Novel recruitment strategy to enrich for LRRK2 mutation carriers
Identifieur interne : 000021 ( Main/Exploration ); précédent : 000020; suivant : 000022Novel recruitment strategy to enrich for LRRK2 mutation carriers
Auteurs : Tatiana Foroud ; Danielle Smith ; Jacqueline Jackson ; Jennifer Verbrugge ; Cheryl Halter ; Leah Wetherill ; Katherine Sims ; Winnie Xin ; Vanessa Arnedo [États-Unis] ; Shirley Lasch ; Kenneth MarekSource :
- Molecular Genetics & Genomic Medicine [ 2324-9269 ] ; 2015.
Abstract
The
Url:
DOI: 10.1002/mgg3.151
PubMed: 26436106
PubMed Central: 4585448
Affiliations:
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Novel recruitment strategy to enrich for <italic>LRRK2</italic> mutation carriers</title><author><name sortKey="Foroud, Tatiana" sort="Foroud, Tatiana" uniqKey="Foroud T" first="Tatiana" last="Foroud">Tatiana Foroud</name><affiliation><nlm:aff id="au1"><institution>Department of Medical and Molecular Genetics, Indiana University School of Medicine</institution><addr-line>Indianapolis, Indiana, 46202</addr-line></nlm:aff><wicri:noCountry code="subfield">46202</wicri:noCountry></affiliation></author><author><name sortKey="Smith, Danielle" sort="Smith, Danielle" uniqKey="Smith D" first="Danielle" last="Smith">Danielle Smith</name><affiliation><nlm:aff id="au1"><institution>Department of Medical and Molecular Genetics, Indiana University School of Medicine</institution><addr-line>Indianapolis, Indiana, 46202</addr-line></nlm:aff><wicri:noCountry code="subfield">46202</wicri:noCountry></affiliation></author><author><name sortKey="Jackson, Jacqueline" sort="Jackson, Jacqueline" uniqKey="Jackson J" first="Jacqueline" last="Jackson">Jacqueline Jackson</name><affiliation><nlm:aff id="au1"><institution>Department of Medical and Molecular Genetics, Indiana University School of Medicine</institution><addr-line>Indianapolis, Indiana, 46202</addr-line></nlm:aff><wicri:noCountry code="subfield">46202</wicri:noCountry></affiliation></author><author><name sortKey="Verbrugge, Jennifer" sort="Verbrugge, Jennifer" uniqKey="Verbrugge J" first="Jennifer" last="Verbrugge">Jennifer Verbrugge</name><affiliation><nlm:aff id="au1"><institution>Department of Medical and Molecular Genetics, Indiana University School of Medicine</institution><addr-line>Indianapolis, Indiana, 46202</addr-line></nlm:aff><wicri:noCountry code="subfield">46202</wicri:noCountry></affiliation></author><author><name sortKey="Halter, Cheryl" sort="Halter, Cheryl" uniqKey="Halter C" first="Cheryl" last="Halter">Cheryl Halter</name><affiliation><nlm:aff id="au1"><institution>Department of Medical and Molecular Genetics, Indiana University School of Medicine</institution><addr-line>Indianapolis, Indiana, 46202</addr-line></nlm:aff><wicri:noCountry code="subfield">46202</wicri:noCountry></affiliation></author><author><name sortKey="Wetherill, Leah" sort="Wetherill, Leah" uniqKey="Wetherill L" first="Leah" last="Wetherill">Leah Wetherill</name><affiliation><nlm:aff id="au1"><institution>Department of Medical and Molecular Genetics, Indiana University School of Medicine</institution><addr-line>Indianapolis, Indiana, 46202</addr-line></nlm:aff><wicri:noCountry code="subfield">46202</wicri:noCountry></affiliation></author><author><name sortKey="Sims, Katherine" sort="Sims, Katherine" uniqKey="Sims K" first="Katherine" last="Sims">Katherine Sims</name><affiliation><nlm:aff id="au2"><institution>Department of Neurology, Center for Human