Copy Number Variation in Familial Parkinson Disease
Author Information
Author(s): Nathan Pankratz, Alexandra Dumitriu, Kurt N. Hetrick, Mei Sun, Jeanne C. Latourelle, Jemma B. Wilk, Cheryl Halter, Kimberly F. Doheny, James F. Gusella, William C. Nichols, Richard H. Myers, Tatiana Foroud, Anita L. DeStefano
Primary Institution: Department of Medical and Molecular Genetics, Indiana University School of Medicine
Hypothesis
Does a single dosage mutation in PARK2 increase the risk of Parkinson disease?
Conclusion
The study found that copy number variations in the PARK2 gene are associated with an increased risk of developing Parkinson disease.
Supporting Evidence
- 816 cases and 856 controls were analyzed.
- A single PARK2 dosage mutation was found in 10 of the 396 independent cases.
- The odds ratio for the association was 2.7.
- The study replicated previous findings of PARK2 haploinsufficiency as a risk factor for familial PD.
Takeaway
This study looked at DNA changes in people with Parkinson's disease and found that certain changes in a gene called PARK2 can make it more likely for someone to get the disease.
Methodology
The study used genome-wide association analysis with two CNV calling algorithms, PennCNV and QuantiSNP, on DNA samples from familial Parkinson disease cases and controls.
Potential Biases
Potential bias due to differences in DNA sources between cases (whole blood) and controls (lymphoblast cell lines).
Limitations
The study had a relatively sparse marker set and used different DNA sources for cases and controls, which may have affected the results.
Participant Demographics
The study included 816 cases of familial Parkinson disease and 856 controls, with controls being younger and more likely to be female.
Statistical Information
P-Value
0.03
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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