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Mapping common regulatory variants to human haplotypes.

Tomi Pastinen1, Bing Ge, Scott Gurd

  • 1McGill University and Genome Quebec Innovation Center, Montreal, Quebec, Canada.

Human Molecular Genetics
|November 23, 2005
PubMed
Summary
This summary is machine-generated.

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Genetic variants influence gene expression, with cis-acting elements playing a key role. This study systematically mapped common cis-acting variants in 64 genes, identifying numerous loci affecting gene expression levels and allelic ratios.

Area of Science:

  • Genetics
  • Molecular Biology
  • Bioinformatics

Background:

  • Inter-individual differences in gene expression are partly due to genetic factors, including cis-acting elements.
  • Identifying the specific genetic causes of cis-acting regulatory variation across many genes remains a challenge.

Purpose of the Study:

  • To systematically map common cis-acting genetic variants in a set of 64 genes.
  • To identify genetic variants that influence total gene expression and allelic expression ratios.

Main Methods:

  • Utilized association methods with HapMap samples to analyze genetic variation.
  • Examined 64 genes for common cis-acting variants affecting gene expression.

Main Results:

  • Identified 16 loci (25%) with common haplotypes impacting total gene expression.

Related Experiment Videos

  • Found an additional 17 loci (27%) with haplotypes affecting relative allelic expression in heterozygotes.

    • Conclusions:

    • A significant proportion of tested genes harbor common cis-acting variants that influence gene expression.
    • Detailed mapping of allele-specific expression provides a valuable resource for identifying regulatory single nucleotide polymorphisms (SNPs) and haplotypes for phenotype association studies.