Pathogenicity of LRRK2 P755L variant in Parkinson's disease
Identifieur interne : 002700 ( Main/Exploration ); précédent : 002699; suivant : 002701Pathogenicity of LRRK2 P755L variant in Parkinson's disease
Auteurs : Eng-King Tan [Singapour] ; Hui-Qin Lim [Singapour] ; Yih Yuen [Singapour] ; Yi Zhao [Singapour]Source :
- Movement Disorders [ 0885-3185 ] ; 2008-04-15.
Descripteurs français
- Pascal (Inist)
- Wicri :
- geographic : Singapour.
English descriptors
- KwdEn :
- Aged, Aged, 80 and over, Amino Acid Substitution (genetics), Asian Continental Ancestry Group (genetics), Case-Control Studies, Cohort Studies, Female, Heterozygote, Humans, LRRK2, Male, Middle Aged, Nervous system diseases, Parkinson Disease (epidemiology), Parkinson Disease (genetics), Parkinson disease, Parkinson's disease, Pathogenicity, Phenotype, Polymorphism, Genetic, Prevalence, Protein-Serine-Threonine Kinases (genetics), Risk Factors, Singapore (epidemiology), variant.
- MESH :
- chemical , genetics : Protein-Serine-Threonine Kinases.
- geographic , epidemiology : Singapore.
- epidemiology : Parkinson Disease.
- genetics : Amino Acid Substitution, Asian Continental Ancestry Group, Parkinson Disease.
- Aged, Aged, 80 and over, Case-Control Studies, Cohort Studies, Female, Heterozygote, Humans, Male, Middle Aged, Phenotype, Polymorphism, Genetic, Prevalence, Risk Factors.
Abstract
A heterozygous 2264C→T variant (P755L) in LRRK2 gene has been reported to be a likely pathogenic variant among ethnic Chinese patients with Parkinson's disease (PD). In a case control study, we performed genetic analysis of the P755L variant in an independent cohort of Chinese patients with PD and controls. The P755L variant was present in 4/204 (2.0%) of PD compared with 6/235 (2.6%) of controls (odds ratio = 0.76, 95% CI 0.23, 2.6, P = 0.76). All subjects carried the heterozygous genotype. Subset analysis in the group ≥65 years of age revealed a prevalence of 2.8% in PD compared with 3.1% in controls (odds ratio = 0.92, 95% CI 022, 3.7, P = 0.9), and in the group <65 years of age showed a 0% in PD versus 2.1% in controls (P = 0.2). The phenotype of patients with PD with the P755L variant was generally similar to other patients with PD and none of the carriers reported a positive family history. The lack of functional data, absence of segregation of the variant with disease, and the presence of the variant in apparently healthy individuals suggest that P755L is possibly a rare polymorphism in the Chinese population. Further validation of our findings in other populations would be important. © 2008 Movement Disorder Society
Url:
DOI: 10.1002/mds.21852
Affiliations:
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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2008-04-15">2008-04-15</date><biblScope unit="vol">23</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="734">734</biblScope><biblScope unit="page" to="736">736</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">D40516CC53E3E05DCC247B1AB3ECD813CAD4ECD0</idno><idno type="DOI">10.1002/mds.21852</idno><idno type="ArticleID">MDS21852</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Aged, 80 and over</term><term>Amino Acid Substitution (genetics)</term><term>Asian Continental Ancestry Group (genetics)</term><term>Case-Control Studies</term><term>Cohort Studies</term><term>Female</term><term>Heterozygote</term><term>Humans</term><term>LRRK2</term><term>Male</term><term>Middle Aged</term><term>Nervous system diseases</term><term>Parkinson Disease (epidemiology)</term><term>Parkinson Disease (genetics)</term><term>Parkinson disease</term><term>Parkinson's disease</term><term>Pathogenicity</term><term>Phenotype</term><term>Polymorphism, Genetic</term><term>Prevalence</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Risk Factors</term><term>Singapore (epidemiology)</term><term>variant</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein-Serine-Threonine Kinases</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Singapore</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Amino Acid Substitution</term><term>Asian Continental Ancestry Group</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Aged, 80 and over</term><term>Case-Control Studies</term><term>Cohort Studies</term><term>Female</term><term>Heterozygote</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Phenotype</term><term>Polymorphism, Genetic</term><term>Prevalence</term><term>Risk Factors</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Maladie de Parkinson</term><term>Pathologie du système nerveux</term><term>Pouvoir pathogène</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Singapour</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">A heterozygous 2264C→T variant (P755L) in LRRK2 gene has been reported to be a likely pathogenic variant among ethnic Chinese patients with Parkinson's disease (PD). In a case control study, we performed genetic analysis of the P755L variant in an independent cohort of Chinese patients with PD and controls. The P755L variant was present in 4/204 (2.0%) of PD compared with 6/235 (2.6%) of controls (odds ratio = 0.76, 95% CI 0.23, 2.6, P = 0.76). All subjects carried the heterozygous genotype. Subset analysis in the group ≥65 years of age revealed a prevalence of 2.8% in PD compared with 3.1% in controls (odds ratio = 0.92, 95% CI 022, 3.7, P = 0.9), and in the group <65 years of age showed a 0% in PD versus 2.1% in controls (P = 0.2). The phenotype of patients with PD with the P755L variant was generally similar to other patients with PD and none of the carriers reported a positive family history. The lack of functional data, absence of segregation of the variant with disease, and the presence of the variant in apparently healthy individuals suggest that P755L is possibly a rare polymorphism in the Chinese population. Further validation of our findings in other populations would be important. © 2008 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Singapour</li></country></list><tree><country name="Singapour"><noRegion><name sortKey="Tan, Eng Ing" sort="Tan, Eng Ing" uniqKey="Tan E" first="Eng-King" last="Tan">Eng-King Tan</name></noRegion><name sortKey="Lim, Hui In" sort="Lim, Hui In" uniqKey="Lim H" first="Hui-Qin" last="Lim">Hui-Qin Lim</name><name sortKey="Tan, Eng Ing" sort="Tan, Eng Ing" uniqKey="Tan E" first="Eng-King" last="Tan">Eng-King Tan</name><name sortKey="Tan, Eng Ing" sort="Tan, Eng Ing" uniqKey="Tan E" first="Eng-King" last="Tan">Eng-King Tan</name><name sortKey="Yuen, Yih" sort="Yuen, Yih" uniqKey="Yuen Y" first="Yih" last="Yuen">Yih Yuen</name><name sortKey="Zhao, Yi" sort="Zhao, Yi" uniqKey="Zhao Y" first="Yi" last="Zhao">Yi Zhao</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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