Open AccessNovel recruitment strategy to enrich for LRRK 2 mutation carriers
Author(s) -
Foroud Tatiana,
Smith Danielle,
Jackson Jacqueline,
Verbrugge Jennifer,
Halter Cheryl,
Wetherill Leah,
Sims Katherine,
Xin Winnie,
Arnedo Vanessa,
Lasch Shirley,
Marek Kenneth
Publication year - 2015
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.151
Subject(s) - medical genetics , medical school , library science , genomic medicine , gerontology , medicine , genetics , medical education , biology , gene , computer science , computational biology
The LRRK 2 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 LRRK 2 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 LRRK 2 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 LRRK 2+ [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 LRRK 2 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.