MovDisordV3, Main, Merge, bibRecord, 003752

Pathogenicity of LRRK2 P755L Variant in Parkinson's Disease

Identifieur interne : 003752 ( Main/Merge ); précédent : 003751; suivant : 003753

Pathogenicity 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.

RBID : Pascal:08-0247727

Descripteurs français

Pascal (Inist)
- Maladie de Parkinson, Pathologie du système nerveux, Pouvoir pathogène.

English descriptors

KwdEn :
- Nervous system diseases, Parkinson disease, Pathogenicity.

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.

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to stream PascalFrancis, to step Corpus: 001289
to stream PascalFrancis, to step Curation: 001A30
to stream PascalFrancis, to step Checkpoint: 001144

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Pascal:08-0247727

Le document en format XML

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<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.</div>
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<name sortKey="Lim, Hui Qin" sort="Lim, Hui Qin" uniqKey="Lim H" first="Hui-Qin" last="Lim">Hui-Qin Lim</name>
<name sortKey="Tan, Eng King" sort="Tan, Eng King" uniqKey="Tan E" first="Eng-King" last="Tan">Eng-King Tan</name>
<name sortKey="Tan, Eng King" sort="Tan, Eng King" uniqKey="Tan E" first="Eng-King" last="Tan">Eng-King Tan</name>
<name sortKey="Yi Zhao" sort="Yi Zhao" uniqKey="Yi Zhao" last="Yi Zhao">YI ZHAO</name>
<name sortKey="Yuen, Yih" sort="Yuen, Yih" uniqKey="Yuen Y" first="Yih" last="Yuen">Yih Yuen</name>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Pathogenicity of LRRK2 P755L Variant in Parkinson's Disease

Pathogenicity of LRRK2 P755L Variant in Parkinson's Disease

Source :

Descripteurs français

English descriptors

Abstract

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

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri