new methodologies and frameworks for interpreting cross-traits results. We expect these studies to deliver new and unexpected discoveries on genome–phenome associations, including plausible causal trait relationships.
This Research Topic welcomes original research papers, reviews, methods and data reports, including, but are not limited to:
• Novel methodology development
• New software supporting the methodologies
• Identification of novel pleiotropic genes for human complex diseases
• Implications of pleiotropy for genomic medicine
• The molecular mechanisms of pleiotropy
Pleiotropy, the phenomenon in genetics whereby one genetic locus affects multiple phenotypes, is widespread in the human genome. Pleiotropy not only can help explain the observations of shared heritability and comorbidity between many complex traits, but can also shed light on the underlying causal mechanisms of the biological processes that lead to the manifestation of those traits. Associations between genotypes and single phenotype have been thoroughly explored. However, only focusing on the effects of genetic variants on a single disease may be inadequate, since specific genetic variants may show strong associations with multiple traits but in opposite directions. Pleiotropy has important implications for genomic medicine, particularly as we move into the era of personalized medicine.
Identification of pleiotropic effects is important and necessary for better understanding of the underlying biological mechanism that may not be fully explained by the genetic variants–single disease associations. However, progress in identification and understanding of the genetic pleiotropy is still limited. Systematic detection of pleiotropic effects is challenging and requires new methodologies and frameworks for interpreting cross-traits results. We expect these studies to deliver new and unexpected discoveries on genome–phenome associations, including plausible causal trait relationships.
This Research Topic welcomes original research papers, reviews, methods and data reports, including, but are not limited to:
• Novel methodology development
• New software supporting the methodologies
• Identification of novel pleiotropic genes for human complex diseases
• Implications of pleiotropy for genomic medicine
• The molecular mechanisms of pleiotropy
