Thermo ebook on eQTL - 17

Researchers are increasingly using genomics to study genetic diseases, including those that may be characterized by a single mutation. Image from Dreamstime.

near the FMR1 gene. The researchers identified five
SNPs that met genome-wide significance, arranged
within a 66 kb interval located 75 kb 5' of FMR1. After
examining a number of potential alternative explanations for their unexpected findings, including allele assignment, control selection, sample bias, and
other errors, the researchers concluded that their
genome-wide association study of FXS cases had in
fact identified an unusually strong association with
the FMR1 region.

reminder of the complexity of even 'simple' monogenetic disorders," noted the authors of the fragile
X paper. Newly discovered genetic features associated with disease risk and progression present new
opportunities, including the potential identification
of druggable targets and the development of new
therapies that modify progression, forestall symptoms, or accelerate accurate diagnoses so patients
can get the medical help they need sooner.

References

Further, the authors noted that their finding was
not previously unknown to science-microsatellite
studies published 20 years previously reported linkage disequilibria between the fragile X locus and
its flanking markers. Now that this finding has been
replicated by GWAS, its clinical relevance should be
considered. For example, to speed diagnosis while
maximizing laboratory efficiency, subjects with features of FXS and a risk haplotype composed of the
significant SNPs could be recommended for FMR1
CGG repeat analysis.

Am J Respir Crit Care Med. Airway Mucosal Host
Defense Is Key to Genomic Regulation of Cystic Fibrosis
Lung Disease Severity. 2018 Jan 1;197(1):79-93. doi:
10.1164/rccm.201701-0134OC.

Ann Neurol. Long-range genomic regulators of THBS1
and LTBP4 modify disease severity in duchenne
muscular dystrophy.2018 Aug;84(2):234-245. doi:
10.1002/ana.25283.

Mol Psychiatry. Common-variant associations with
fragile X syndrome. 2019 Mar;24(3):338-344. doi:
10.1038/s41380-018-0290-3.

A salutary reminder
Genomic approaches to genetic diseases uncover
vast unknown associations both near and far from
the known, causal, single genes. "This is a salutary

Matthew Wygant is a freelance biotech writer with an
M.S. in cellular, viral, and molecular biology from the
University of Utah.

Thermo ebook on eQTL

Table of Contents for the Digital Edition of Thermo ebook on eQTL