title: Novel recruitment strategy to enrich for LRRK2 mutation carriers.
abstract: The LRRK2 G2019S mutation is found at higher frequency among Parkinson disease (PD) patients of Ashkenazi Jewish (AJ) ancestry. This study was designed to test whether an internet-based approach could be an effective approach to screen and identify mutation carriers. Individuals with and without PD of AJ ancestry were recruited and consented through an internet-based study website. An algorithm was applied to a series of screening questions to identify individuals at increased risk to carry the LRRK2 G2019S mutation. About 1000 individuals completed the initial screening. Around 741 qualified for mutation testing and 650 were tested. Seventy-two individuals carried at least one LRRK2 G2019S mutation; 38 with PD (12.5%) and 34 without (10.1%). Among the AJ PD participants, each affected first-degree relative increased the likelihood the individual was LRRK2+ [OR = 4.7; 95% confidence interval = (2.4-9.0)]. The same was not observed among the unaffected AJ subjects (P = 0.11). An internet-based approach successfully screened large numbers of individuals to identify those with risk factors increasing the likelihood that they carried a LRRK2 G2019S mutation. A similar approach could be implemented in other disorders to identify individuals for clinical trials, biomarker analyses and other types of research studies.
authors.affiliation: Department of Medical and Molecular Genetics, Indiana University School of Medicine Indianapolis, Indiana, 46202.
authors.forename: Tatiana
authors.initials: T
authors.lastname: Foroud
authors.affiliation: Department of Medical and Molecular Genetics, Indiana University School of Medicine Indianapolis, Indiana, 46202.
authors.forename: Danielle
authors.initials: D
authors.lastname: Smith
authors.affiliation: Department of Medical and Molecular Genetics, Indiana University School of Medicine Indianapolis, Indiana, 46202.
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Jackson
authors.affiliation: Department of Medical and Molecular Genetics, Indiana University School of Medicine Indianapolis, Indiana, 46202.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Verbrugge
authors.affiliation: Department of Medical and Molecular Genetics, Indiana University School of Medicine Indianapolis, Indiana, 46202.
authors.forename: Cheryl
authors.initials: C
authors.lastname: Halter
authors.affiliation: Department of Medical and Molecular Genetics, Indiana University School of Medicine Indianapolis, Indiana, 46202.
authors.forename: Leah
authors.initials: L
authors.lastname: Wetherill
authors.affiliation: Department of Neurology, Center for Human Genetic Research, Massachusetts General Hospital Boston, Massachusetts, 02114.
authors.forename: Katherine
authors.initials: K
authors.lastname: Sims
authors.affiliation: Department of Neurology, Center for Human Genetic Research, Massachusetts General Hospital Boston, Massachusetts, 02114.
authors.forename: Winnie
authors.initials: W
authors.lastname: Xin
authors.affiliation: Michael J. Fox Foundation New York City, New York.
authors.forename: Vanessa
authors.initials: V
authors.lastname: Arnedo
authors.affiliation: Institute for Neurodegenerative Disorders New Haven, Connecticut, 06510.
authors.forename: Shirley
authors.initials: S
authors.lastname: Lasch
authors.affiliation: Institute for Neurodegenerative Disorders New Haven, Connecticut, 06510.
authors.forename: Kenneth
authors.initials: K
authors.lastname: Marek
keywords: LRRK2; Parkinson disease; genetic testing