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Decoding the role of regulatory element polymorphisms in complex disease.

Publication ,  Journal Article
Vockley, CM; Barrera, A; Reddy, TE
Published in: Curr Opin Genet Dev
April 2017

Genetic variation in gene regulatory elements contributes to diverse human diseases, ranging from rare and severe developmental defects to common and complex diseases such as obesity and diabetes. Early examples of regulatory mechanisms of human diseases involve large chromosomal rearrangements that change the regulatory connections within the genome. Single nucleotide variants in regulatory elements can also contribute to disease, potentially via demonstrated associations with changes in transcription factor binding, enhancer activity, post-translational histone modifications, long-range enhancer-promoter interactions, or RNA polymerase recruitment. Establishing causality between non-coding genetic variants, gene regulation, and disease has recently become more feasible with advances in genome-editing and epigenome-editing technologies. As establishing causal regulatory mechanisms of diseases becomes routine, functional annotation of target genes is likely to emerge as a major bottleneck for translation into patient benefits. In this review, we discuss the history and recent advances in understanding the regulatory mechanisms of human disease, and new challenges likely to be encountered once establishing those mechanisms becomes rote.

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Published In

Curr Opin Genet Dev

DOI

EISSN

1879-0380

Publication Date

April 2017

Volume

43

Start / End Page

38 / 45

Location

England

Related Subject Headings

  • Regulatory Sequences, Nucleic Acid
  • Promoter Regions, Genetic
  • Polymorphism, Genetic
  • Humans
  • Genome, Human
  • Genetic Predisposition to Disease
  • Gene Expression Regulation
  • Enhancer Elements, Genetic
  • Developmental Biology
  • DNA-Directed RNA Polymerases
 

Citation

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Vockley, C. M., Barrera, A., & Reddy, T. E. (2017). Decoding the role of regulatory element polymorphisms in complex disease. Curr Opin Genet Dev, 43, 38–45. https://doi.org/10.1016/j.gde.2016.10.007
Vockley, Christopher M., Alejandro Barrera, and Timothy E. Reddy. “Decoding the role of regulatory element polymorphisms in complex disease.Curr Opin Genet Dev 43 (April 2017): 38–45. https://doi.org/10.1016/j.gde.2016.10.007.
Vockley CM, Barrera A, Reddy TE. Decoding the role of regulatory element polymorphisms in complex disease. Curr Opin Genet Dev. 2017 Apr;43:38–45.
Vockley, Christopher M., et al. “Decoding the role of regulatory element polymorphisms in complex disease.Curr Opin Genet Dev, vol. 43, Apr. 2017, pp. 38–45. Pubmed, doi:10.1016/j.gde.2016.10.007.
Vockley CM, Barrera A, Reddy TE. Decoding the role of regulatory element polymorphisms in complex disease. Curr Opin Genet Dev. 2017 Apr;43:38–45.
Journal cover image

Published In

Curr Opin Genet Dev

DOI

EISSN

1879-0380

Publication Date

April 2017

Volume

43

Start / End Page

38 / 45

Location

England

Related Subject Headings

  • Regulatory Sequences, Nucleic Acid
  • Promoter Regions, Genetic
  • Polymorphism, Genetic
  • Humans
  • Genome, Human
  • Genetic Predisposition to Disease
  • Gene Expression Regulation
  • Enhancer Elements, Genetic
  • Developmental Biology
  • DNA-Directed RNA Polymerases