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Novel recruitment strategy to enrich for LRRK2 mutation carriers.

Foroud T, Smith D, Jackson J, Verbrugge J, Halter C, Wetherill L, Sims K, Xin W, Arnedo V, Lasch S, Marek K, Parkinson's Progression Markers Initiativ - Mol Genet Genomic Med (2015)

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Medical and Molecular Genetics, Indiana University School of Medicine Indianapolis, Indiana, 46202.

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.

No MeSH data available.


Related in: MedlinePlus

Study overview.
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fig01: Study overview.

Mentions: The Michael J. Fox Foundation prepared recruitment material that highlighted the higher frequency of the LRRK2 G2019S mutation in the AJ population. The recruitment materials were widely distributed through print, e-mail and in-person campaigns to individuals of AJ ancestry. In addition, recruitment materials were also distributed broadly by the Michael J. Fox Foundation to individuals interested in PD research. Interested individuals were directed to the Michael J. Fox Foundation PPMI website for an initial screening to determine if they had risk factors that indicated an increased risk of a LRRK2 mutation (Fig.1). Individuals who met the initial criteria were then provided a link which directed them to a website at Indiana University.


Novel recruitment strategy to enrich for LRRK2 mutation carriers.

Foroud T, Smith D, Jackson J, Verbrugge J, Halter C, Wetherill L, Sims K, Xin W, Arnedo V, Lasch S, Marek K, Parkinson's Progression Markers Initiativ - Mol Genet Genomic Med (2015)

Study overview.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4585448&req=5

fig01: Study overview.
Mentions: The Michael J. Fox Foundation prepared recruitment material that highlighted the higher frequency of the LRRK2 G2019S mutation in the AJ population. The recruitment materials were widely distributed through print, e-mail and in-person campaigns to individuals of AJ ancestry. In addition, recruitment materials were also distributed broadly by the Michael J. Fox Foundation to individuals interested in PD research. Interested individuals were directed to the Michael J. Fox Foundation PPMI website for an initial screening to determine if they had risk factors that indicated an increased risk of a LRRK2 mutation (Fig.1). Individuals who met the initial criteria were then provided a link which directed them to a website at Indiana University.

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Medical and Molecular Genetics, Indiana University School of Medicine Indianapolis, Indiana, 46202.

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.

No MeSH data available.


Related in: MedlinePlus