Frequency of LRRK2 mutations in early- and late-onset Parkinson disease
| Autor: | Yuanjia Wang, Stanley Fahn, Lucien J. Cote, Elan D. Louis, Blair Ford, Lorraine N. Clark, L. Saito, Howard Andrews, Juliette Harris, Cheryl Waters, Karen Marder, Ruth Ottman, E. Karlins, Steven J. Frucht, Helen Mejia-Santana |
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| Rok vydání: | 2006 |
| Předmět: |
Adult
Male Heterozygote medicine.medical_specialty Genotype DNA Mutational Analysis Inheritance Patterns Penetrance Single-nucleotide polymorphism Late onset Protein Serine-Threonine Kinases Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 Polymorphism Single Nucleotide Gastroenterology Gene Frequency Internal medicine medicine Humans Genetic Predisposition to Disease Genetic Testing Age of Onset Risk factor Family history Aged Aged 80 and over Genetics business.industry Haplotype Parkinson Disease Middle Aged LRRK2 nervous system diseases Haplotypes Genetic epidemiology Jews Mutation Mutation (genetic algorithm) Female Neurology (clinical) business |
| Zdroj: | Neurology. 67:1786-1791 |
| ISSN: | 1526-632X 0028-3878 |
| DOI: | 10.1212/01.wnl.0000244345.49809.36 |
| Popis: | To evaluate the frequency of leucine-rich repeat kinase gene (LRRK2) mutations and single nucleotide polymorphisms (SNPs) in early-onset Parkinson disease (EOPD) and late-onset Parkinson disease (LOPD).We genotyped five previously reported LRRK2 mutations (G2019S, L1114L, I1122V, R1441C, and Y1699C) and 17 coding SNPs for haplotype analysis in 504 cases with PD and 314 controls enrolled in the Genetic Epidemiology of PD Study. Cases and controls were recruited without knowledge of family history of PD and cases were oversampled in theor =50 age at onset (AAO) category.The LRRK2 G2019S mutation was present in 28 cases with PD (5.6%) and two controls (0.6%) (chi(2) = 13.25; p0.01; odds ratio 9.18, 95% CI: 2.17 to 38.8). The mutations L1114L, I1122V, R1441C, and Y1699C were not identified. The frequency of the LRRK2 G2019S mutation was 4.9% in 245 cases with AAOor =50 years vs 6.2% in 259 cases with AAO50 (p = 0.56). All cases with PD with the G2019S mutation shared the same disease-associated haplotype. The frequency of the LRRK2 G2019S mutation was higher in the subset of 181 cases reporting four Jewish grandparents (9.9%) than in other cases (3.1%) (p0.01). Age-specific penetrance to age 80 was 24% and was similar in Jewish and non-Jewish cases.The G2019S mutation is a risk factor in both early- and late-onset Parkinson disease and confirms the previous report of a greater frequency of the G2019S mutation in Jewish than in non-Jewish cases with Parkinson disease. |
| Databáze: | OpenAIRE |
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