VEGFR2 Gene Screening in ALS Patients
Author Information
Author(s): Brockington Alice, Wokke Beatrijs, Nixon Hannah, Hartley Judith, Shaw Pamela J
Primary Institution: University of Sheffield
Hypothesis
Does genetic variation in the VEGFR2 gene contribute to lower expression of this receptor in ALS patients?
Conclusion
Genetic variation in the VEGFR2 gene does not cause downregulation of VEGF signaling in ALS patients.
Supporting Evidence
- No mutations were identified in the VEGFR2 gene.
- There was no association between polymorphisms in the regulatory regions of the VEGFR2 gene and ALS.
- The study had a power of 89% to detect a relative risk of 1.8 at a 0.05 significance level.
Takeaway
The study looked at a gene related to a protein that helps nerve cells survive in people with ALS, but found no genetic changes that could explain why this protein is less active in these patients.
Methodology
The study sequenced the promoter and exonic regions of the VEGFR2 gene in ALS patients and controls to identify mutations and polymorphisms.
Limitations
The study did not exclude the possibility that variations in other regions of the VEGFR2 gene could affect its function.
Participant Demographics
58% of ALS patients were male, mean age 61.8; control group had 56% males, mean age 56.6.
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website