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Frequency of LRRK2 mutations in early- and late-onset Parkinson disease.
Neurology. 2006 Nov 28; 67(10):1786-91.Neur

Abstract

OBJECTIVE

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).

METHODS

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 the < or =50 age at onset (AAO) category.

RESULTS

The LRRK2 G2019S mutation was present in 28 cases with PD (5.6%) and two controls (0.6%) (chi(2) = 13.25; p < 0.01; 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 AAO < or =50 years vs 6.2% in 259 cases with AAO >50 (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%) (p < 0.01). Age-specific penetrance to age 80 was 24% and was similar in Jewish and non-Jewish cases.

CONCLUSIONS

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.

Authors+Show Affiliations

Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, P&S Building, 14-434, 630 West 168th Street, New York, NY 10032, USA. lc654@columbia.eduNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

17050822

Citation

Clark, L N., et al. "Frequency of LRRK2 Mutations in Early- and Late-onset Parkinson Disease." Neurology, vol. 67, no. 10, 2006, pp. 1786-91.
Clark LN, Wang Y, Karlins E, et al. Frequency of LRRK2 mutations in early- and late-onset Parkinson disease. Neurology. 2006;67(10):1786-91.
Clark, L. N., Wang, Y., Karlins, E., Saito, L., Mejia-Santana, H., Harris, J., Louis, E. D., Cote, L. J., Andrews, H., Fahn, S., Waters, C., Ford, B., Frucht, S., Ottman, R., & Marder, K. (2006). Frequency of LRRK2 mutations in early- and late-onset Parkinson disease. Neurology, 67(10), 1786-91.
Clark LN, et al. Frequency of LRRK2 Mutations in Early- and Late-onset Parkinson Disease. Neurology. 2006 Nov 28;67(10):1786-91. PubMed PMID: 17050822.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Frequency of LRRK2 mutations in early- and late-onset Parkinson disease. AU - Clark,L N, AU - Wang,Y, AU - Karlins,E, AU - Saito,L, AU - Mejia-Santana,H, AU - Harris,J, AU - Louis,E D, AU - Cote,L J, AU - Andrews,H, AU - Fahn,S, AU - Waters,C, AU - Ford,B, AU - Frucht,S, AU - Ottman,R, AU - Marder,K, Y1 - 2006/10/18/ PY - 2006/10/20/pubmed PY - 2006/12/28/medline PY - 2006/10/20/entrez SP - 1786 EP - 91 JF - Neurology JO - Neurology VL - 67 IS - 10 N2 - OBJECTIVE: 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). METHODS: 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 the < or =50 age at onset (AAO) category. RESULTS: The LRRK2 G2019S mutation was present in 28 cases with PD (5.6%) and two controls (0.6%) (chi(2) = 13.25; p < 0.01; 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 AAO < or =50 years vs 6.2% in 259 cases with AAO >50 (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%) (p < 0.01). Age-specific penetrance to age 80 was 24% and was similar in Jewish and non-Jewish cases. CONCLUSIONS: 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. SN - 1526-632X UR - https://www.unboundmedicine.com/medline/citation/17050822/Frequency_of_LRRK2_mutations_in_early__and_late_onset_Parkinson_disease_ L2 - http://www.neurology.org/cgi/pmidlookup?view=long&amp;pmid=17050822 DB - PRIME DP - Unbound Medicine ER -