Genetic Research, Massachusetts General Hospital</institution><addr-line>Boston, Massachusetts, 02114</addr-line></nlm:aff><wicri:noCountry code="subfield">02114</wicri:noCountry></affiliation></author><author><name sortKey="Xin, Winnie" sort="Xin, Winnie" uniqKey="Xin W" first="Winnie" last="Xin">Winnie Xin</name><affiliation><nlm:aff id="au2"><institution>Department of Neurology, Center for Human Genetic Research, Massachusetts General Hospital</institution><addr-line>Boston, Massachusetts, 02114</addr-line></nlm:aff><wicri:noCountry code="subfield">02114</wicri:noCountry></affiliation></author><author><name sortKey="Arnedo, Vanessa" sort="Arnedo, Vanessa" uniqKey="Arnedo V" first="Vanessa" last="Arnedo">Vanessa Arnedo</name><affiliation wicri:level="2"><nlm:aff id="au3"><institution>Michael J. Fox Foundation</institution><addr-line>New York City, New York</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>New York City</wicri:cityArea></affiliation></author><author><name sortKey="Lasch, Shirley" sort="Lasch, Shirley" uniqKey="Lasch S" first="Shirley" last="Lasch">Shirley Lasch</name><affiliation><nlm:aff id="au4"><institution>Institute for Neurodegenerative Disorders</institution><addr-line>New Haven, Connecticut, 06510</addr-line></nlm:aff><wicri:noCountry code="subfield">06510</wicri:noCountry></affiliation></author><author><name sortKey="Marek, Kenneth" sort="Marek, Kenneth" uniqKey="Marek K" first="Kenneth" last="Marek">Kenneth Marek</name><affiliation><nlm:aff id="au4"><institution>Institute for Neurodegenerative Disorders</institution><addr-line>New Haven, Connecticut, 06510</addr-line></nlm:aff><wicri:noCountry code="subfield">06510</wicri:noCountry></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">26436106</idno><idno type="pmc">4585448</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4585448</idno><idno type="RBID">PMC:4585448</idno><idno type="doi">10.1002/mgg3.151</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">000017</idno><idno type="wicri:Area/Pmc/Curation">000017</idno><idno type="wicri:Area/Pmc/Checkpoint">000013</idno><idno type="wicri:Area/Ncbi/Merge">000516</idno><idno type="wicri:Area/Ncbi/Curation">000516</idno><idno type="wicri:Area/Ncbi/Checkpoint">000516</idno><idno type="wicri:doubleKey">2324-9269:2015:Foroud T:novel:recruitment:strategy</idno><idno type="wicri:Area/Main/Merge">000021</idno><idno type="wicri:Area/Main/Curation">000021</idno><idno type="wicri:Area/Main/Exploration">000021</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Novel recruitment strategy to enrich for <italic>LRRK2</italic> mutation carriers</title><author><name sortKey="Foroud, Tatiana" sort="Foroud, Tatiana" uniqKey="Foroud T" first="Tatiana" last="Foroud">Tatiana Foroud</name><affiliation><nlm:aff id="au1"><institution>Department of Medical and Molecular Genetics, Indiana University School of Medicine</institution><addr-line>Indianapolis, Indiana, 46202</addr-line></nlm:aff><wicri:noCountry code="subfield">46202</wicri:noCountry></affiliation></author><author><name sortKey="Smith, Danielle" sort="Smith, Danielle" uniqKey="Smith D" first="Danielle" last="Smith">Danielle Smith</name><affiliation><nlm:aff id="au1"><institution>Department of Medical and Molecular Genetics, Indiana University School of Medicine</institution><addr-line>Indianapolis, Indiana, 46202</addr-line></nlm:aff><wicri:noCountry code="subfield">46202</wicri:noCountry></affiliation></author><author><name