Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa.
Identifieur interne : 001631 ( PubMed/Corpus ); précédent : 001630; suivant : 001632Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa.
Auteurs : Barbara Jasinska-Myga ; Jennifer Kachergus ; Carles Vilari O-Güell ; Christian Wider ; Alexandra I. Soto-Ortolaza ; Mounir Kefi ; Lefkos T. Middleton ; Lianna Ishihara-Paul ; Rachel A. Gibson ; Rim Amouri ; Samia Ben Yahmed ; Samia Ben Sassi ; Mourad Zouari ; Ghada El Euch ; Owen A. Ross ; Faycal Hentati ; Matthew J. FarrerSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.
English descriptors
- KwdEn :
- Adult, Africa, Northern (ethnology), Aged, Aged, 80 and over, Exons (genetics), Family Health, Female, Genotype, Humans, Male, Middle Aged, Mutation, Missense (genetics), Parkinsonian Disorders (genetics), Polymorphism, Single Nucleotide (genetics), Protein-Serine-Threonine Kinases (genetics), Sequence Analysis, DNA.
- MESH :
- chemical , genetics : Protein-Serine-Threonine Kinases.
- geographic , ethnology : Africa, Northern.
- genetics : Exons, Mutation, Missense, Parkinsonian Disorders, Polymorphism, Single Nucleotide.
- Adult, Aged, Aged, 80 and over, Family Health, Female, Genotype, Humans, Male, Middle Aged, Sequence Analysis, DNA.
Abstract
The LRRK2 gene is a key player in Parkinson's disease (PD), however prevalence and pathogenicity of LRRK2 variants remain to be investigated in ethnically diverse populations. Herein, we performed comprehensive sequencing of the LRRK2 gene in 92 Tunisian probands with familial PD. We then performed an association study using all identified variants in a series of 167 Lrrk2 p.G2019S-negative patients with sporadic PD and 365 Lrrk2 p.G2019S-negative healthy control subjects, all from the same Arab-Berber ethnicity. We identified one novel coding substitution (p.M2408I) and 24 known coding changes. Only the Lrrk2 p.G2019S mutation segregated with disease within families and was found in 39% of familial probands. None of the variants displayed significant association with risk for sporadic PD, however a trend was observed for Lrrk2 p.Y2189C. The present study underscores the importance of the LRRK2 gene in the Tunisian PD population.
DOI: 10.1002/mds.23283
PubMed: 20721913
Links to Exploration step
pubmed:20721913Le document en format XML
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<front><div type="abstract" xml:lang="en">The LRRK2 gene is a key player in Parkinson's disease (PD), however prevalence and pathogenicity of LRRK2 variants remain to be investigated in ethnically diverse populations. Herein, we performed comprehensive sequencing of the LRRK2 gene in 92 Tunisian probands with familial PD. We then performed an association study using all identified variants in a series of 167 Lrrk2 p.G2019S-negative patients with sporadic PD and 365 Lrrk2 p.G2019S-negative healthy control subjects, all from the same Arab-Berber ethnicity. We identified one novel coding substitution (p.M2408I) and 24 known coding changes. Only the Lrrk2 p.G2019S mutation segregated with disease within families and was found in 39% of familial probands. None of the variants displayed significant association with risk for sporadic PD, however a trend was observed for Lrrk2 p.Y2189C. The present study underscores the importance of the LRRK2 gene in the Tunisian PD population.</div>
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<Abstract><AbstractText>The LRRK2 gene is a key player in Parkinson's disease (PD), however prevalence and pathogenicity of LRRK2 variants remain to be investigated in ethnically diverse populations. Herein, we performed comprehensive sequencing of the LRRK2 gene in 92 Tunisian probands with familial PD. We then performed an association study using all identified variants in a series of 167 Lrrk2 p.G2019S-negative patients with sporadic PD and 365 Lrrk2 p.G2019S-negative healthy control subjects, all from the same Arab-Berber ethnicity. We identified one novel coding substitution (p.M2408I) and 24 known coding changes. Only the Lrrk2 p.G2019S mutation segregated with disease within families and was found in 39% of familial probands. None of the variants displayed significant association with risk for sporadic PD, however a trend was observed for Lrrk2 p.Y2189C. The present study underscores the importance of the LRRK2 gene in the Tunisian PD population.</AbstractText>
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