Cathepsin D Gene Variant Linked to Variant Creutzfeldt-Jakob Disease Risk
Author Information
Author(s): Matthew T Bishop, Gabor G Kovacs, Pascual Sanchez-Juan, Richard SG Knight
Primary Institution: National CJD Surveillance Unit, Edinburgh, UK
Hypothesis
Does the cathepsin D gene polymorphism rs17571 affect the risk of developing variant Creutzfeldt-Jakob disease?
Conclusion
The study found that the cathepsin D TT genotype is associated with a significantly increased risk of variant Creutzfeldt-Jakob disease.
Supporting Evidence
- The TT genotype was found in 2.7% of vCJD patients compared to 0.3% in controls.
- The TT genotype increases the risk of vCJD by 9.75 fold compared to CT and 10.92 fold compared to CC.
- Statistical analysis showed significant differences in genotype frequencies between vCJD patients and controls.
Takeaway
Some people have a gene change that makes them much more likely to get a rare brain disease from eating infected beef.
Methodology
Blood samples from 110 vCJD patients were tested for the cathepsin D gene variant and compared to control data using logistic regression.
Limitations
The small number of TT individuals limits the strength of the conclusions.
Participant Demographics
59% of the patients were male, with a median age of 27 years.
Statistical Information
P-Value
0.009
Confidence Interval
1.80–66.26
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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