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Related Experiment Video

Updated: Jun 20, 2026

Monochrome Multiplex Quantitative PCR Telomere Length Measurement

Monochrome Multiplex Quantitative PCR Telomere Length Measurement

Published on: March 22, 2024

eQTL analysis in humans.

Lude Franke¹, Ritsert C Jansen

¹Groningen Bioinformatics Center, Groningen Biomolecular Sciences and Biotechnology Institute, University of Groningen, Haren, The Netherlands.

Methods in Molecular Biology (Clifton, N.J.)

|September 19, 2009

Summary

This summary is machine-generated.

This study links genetic variations to gene expression levels in humans. Identifying expression quantitative trait loci (eQTLs) helps understand disease susceptibility and biological pathways.

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Area of Science:

Genetics
Genomics
Human Health

Background:

Human health research must account for individual genetic and environmental variations influencing disease susceptibility.
Genotyping technologies have evolved from pedigree analysis to large-scale population studies for complex diseases.
Understanding the downstream effects of genetic variants on gene and protein expression is crucial.

Purpose of the Study:

To investigate high-throughput, genome-wide gene expression measurement in a natural human population.
To associate variations in gene expression with DNA sequence variations using expression quantitative trait loci (eQTLs).
To gain insights into biological pathways affected by genetic variants in diseases like celiac disease and asthma.

Main Methods:

Genome-wide gene expression profiling using oligonucleotide arrays.
Genotyping of hundreds of thousands of single-nucleotide polymorphism (SNP) markers.
Association analysis of gene expression variation with genetic variants (eQTLs) in cis and trans.

Main Results:

Successfully identified genetic variants associated with gene expression levels in a large population.
Demonstrated the identification of expression quantitative trait loci (eQTLs).
Provided insights into biological pathways implicated in diseases such as celiac disease and asthma.

Conclusions:

High-throughput gene expression analysis combined with SNP genotyping is a powerful strategy for understanding genetic influences on health.
eQTL analysis reveals how genetic variation impacts gene expression, offering a mechanism for disease association.
This approach enhances our understanding of complex diseases by linking genetic variants to functional changes in gene expression.