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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

Screening algorithm.
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fig02: Screening algorithm.

Mentions: After providing their contact information, the participant was directed to an online study case report form (Fig.1). Participants were asked a series of questions to determine whether they had risk factors that would increase the likelihood that they carried a LRRK2 G2019S or R1441G mutation (Table1). Questions included whether or not they had PD, if they were of AJ ancestry, and whether or not they had a first-degree relative with PD. An algorithm based on the participant’s responses determined the individual’s eligibility to participate in the next phase of the study (Fig.2). Individuals with a diagnosis of PD had to report AJ ancestry and/or a first-degree relative with PD to qualify to receive genetic testing. To qualify for genetic testing, participants who did not have a diagnosis of PD were required to be of AJ ancestry and to also have a first-degree relative with PD. Any individual, regardless of PD status, who reported a first-degree relative with a LRRK2 mutation also qualified for genetic testing. A map of the US PPMI sites was displayed and participants were reminded that participation in the full PPMI study would require that they visit a PPMI site several times over the upcoming years. They were then asked to select the PPMI site that would be most convenient for them to go to for study visits. At the end of the screening questions and site selection, the individual received a message indicating whether they were eligible to participate in the genetic screening phase of the study.


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)

Screening algorithm.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

fig02: Screening algorithm.
Mentions: After providing their contact information, the participant was directed to an online study case report form (Fig.1). Participants were asked a series of questions to determine whether they had risk factors that would increase the likelihood that they carried a LRRK2 G2019S or R1441G mutation (Table1). Questions included whether or not they had PD, if they were of AJ ancestry, and whether or not they had a first-degree relative with PD. An algorithm based on the participant’s responses determined the individual’s eligibility to participate in the next phase of the study (Fig.2). Individuals with a diagnosis of PD had to report AJ ancestry and/or a first-degree relative with PD to qualify to receive genetic testing. To qualify for genetic testing, participants who did not have a diagnosis of PD were required to be of AJ ancestry and to also have a first-degree relative with PD. Any individual, regardless of PD status, who reported a first-degree relative with a LRRK2 mutation also qualified for genetic testing. A map of the US PPMI sites was displayed and participants were reminded that participation in the full PPMI study would require that they visit a PPMI site several times over the upcoming years. They were then asked to select the PPMI site that would be most convenient for them to go to for study visits. At the end of the screening questions and site selection, the individual received a message indicating whether they were eligible to participate in the genetic screening phase of the study.

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