sortKey="Jackson, Jacqueline" sort="Jackson, Jacqueline" uniqKey="Jackson J" first="Jacqueline" last="Jackson">Jacqueline Jackson</name><affiliation><nlm:aff id="au1"><institution>Department of Medical and Molecular Genetics, Indiana University School of Medicine</institution><addr-line>Indianapolis, Indiana, 46202</addr-line></nlm:aff><wicri:noCountry code="subfield">46202</wicri:noCountry></affiliation></author><author><name sortKey="Verbrugge, Jennifer" sort="Verbrugge, Jennifer" uniqKey="Verbrugge J" first="Jennifer" last="Verbrugge">Jennifer Verbrugge</name><affiliation><nlm:aff id="au1"><institution>Department of Medical and Molecular Genetics, Indiana University School of Medicine</institution><addr-line>Indianapolis, Indiana, 46202</addr-line></nlm:aff><wicri:noCountry code="subfield">46202</wicri:noCountry></affiliation></author><author><name sortKey="Halter, Cheryl" sort="Halter, Cheryl" uniqKey="Halter C" first="Cheryl" last="Halter">Cheryl Halter</name><affiliation><nlm:aff id="au1"><institution>Department of Medical and Molecular Genetics, Indiana University School of Medicine</institution><addr-line>Indianapolis, Indiana, 46202</addr-line></nlm:aff><wicri:noCountry code="subfield">46202</wicri:noCountry></affiliation></author><author><name sortKey="Wetherill, Leah" sort="Wetherill, Leah" uniqKey="Wetherill L" first="Leah" last="Wetherill">Leah Wetherill</name><affiliation><nlm:aff id="au1"><institution>Department of Medical and Molecular Genetics, Indiana University School of Medicine</institution><addr-line>Indianapolis, Indiana, 46202</addr-line></nlm:aff><wicri:noCountry code="subfield">46202</wicri:noCountry></affiliation></author><author><name sortKey="Sims, Katherine" sort="Sims, Katherine" uniqKey="Sims K" first="Katherine" last="Sims">Katherine Sims</name><affiliation><nlm:aff id="au2"><institution>Department of Neurology, Center for Human Genetic Research, Massachusetts General Hospital</institution><addr-line>Boston, Massachusetts, 02114</addr-line></nlm:aff><wicri:noCountry code="subfield">02114</wicri:noCountry></affiliation></author><author><name sortKey="Xin, Winnie" sort="Xin, Winnie" uniqKey="Xin W" first="Winnie" last="Xin">Winnie Xin</name><affiliation><nlm:aff id="au2"><institution>Department of Neurology, Center for Human Genetic Research, Massachusetts General Hospital</institution><addr-line>Boston, Massachusetts, 02114</addr-line></nlm:aff><wicri:noCountry code="subfield">02114</wicri:noCountry></affiliation></author><author><name sortKey="Arnedo, Vanessa" sort="Arnedo, Vanessa" uniqKey="Arnedo V" first="Vanessa" last="Arnedo">Vanessa Arnedo</name><affiliation wicri:level="2"><nlm:aff id="au3"><institution>Michael J. Fox Foundation</institution><addr-line>New York City, New York</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>New York City</wicri:cityArea></affiliation></author><author><name sortKey="Lasch, Shirley" sort="Lasch, Shirley" uniqKey="Lasch S" first="Shirley" last="Lasch">Shirley Lasch</name><affiliation><nlm:aff id="au4"><institution>Institute for Neurodegenerative Disorders</institution><addr-line>New Haven, Connecticut, 06510</addr-line></nlm:aff><wicri:noCountry code="subfield">06510</wicri:noCountry></affiliation></author><author><name sortKey="Marek, Kenneth" sort="Marek, Kenneth" uniqKey="Marek K" first="Kenneth" last="Marek">Kenneth Marek</name><affiliation><nlm:aff id="au4"><institution>Institute for Neurodegenerative Disorders</institution><addr-line>New