LRRK2 R1628P variant is a risk factor of Parkinson's disease among Han-Chinese from mainland China.
Identifieur interne : 002773 ( Ncbi/Checkpoint ); précédent : 002772; suivant : 002774LRRK2 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 ; Xingkai An ; Yan Wu ; Wenjun Chen ; Jinhong Zhang ; Yingcheng Wang ; Yanming Xu ; Yingru Gou ; Guanggu Yuan ; Xueye Mao ; Rong PengSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2009.
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, Male, Middle Aged, Mutation (genetics), Parkinson Disease (genetics), Proline (genetics), Protein-Serine-Threonine Kinases (genetics), Young Adult.
- 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.
DOI: 10.1002/mds.22371
PubMed: 19672984
Affiliations:
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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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<author><name sortKey="Mao, Xueye" sort="Mao, Xueye" uniqKey="Mao X" first="Xueye" last="Mao">Xueye Mao</name>
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<term>Gene Frequency</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.</div>
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<name sortKey="Mao, Xueye" sort="Mao, Xueye" uniqKey="Mao X" first="Xueye" last="Mao">Xueye Mao</name>
<name sortKey="Peng, Rong" sort="Peng, Rong" uniqKey="Peng R" first="Rong" last="Peng">Rong Peng</name>
<name sortKey="Wang, Yingcheng" sort="Wang, Yingcheng" uniqKey="Wang Y" first="Yingcheng" last="Wang">Yingcheng Wang</name>
<name sortKey="Wu, Yan" sort="Wu, Yan" uniqKey="Wu Y" first="Yan" last="Wu">Yan Wu</name>
<name sortKey="Xu, Yanming" sort="Xu, Yanming" uniqKey="Xu Y" first="Yanming" last="Xu">Yanming Xu</name>
<name sortKey="Yuan, Guanggu" sort="Yuan, Guanggu" uniqKey="Yuan G" first="Guanggu" last="Yuan">Guanggu Yuan</name>
<name sortKey="Zhang, Jinhong" sort="Zhang, Jinhong" uniqKey="Zhang J" first="Jinhong" last="Zhang">Jinhong Zhang</name>
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