Serveur d'exploration autour de Joseph Jankovic

Attention, ce site est en cours de développement !
Attention, site généré par des moyens informatiques à partir de corpus bruts.
Les informations ne sont donc pas validées.

Novel recruitment strategy to enrich for LRRK2 mutation carriers

Identifieur interne : 000017 ( Pmc/Corpus ); précédent : 000016; suivant : 000018

Novel 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 ; Shirley Lasch ; Kenneth Marek

Source :

RBID : PMC:4585448

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.


Url:
DOI: 10.1002/mgg3.151
PubMed: 26436106
PubMed Central: 4585448

Links to Exploration step

PMC:4585448***** Acces problem to record *****\

Le document en format XML


Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/JankovicV1/Data/Pmc/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000017 | SxmlIndent | more

Ou

HfdSelect -h $EXPLOR_AREA/Data/Pmc/Corpus/biblio.hfd -nk 000017 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    JankovicV1
   |flux=    Pmc
   |étape=   Corpus
   |type=    RBID
   |clé=     PMC:4585448
   |texte=   Novel recruitment strategy to enrich for LRRK2 mutation carriers
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/Pmc/Corpus/RBID.i   -Sk "pubmed:26436106" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/Pmc/Corpus/biblio.hfd   \
       | NlmPubMed2Wicri -a JankovicV1 

Wicri

This area was generated with Dilib version V0.6.19.
Data generation: Wed Feb 10 22:03:07 2016. Site generation: Tue Feb 13 16:14:27 2024