ParkinsonCanadaV1, Main, Exploration, bibRecord, 001B03

LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease

Identifieur interne : 001B03 ( Main/Exploration ); précédent : 001B02; suivant : 001B04

LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease

Auteurs : Carles Vilari O-Güell ; Christian Wider ; Owen A. Ross ; Barbara Jasinska-Myga ; Jennifer Kachergus ; Stephanie A. Cobb ; Alexandra I. Soto-Ortolaza ; Bahareh Behrouz ; Michael G. Heckman ; Nancy N. Diehl ; Claudia M. Testa ; Zbigniew K. Wszolek ; Ryan J. Uitti ; Joseph Jankovic [États-Unis] ; Elan D. Louis ; Lorraine N. Clark ; Alex Rajput ; Matthew J. Farrer

Source :

Neurogenetics [ 1364-6745 ] ; 2010.

RBID : PMC:3930084

English descriptors

KwdEn :
- Adult, Aged, Aged, 80 and over, Essential Tremor (genetics), Female, Haplotypes, Humans, Male, Membrane Proteins (genetics), Middle Aged, Models, Genetic, Nerve Tissue Proteins (genetics), Odds Ratio, Parkinson Disease (genetics), Polymorphism, Single Nucleotide, Sequence Analysis, DNA.
MESH :
- chemical , genetics : Membrane Proteins, Nerve Tissue Proteins.
- genetics : Essential Tremor, Parkinson Disease.
- Adult, Aged, Aged, 80 and over, Female, Haplotypes, Humans, Male, Middle Aged, Models, Genetic, Odds Ratio, Polymorphism, Single Nucleotide, Sequence Analysis, DNA.

Abstract

Genetic variation in the leucine-rich repeat and Ig domain containing 1 gene (LINGO1) was recently associated with an increased risk of developing essential tremor (ET) and Parkinson disease (PD). Herein, we performed a comprehensive study of LINGO1 and its paralog LINGO2 in ET and PD by sequencing both genes in patients (ET, n=95; PD, n=96) and by examining haplotype-tagging single-nucleotide polymorphisms (tSNPs) in a multicenter North American series of patients (ET, n=1,247; PD, n=633) and controls (n=642). The sequencing study identified six novel coding variants in LINGO1 (p.S4C, p.V107M, p.A277T, p.R423R, p.G537A, p.D610D) and three in LINGO2 (p.D135D, p.P217P, p.V565V), however segregation analysis did not support pathogenicity. The association study employed 16 tSNPs at the LINGO1 locus and 21 at the LINGO2 locus. One variant in LINGO1 (rs9652490) displayed evidence of an association with ET (odds ratio (OR)=0.63; P=0.026) and PD (OR=0.54; P=0.016). Additionally, four other tSNPs in LINGO1 and one in LINGO2 were associated with ET and one tSNP in LINGO2 associated with PD (P<0.05). Further analysis identified one tSNP in LINGO1 and two in LINGO2 which influenced age at onset of ET and two tSNPs in LINGO1 which altered age at onset of PD (P<0.05). Our results support a role for LINGO1 and LINGO2 in determining risk for and perhaps age at onset of ET and PD. Further studies are warranted to confirm these findings and to determine the pathogenic mechanisms involved.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3930084

DOI: 10.1007/s10048-010-0241-x
PubMed: 20369371
PubMed Central: 3930084

Affiliations:

