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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Published on: June 21, 2018

The Brisbane Systems Genetics Study: genetical genomics meets complex trait genetics.

Joseph E Powell1, Anjali K Henders, Allan F McRae

  • 1University of Queensland Diamantina Institute, University of Queensland, Princess Alexandra Hospital, Brisbane, Queensland, Australia. joseph.powell@uq.edu.au

Plos One
|May 8, 2012
PubMed
Summary

The Brisbane Systems Genetics Study identified over 2,000 genetic factors influencing gene expression. This research advances understanding of gene regulation

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Area of Science:

  • Genetics
  • Systems Genetics
  • Genomics

Background:

  • Complex diseases are increasingly linked to hereditary changes in gene regulation.
  • Understanding the molecular genetic basis of gene expression is crucial for disease research.
  • The Brisbane Systems Genetics Study (BSGS) was established to address these knowledge gaps.

Purpose of the Study:

  • To identify genetic factors that influence gene expression.
  • To investigate the role of gene regulation in mediating complex diseases and endophenotypes.
  • To leverage a family-based cohort for disentangling genetic and environmental effects on gene expression.

Main Methods:

  • Utilized high-density genotype, gene expression, and phenotypic data from 962 individuals across 314 families.
  • Employed an expression quantitative trait loci (eQTL) analysis on 862 individuals, correlating 17,926 probes with 528,509 SNP genotypes.
  • Included multi-generational families (including parents) to improve power in estimating genetic and environmental influences and parent-of-origin effects.

Main Results:

  • Identified approximately 15,000 significant associations between gene expression levels and SNP genotypes.
  • Discovered a total of 2,081 expression quantitative trait loci (eQTLs) involving 1,503 probes.
  • Found that the majority (87%) of identified eQTLs were located in cis-regions, indicating local genetic control of gene expression.

Conclusions:

  • The BSGS provides a valuable resource for systems genetics research.
  • Significant genetic control over gene expression has been demonstrated, with most eQTLs acting locally.
  • Findings contribute to understanding the genetic architecture of gene regulation and its implications for complex diseases.