NMDAR Gene Variations and Huntington Disease
Author Information
Author(s): Carsten Saft, Jörg T. Epplen, Stefan Wieczorek, G. Bernhard Landwehrmeyer, Raymund A.C. Roos, Justo García de Yebenes, Matthias Dose, Sarah Tabrizi, David Craufurd
Primary Institution: Ruhr-University, Bochum, Germany
Hypothesis
Do variations in the NR2A and NR2B glutamate receptor subunit genes explain additional variance in age at onset for Huntington disease?
Conclusion
The study found that variations in the GRIN2A and GRIN2B genes are associated with the age at onset of Huntington disease.
Supporting Evidence
- The study replicated the association of GRIN2A rs2650427 with age at onset in the entire cohort.
- Nominally significant associations were found for GRIN2A rs1969060 and GRIN2B rs1806201 when stratified by age at onset subtypes.
- GRIN2A rs2650427 showed consistent evidence of replication in the EHDN Registry study sample.
Takeaway
This study looked at how certain genes might affect when people start showing symptoms of Huntington disease. They found some links between these genes and the age symptoms begin.
Methodology
The study analyzed genetic data from 1,211 individuals with Huntington disease to test associations between specific gene variations and age at onset.
Potential Biases
The mixed ancestry of the study population may introduce variability in results.
Limitations
The sample size for some subgroups was too small to provide sufficient statistical power.
Participant Demographics
The cohort comprised individuals of European ancestry, with 529 men and 540 women.
Statistical Information
P-Value
p=0.028
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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