Le document en format XML

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<author><name sortKey="Wider, Christian" sort="Wider, Christian" uniqKey="Wider C" first="Christian" last="Wider">Christian Wider</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><italic>LINGO1</italic>
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 variants are associated with essential tremor and Parkinson disease</title>
<author><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name>
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<author><name sortKey="Wider, Christian" sort="Wider, Christian" uniqKey="Wider C" first="Christian" last="Wider">Christian Wider</name>
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<author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name>
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<author><name sortKey="Jasinska Myga, Barbara" sort="Jasinska Myga, Barbara" uniqKey="Jasinska Myga B" first="Barbara" last="Jasinska-Myga">Barbara Jasinska-Myga</name>
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<author><name sortKey="Kachergus, Jennifer" sort="Kachergus, Jennifer" uniqKey="Kachergus J" first="Jennifer" last="Kachergus">Jennifer Kachergus</name>
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<author><name sortKey="Cobb, Stephanie A" sort="Cobb, Stephanie A" uniqKey="Cobb S" first="Stephanie A." last="Cobb">Stephanie A. Cobb</name>
</author>
<author><name sortKey="Soto Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza A" first="Alexandra I." last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name>
</author>
<author><name sortKey="Behrouz, Bahareh" sort="Behrouz, Bahareh" uniqKey="Behrouz B" first="Bahareh" last="Behrouz">Bahareh Behrouz</name>
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<author><name sortKey="Heckman, Michael G" sort="Heckman, Michael G" uniqKey="Heckman M" first="Michael G." last="Heckman">Michael G. Heckman</name>
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<author><name sortKey="Diehl, Nancy N" sort="Diehl, Nancy N" uniqKey="Diehl N" first="Nancy N." last="Diehl">Nancy N. Diehl</name>
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<author><name sortKey="Testa, Claudia M" sort="Testa, Claudia M" uniqKey="Testa C" first="Claudia M." last="Testa">Claudia M. Testa</name>
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<author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
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<author><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name>
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<author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
<affiliation><country>États-Unis</country>
<placeName><settlement type="city">Houston</settlement>
<region type="state">Texas</region>
</placeName>
<orgName type="university" n="3">Baylor College of Medicine</orgName>
</affiliation>
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<author><name sortKey="Louis, Elan D" sort="Louis, Elan D" uniqKey="Louis E" first="Elan D." last="Louis">Elan D. Louis</name>
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</author>
<author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
</author>
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<series><title level="j">Neurogenetics</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Essential Tremor (genetics)</term>
<term>Female</term>
<term>Haplotypes</term>
<term>Humans</term>
<term>Male</term>
<term>Membrane Proteins (genetics)</term>
<term>Middle Aged</term>
<term>Models, Genetic</term>
<term>Nerve Tissue Proteins (genetics)</term>
<term>Odds Ratio</term>
<term>Parkinson Disease (genetics)</term>
<term>Polymorphism, Single Nucleotide</term>
<term>Sequence Analysis, DNA</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Membrane Proteins</term>
<term>Nerve Tissue Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Essential Tremor</term>
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Female</term>
<term>Haplotypes</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Models, Genetic</term>
<term>Odds Ratio</term>
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<front><div type="abstract" xml:lang="en"><p id="P1">Genetic variation in the leucine-rich repeat and Ig domain containing 1 gene (<italic>LINGO1</italic>
) was recently associated with an increased risk of developing essential tremor (ET) and Parkinson disease (PD). Herein, we performed a comprehensive study of <italic>LINGO1</italic>
 and its paralog <italic>LINGO2</italic>
 in ET and PD by sequencing both genes in patients (ET, <italic>n</italic>
=95; PD, <italic>n</italic>
=96) and by examining haplotype-tagging single-nucleotide polymorphisms (tSNPs) in a multicenter North American series of patients (ET, <italic>n</italic>
=1,247; PD, <italic>n</italic>
=633) and controls (<italic>n</italic>
=642). The sequencing study identified six novel coding variants in <italic>LINGO1</italic>
 (p.S4C, p.V107M, p.A277T, p.R423R, p.G537A, p.D610D) and three in <italic>LINGO2</italic>
 (p.D135D, p.P217P, p.V565V), however segregation analysis did not support pathogenicity. The association study employed 16 tSNPs at the <italic>LINGO1</italic>
 locus and 21 at the <italic>LINGO2</italic>
 locus. One variant in <italic>LINGO1</italic>
 (rs9652490) displayed evidence of an association with ET (odds ratio (OR)=0.63; <italic>P</italic>
=0.026) and PD (OR=0.54; <italic>P</italic>
=0.016). Additionally, four other tSNPs in <italic>LINGO1</italic>
 and one in <italic>LINGO2</italic>
 were associated with ET and one tSNP in <italic>LINGO2</italic>
 associated with PD (<italic>P</italic>
<0.05). Further analysis identified one tSNP in <italic>LINGO1</italic>
 and two in <italic>LINGO2</italic>
 which influenced age at onset of ET and two tSNPs in <italic>LINGO1</italic>
 which altered age at onset of PD (<italic>P</italic>
<0.05). Our results support a role for <italic>LINGO1</italic>
 and <italic>LINGO2</italic>
 in determining risk for and perhaps age at onset of ET and PD. Further studies are warranted to confirm these findings and to determine the pathogenic mechanisms involved.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>États-Unis</li>
</country>
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<tree><noCountry><name sortKey="Behrouz, Bahareh" sort="Behrouz, Bahareh" uniqKey="Behrouz B" first="Bahareh" last="Behrouz">Bahareh Behrouz</name>
<name sortKey="Clark, Lorraine N" sort="Clark, Lorraine N" uniqKey="Clark L" first="Lorraine N." last="Clark">Lorraine N. Clark</name>
<name sortKey="Cobb, Stephanie A" sort="Cobb, Stephanie A" uniqKey="Cobb S" first="Stephanie A." last="Cobb">Stephanie A. Cobb</name>
<name sortKey="Diehl, Nancy N" sort="Diehl, Nancy N" uniqKey="Diehl N" first="Nancy N." last="Diehl">Nancy N. Diehl</name>
<name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
<name sortKey="Heckman, Michael G" sort="Heckman, Michael G" uniqKey="Heckman M" first="Michael G." last="Heckman">Michael G. Heckman</name>
<name sortKey="Jasinska Myga, Barbara" sort="Jasinska Myga, Barbara" uniqKey="Jasinska Myga B" first="Barbara" last="Jasinska-Myga">Barbara Jasinska-Myga</name>
<name sortKey="Kachergus, Jennifer" sort="Kachergus, Jennifer" uniqKey="Kachergus J" first="Jennifer" last="Kachergus">Jennifer Kachergus</name>
<name sortKey="Louis, Elan D" sort="Louis, Elan D" uniqKey="Louis E" first="Elan D." last="Louis">Elan D. Louis</name>
<name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name>
<name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name>
<name sortKey="Soto Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza A" first="Alexandra I." last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name>
<name sortKey="Testa, Claudia M" sort="Testa, Claudia M" uniqKey="Testa C" first="Claudia M." last="Testa">Claudia M. Testa</name>
<name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name>
<name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name>
<name sortKey="Wider, Christian" sort="Wider, Christian" uniqKey="Wider C" first="Christian" last="Wider">Christian Wider</name>
<name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
</noCountry>
<country name="États-Unis"><region name="Texas"><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
</region>
</country>
</tree>
</affiliations>
</record>

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La maladie de Parkinson au Canada (serveur d'exploration)

LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease

LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease

Source :

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki

	La maladie de Parkinson au Canada (serveur d'exploration)
	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.