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Understanding Non-Mendelian Genetic Risk.

Gerhard A Coetzee1

  • 1Center for Neurodegenerative Science, Van Andel Institute, Grand Rapids, MI, USA.

Current Genomics
|June 2, 2020
PubMed
Summary

Genome-wide association studies reveal non-Mendelian genetic risk in complex diseases, primarily in regulatory DNA. This paper proposes strategies to identify functional single nucleotide polymorphisms (SNPs) and link enhancers to their target genes for better understanding.

Keywords:
GWAS functionalitySNPchromatingenesgenomicsnon-mendelian genetic risk

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Area of Science:

  • Genetics
  • Genomics
  • Molecular Biology

Background:

  • Genome-wide association studies (GWAS) have identified numerous genetic loci associated with complex diseases.
  • A significant portion of this genetic risk is attributed to non-coding regulatory DNA, particularly enhancers.
  • Understanding the functional impact of these non-coding variants remains a challenge.

Purpose of the Study:

  • To propose and outline strategies for identifying functional single nucleotide polymorphisms (SNPs).
  • To establish methods for linking genetic risk variants in enhancers to their target genes.
  • To advance the understanding of non-Mendelian genetic risk in complex phenotypes.

Main Methods:

  • Fine-mapping SNPs within chromatin bio-features (e.g., enhancers) in relevant cell types.
  • Integrating data from expression quantitative trait loci (eQTLs) and differential DNA methylation.
  • Utilizing genomic editing (CRISPR/cas9) and chromatin conformation capture (3C) to identify gene-regulatory relationships.

Main Results:

  • Strategies focus on pinpointing SNPs that alter regulatory elements.
  • Methods aim to connect distal regulatory elements (enhancers) with their target genes.
  • Integration of multiple functional genomics approaches is key to deciphering complex genetic architectures.

Conclusions:

  • The proposed strategies offer a framework for dissecting the functional basis of non-Mendelian genetic risk.
  • Identifying causal variants and their target genes is crucial for a comprehensive understanding of complex disease genetics.
  • These approaches will facilitate the translation of GWAS findings into biological insights and potential therapeutic targets.