Variation in GIGYF2 is not associated with Parkinson disease
| Autor: | Diane Kissell, Kristi A. Clark, Tatiana Foroud, Ronald F. Pfeiffer, V. E. Elsaesser, Alice Rudolph, William C. Nichols, Joanne Wojcieszek, Cheryl Halter, Michael W. Pauciulo, Nathan Pankratz |
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| Rok vydání: | 2009 |
| Předmět: |
Male
Parkinson's disease Genotype Genetic Linkage DNA Mutational Analysis Disease Biology Polymorphism Single Nucleotide Open Reading Frames Degenerative disease Genetic linkage medicine Humans Genetic Predisposition to Disease Genetic Testing Aged Genetic testing Genetics Linkage (software) Base Sequence medicine.diagnostic_test Chromosome Mapping Genetic Variation Parkinson Disease Middle Aged medicine.disease Pedigree Chromosomes Human Pair 2 Mutation Chromosomal region Female Neurology (clinical) Carrier Proteins |
| Zdroj: | Neurology. 72:1886-1892 |
| ISSN: | 1526-632X 0028-3878 |
| DOI: | 10.1212/01.wnl.0000346517.98982.1b |
| Popis: | Objective: A recent study reported that mutations in a gene on chromosome 2q36-37, GIGYF2 , result in Parkinson disease (PD). We have previously reported linkage to this chromosomal region in a sample of multiplex PD families, with the strongest evidence of linkage obtained using the subset of the sample having the strongest family history of disease and meeting the strictest diagnostic criteria. We have tested whether mutations in GIGYF2 may account for the previously observed linkage finding. Methods: We sequenced the GIGYF2 coding region in 96 unrelated patients with PD used in our original study that contributed to the chromosome 2q36-37 linkage signal. Subsequently, we genotyped the entire sample of 566 multiplex PD kindreds as well as 1,447 controls to test whether variants in GIGYF2 are causative or increase susceptibility for PD. Results: We detected three novel variants as well as one of the previously reported seven variants in a total of five multiple PD families; however, there was no consistent evidence that these variants segregated with PD in these families. We also did not find a significant increase in risk for PD among those inheriting variants in GIGYF2 ( p = 0.28). Conclusions: We believe that variation in a gene other than GIGYF2 accounts for the previously reported linkage finding on chromosome 2q36-37. GDS = Geriatric Depression Scale; MMSE = Mini-Mental State Examination; NCRAD = National Cell Repository for Alzheimer’s Disease; PD = Parkinson disease; PSG = Parkinson Study Group; UPDRS = Unified Parkinson’s Disease Rating Scale. |
| Databáze: | OpenAIRE |
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