LRRK2 R1628P variant is a risk factor of Parkinson's disease among Han‐Chinese from mainland China
Identifieur interne : 002239 ( Main/Exploration ); précédent : 002238; suivant : 002240LRRK2 R1628P variant is a risk factor of Parkinson's disease among Han‐Chinese from mainland China
Auteurs : Zijuan Zhang [République populaire de Chine] ; Jean-Marc Burgunder [République populaire de Chine, Suisse, Singapour] ; Xingkai An [République populaire de Chine] ; Yan Wu [République populaire de Chine] ; Wenjun Chen [République populaire de Chine] ; Jinhong Zhang [République populaire de Chine] ; Yingcheng Wang [République populaire de Chine] ; Yanming Xu [République populaire de Chine] ; Yingru Gou [République populaire de Chine] ; Guanggu Yuan [République populaire de Chine] ; Xueye Mao [République populaire de Chine] ; Rong Peng [République populaire de Chine]Source :
- Movement Disorders [ 0885-3185 ] ; 2009-10-15.
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Aged, 80 and over, Arginine (genetics), Asian Continental Ancestry Group (ethnology), DNA Mutational Analysis (methods), Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, LRRK2, Male, Middle Aged, Mutation (genetics), Parkinson Disease (genetics), Parkinson's disease, Proline (genetics), Protein-Serine-Threonine Kinases (genetics), R1628P, Young Adult, variant.
- MESH :
- chemical , genetics : Arginine, Proline, Protein-Serine-Threonine Kinases.
- ethnology : Asian Continental Ancestry Group.
- genetics : Mutation, Parkinson Disease.
- methods : DNA Mutational Analysis.
- Adolescent, Adult, Aged, Aged, 80 and over, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Young Adult.
Abstract
Mutations in LRRK2, the gene that encodes leucine‐rich repeat kinase 2 (LRRK2), are associated with autosomal dominant and sporadic forms of Parkinson's disease (PD) and are the most common genetic causes of PD. Recently, a R1628P variant has been reported as a risk factor for PD in Taiwan and Singapore. To determine the association of this variant and PD in the Han‐Chinese population from mainland China, we analyzed its frequency in a cohort of 600 patients and 459 unrelated healthy controls. Forty (6.7%) patients were heterozygous and 3 (0.5%) homozygous for the R1628P variant, which was significantly more frequent than in the controls [2.4% heterozygous and 0.0% homozygous, Odds ratio = 3.14, 95%CI: 1.60–6.17, P < 0.01]. Considering the age at onset, this difference was found only in late‐onset PD (older than 50) [Odds ratio = 3.76, 95% CI: 1.90–7.45, P < 0.01]. Our data confirms that the LRRK2 R1628P variant is associated with an increased risk to develop late onset PD in the ethnic Han‐Chinese population. © 2009 Movement Disorder Society
Url:
DOI: 10.1002/mds.22371
Affiliations:
- République populaire de Chine, Singapour, Suisse
- Canton de Berne
- Berne
- Université de Berne, Université nationale de Singapour
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Le document en format XML
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<author><name sortKey="Wang, Yingcheng" sort="Wang, Yingcheng" uniqKey="Wang Y" first="Yingcheng" last="Wang">Yingcheng Wang</name>
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<author><name sortKey="Yuan, Guanggu" sort="Yuan, Guanggu" uniqKey="Yuan G" first="Guanggu" last="Yuan">Guanggu Yuan</name>
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<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Arginine (genetics)</term>
<term>Asian Continental Ancestry Group (ethnology)</term>
<term>DNA Mutational Analysis (methods)</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genetic Predisposition to Disease</term>
<term>Genotype</term>
<term>Humans</term>
<term>LRRK2</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation (genetics)</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson's disease</term>
<term>Proline (genetics)</term>
<term>Protein-Serine-Threonine Kinases (genetics)</term>
<term>R1628P</term>
<term>Young Adult</term>
<term>variant</term>
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<front><div type="abstract" xml:lang="en">Mutations in LRRK2, the gene that encodes leucine‐rich repeat kinase 2 (LRRK2), are associated with autosomal dominant and sporadic forms of Parkinson's disease (PD) and are the most common genetic causes of PD. Recently, a R1628P variant has been reported as a risk factor for PD in Taiwan and Singapore. To determine the association of this variant and PD in the Han‐Chinese population from mainland China, we analyzed its frequency in a cohort of 600 patients and 459 unrelated healthy controls. Forty (6.7%) patients were heterozygous and 3 (0.5%) homozygous for the R1628P variant, which was significantly more frequent than in the controls [2.4% heterozygous and 0.0% homozygous, Odds ratio = 3.14, 95%CI: 1.60–6.17, P < 0.01]. Considering the age at onset, this difference was found only in late‐onset PD (older than 50) [Odds ratio = 3.76, 95% CI: 1.90–7.45, P < 0.01]. Our data confirms that the LRRK2 R1628P variant is associated with an increased risk to develop late onset PD in the ethnic Han‐Chinese population. © 2009 Movement Disorder Society</div>
</front>
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<name sortKey="Zhang, Jinhong" sort="Zhang, Jinhong" uniqKey="Zhang J" first="Jinhong" last="Zhang">Jinhong Zhang</name>
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<country name="Suisse"><region name="Canton de Berne"><name sortKey="Burgunder, Jean Arc" sort="Burgunder, Jean Arc" uniqKey="Burgunder J" first="Jean-Marc" last="Burgunder">Jean-Marc Burgunder</name>
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