Haven, Connecticut, 06510</addr-line></nlm:aff><wicri:noCountry code="subfield">06510</wicri:noCountry></affiliation></author></analytic><series><title level="j">Molecular Genetics & Genomic Medicine</title><idno type="ISSN">2324-9269</idno><idno type="e-ISSN">2324-9269</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>The <italic>LRRK2</italic> 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 <italic>LRRK2</italic> 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 (<italic>P</italic> = 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.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Alcalay, Rn" uniqKey="Alcalay R">RN Alcalay</name></author><author><name sortKey="Mirelman, A" uniqKey="Mirelman A">A Mirelman</name></author><author><name sortKey="Saunders Pullman, R" uniqKey="Saunders Pullman R">R Saunders-Pullman</name></author><author><name sortKey="Tang, Mx" uniqKey="Tang M">MX Tang</name></author><author><name sortKey="Mejia Santana, H" uniqKey="Mejia Santana H">H Mejia Santana</name></author><author><name sortKey="Raymond, D" uniqKey="Raymond D">D Raymond</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Elbaz, A" uniqKey="Elbaz A">A Elbaz</name></author><author><name sortKey="Grigoletto, F" uniqKey="Grigoletto F">F Grigoletto</name></author><author><name 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sortKey="Troiano, Ar" uniqKey="Troiano A">AR Troiano</name></author><author><name sortKey="Elbaz, A" uniqKey="Elbaz A">A Elbaz</name></author><author><name sortKey="Lohmann, E" uniqKey="Lohmann E">E Lohmann</name></author><author><name sortKey="Belarbi, S" uniqKey="Belarbi S">S Belarbi</name></author><author><name sortKey="Vidailhet, M" uniqKey="Vidailhet M">M Vidailhet</name></author><author><name sortKey="Bonnet, Am" uniqKey="Bonnet A">AM Bonnet</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>État de New York</li></region></list><tree><noCountry><name sortKey="Foroud, Tatiana" sort="Foroud, Tatiana" uniqKey="Foroud T" first="Tatiana" last="Foroud">Tatiana Foroud</name><name sortKey="Halter, Cheryl" sort="Halter, Cheryl" uniqKey="Halter C" first="Cheryl" last="Halter">Cheryl Halter</name><name sortKey="Jackson, Jacqueline" sort="Jackson, Jacqueline" uniqKey="Jackson J" first="Jacqueline" last="Jackson">Jacqueline Jackson</name><name sortKey="Lasch, Shirley" sort="Lasch, Shirley" uniqKey="Lasch S" first="Shirley" last="Lasch">Shirley Lasch</name><name sortKey="Marek, Kenneth" sort="Marek, Kenneth" uniqKey="Marek K" first="Kenneth" last="Marek">Kenneth Marek</name><name sortKey="Sims, Katherine" sort="Sims, Katherine" uniqKey="Sims K" first="Katherine" last="Sims">Katherine Sims</name><name sortKey="Smith, Danielle" sort="Smith, Danielle" uniqKey="Smith D" first="Danielle" last="Smith">Danielle Smith</name><name sortKey="Verbrugge, Jennifer" sort="Verbrugge, Jennifer" uniqKey="Verbrugge J" first="Jennifer" last="Verbrugge">Jennifer Verbrugge</name><name sortKey="Wetherill, Leah" sort="Wetherill, Leah" uniqKey="Wetherill L" first="Leah" last="Wetherill">Leah Wetherill</name><name sortKey="Xin, Winnie" sort="Xin, Winnie" uniqKey="Xin W" first="Winnie" last="Xin">Winnie Xin</name></noCountry><country name="États-Unis"><region name="État de New York"><name sortKey="Arnedo, Vanessa" sort="Arnedo, Vanessa" uniqKey="Arnedo V" first="Vanessa" last="Arnedo">Vanessa Arnedo</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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