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Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non‐Ashkenazi Jewish ancestry
Movement disorders, 2017-10, Vol.32 (10), p.1432-1438
Lee, Annie J.
Wang, Yuanjia
Alcalay, Roy N.
Mejia‐Santana, Helen
Saunders‐Pullman, Rachel
Bressman, Susan
Corvol, Jean‐Christophe
Brice, Alexis
Lesage, Suzanne
Mangone, Graziella
Tolosa, Eduardo
Pont‐Sunyer, Claustre
Vilas, Dolores
Schüle, Birgitt
Kausar, Farah
Foroud, Tatiana
Berg, Daniela
Brockmann, Kathrin
Goldwurm, Stefano
Siri, Chiara
Asselta, Rosanna
Ruiz‐Martinez, Javier
Mondragón, Elisabet
Marras, Connie
Ghate, Taneera
Giladi, Nir
Mirelman, Anat
Marder, Karen
2017
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Lee, Annie J.
Wang, Yuanjia
Alcalay, Roy N.
Mejia‐Santana, Helen
Saunders‐Pullman, Rachel
Bressman, Susan
Corvol, Jean‐Christophe
Brice, Alexis
Lesage, Suzanne
Mangone, Graziella
Tolosa, Eduardo
Pont‐Sunyer, Claustre
Vilas, Dolores
Schüle, Birgitt
Kausar, Farah
Foroud, Tatiana
Berg, Daniela
Brockmann, Kathrin
Goldwurm, Stefano
Siri, Chiara
Asselta, Rosanna
Ruiz‐Martinez, Javier
Mondragón, Elisabet
Marras, Connie
Ghate, Taneera
Giladi, Nir
Mirelman, Anat
Marder, Karen
Titel
Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non‐Ashkenazi Jewish ancestry
Ist Teil von
Movement disorders, 2017-10, Vol.32 (10), p.1432-1438
Ort / Verlag
United States: Wiley Subscription Services, Inc
Erscheinungsjahr
2017
Quelle
Wiley-Blackwell Journals
Beschreibungen/Notizen
ABSTRACT Background Penetrance estimates of the leucine‐rich repeat kinase 2 (LRRK2) p.G2019S mutation for PD vary widely (24%‐100%). The p.G2019S penetrance in individuals of Ashkenazi Jewish ancestry has been estimated as 25%, adjusted for multiple covariates. It is unknown whether penetrance varies among different ethnic groups. The objective of this study was to estimate the penetrance of p.G2019S in individuals of non‐Ashkenazi Jewish ancestry and compare penetrance between Ashkenazi Jews and non‐Ashkenazi Jews to age 80. Methods The kin‐cohort method was used to estimate penetrance in 474 first‐degree relatives of 69 non‐Ashkenazi Jewish LRRK2 p.G2019S carrier probands at 8 sites from the Michael J. Fox LRRK2 Cohort Consortium. An identical validated family history interview was administered to assess age at onset of PD, current age, or age at death for relatives in different ethnic groups at each site. Neurological examination and LRRK2 genotype of relatives were included when available. Results Risk of PD in non‐Ashkenazi Jewish relatives who carry a LRRK2 p.G2019S mutation was 42.5% (95% confidence interval [CI]: 26.3%‐65.8%) to age 80, which is not significantly higher than the previously estimated 25% (95% CI: 16.7%‐34.2%) in Ashkenazi Jewish carrier relatives. The penetrance of PD to age 80 in LRRK2 p.G2019S mutation carrier relatives was significantly higher than the noncarrier relatives, as seen in Ashkenazi Jewish relatives. Conclusions The similar penetrance of LRRK2 p.G2019S estimated in Ashkenazi Jewish carriers and non‐Ashkenazi Jewish carriers confirms that p.G2019S penetrance is 25% to 42.5% at age 80 in all populations analyzed. © 2017 International Parkinson and Movement Disorder Society
Sprache
Englisch
Identifikatoren
ISSN: 0885-3185
eISSN: 1531-8257
DOI: 10.1002/mds.27059
Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5656509
Format
–
Schlagworte
Adult
,
Age
,
Aged
,
Aged, 80 and over
,
Cohort Studies
,
Family Health
,
Female
,
Gene Frequency
,
Genealogy
,
Genetic Predisposition to Disease - genetics
,
Genetic Testing
,
Glycine - genetics
,
Heredity
,
Humans
,
Jewish people
,
Jews - genetics
,
Leucine
,
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 - genetics
,
Life Sciences
,
LRRK2
,
LRRK2 protein
,
Male
,
Middle Aged
,
Minority & ethnic groups
,
Movement disorders
,
Mutation
,
Mutation - genetics
,
Neurodegenerative diseases
,
Neurons and Cognition
,
Parkinson Disease - ethnology
,
Parkinson Disease - genetics
,
Parkinson's disease
,
Penetrance
,
Risk factors
,
Serine - genetics
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