Genetic analysis of Parkin in early onset Parkinson's disease (PD): Novel intron 9 g > a single nucleotide polymorphism and risk of Taiwanese PD
Identifieur interne : 000705 ( Main/Exploration ); précédent : 000704; suivant : 000706Genetic analysis of Parkin in early onset Parkinson's disease (PD): Novel intron 9 g > a single nucleotide polymorphism and risk of Taiwanese PD
Auteurs : Yih-Ru Wu [Taïwan] ; Chun-Hsien Wu [Taïwan] ; Chih-Ying Chao [Taïwan] ; Chun-Chieh Kuan [Taïwan] ; Wan-Ling Zhang [Taïwan] ; Cheng-Kuang Wang [Taïwan] ; Chun-Yuh Chang [Taïwan] ; Yi-Chun Chang [Taïwan] ; Guey-Jen Lee-Chen [Taïwan] ; Chung-Mei Chen [Taïwan]Source :
- American Journal of Medical Genetics Part B: Neuropsychiatric Genetics [ 1552-4841 ] ; 2010-01.
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Abstract
Early onset Parkinson's disease (PD) has been associated with mutations in Parkin. We screened Parkin mutations in a cohort of Taiwanese early onset PD using direct cDNA sequencing. Two deletions (Ex2‐3del and Ex5del), one point mutation (R334C), one 86‐bp IVS9 insertion (c.1084intron+), and two polymorphisms (S167N and V380L) were identified. The mutations identified are heterozygous and none of the mutation carriers possess two Parkin mutations. The c.1084intron+ was due to a novel IVS9 g > a change. To assess the association of IVS9 g > a, S167N and V380L with the risk of PD, we conducted a case–control study in a cohort of PD and ethnically matched controls. Although the difference is not significant, the V380L C allele frequency was notably lower in PD patients than the controls and a trend toward decrease in risk of developing PD was evident (odds ratio: 0.71, 95% confidence interval: 0.53–0.97, P = 0.029). Contrarily the IVS9 g > a a allele frequency was notably higher in PD patients than the controls and a trend toward increase in risk of developing PD was also evident (odds ratio: 1.65, 95% confidence interval: 1.06–2.59, P = 0.028). Quantitative real‐time PCR showed that the relative Parkin c.1084intron+ mRNA expression was increased in PD patients with IVS9 ga genotype as compared to gg genotype. Pairwise genotype analysis revealed that IVS9 gg genotype strengthens the negative association of the V380L GC genotype with PD (odds ratio: 0.67, 95% confidence interval: 0.48–0.94, P = 0.021). The results of Parkin mutation/polymorphism screening may contribute to our understanding of PD. © 2009 Wiley‐Liss, Inc.
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DOI: 10.1002/ajmg.b.30977
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Zhang</name><affiliation wicri:level="1"><country xml:lang="fr">Taïwan</country><wicri:regionArea>Department of Life Science, National Taiwan Normal University, Taipei</wicri:regionArea><wicri:noRegion>Taipei</wicri:noRegion></affiliation></author><author><name sortKey="Wang, Cheng Uang" sort="Wang, Cheng Uang" uniqKey="Wang C" first="Cheng-Kuang" last="Wang">Cheng-Kuang Wang</name><affiliation wicri:level="1"><country xml:lang="fr">Taïwan</country><wicri:regionArea>Department of Laboratory Medicine, Jen‐Teh Junior College of Medicine, Nursing and Management, Miaoli</wicri:regionArea><wicri:noRegion>Miaoli</wicri:noRegion></affiliation></author><author><name sortKey="Chang, Chun Uh" sort="Chang, Chun Uh" uniqKey="Chang C" first="Chun-Yuh" last="Chang">Chun-Yuh Chang</name><affiliation wicri:level="1"><country xml:lang="fr">Taïwan</country><wicri:regionArea>National Hsin Chuang Senior High School, 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We screened Parkin mutations in a cohort of Taiwanese early onset PD using direct cDNA sequencing. Two deletions (Ex2‐3del and Ex5del), one point mutation (R334C), one 86‐bp IVS9 insertion (c.1084intron+), and two polymorphisms (S167N and V380L) were identified. The mutations identified are heterozygous and none of the mutation carriers possess two Parkin mutations. The c.1084intron+ was due to a novel IVS9 g > a change. To assess the association of IVS9 g > a, S167N and V380L with the risk of PD, we conducted a case–control study in a cohort of PD and ethnically matched controls. Although the difference is not significant, the V380L C allele frequency was notably lower in PD patients than the controls and a trend toward decrease in risk of developing PD was evident (odds ratio: 0.71, 95% confidence interval: 0.53–0.97, P = 0.029). Contrarily the IVS9 g > a a allele frequency was notably higher in PD patients than the controls and a trend toward increase in risk of developing PD was also evident (odds ratio: 1.65, 95% confidence interval: 1.06–2.59, P = 0.028). Quantitative real‐time PCR showed that the relative Parkin c.1084intron+ mRNA expression was increased in PD patients with IVS9 ga genotype as compared to gg genotype. Pairwise genotype analysis revealed that IVS9 gg genotype strengthens the negative association of the V380L GC genotype with PD (odds ratio: 0.67, 95% confidence interval: 0.48–0.94, P = 0.021). The results of Parkin mutation/polymorphism screening may contribute to our understanding of PD. © 2009 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>Taïwan</li></country></list><tree><country name="Taïwan"><noRegion><name sortKey="Wu, Yih U" sort="Wu, Yih U" uniqKey="Wu Y" first="Yih-Ru" last="Wu">Yih-Ru Wu</name></noRegion><name sortKey="Chang, Chun Uh" sort="Chang, Chun Uh" uniqKey="Chang C" first="Chun-Yuh" last="Chang">Chun-Yuh Chang</name><name sortKey="Chang, Yi Hun" sort="Chang, Yi Hun" uniqKey="Chang Y" first="Yi-Chun" last="Chang">Yi-Chun Chang</name><name sortKey="Chao, Chih Ing" sort="Chao, Chih Ing" uniqKey="Chao C" first="Chih-Ying" last="Chao">Chih-Ying Chao</name><name sortKey="Chen, Chung Ei" sort="Chen, Chung Ei" uniqKey="Chen C" first="Chung-Mei" last="Chen">Chung-Mei Chen</name><name sortKey="Chen, Chung Ei" sort="Chen, Chung Ei" uniqKey="Chen C" first="Chung-Mei" last="Chen">Chung-Mei Chen</name><name sortKey="Kuan, Chun Hieh" sort="Kuan, Chun Hieh" uniqKey="Kuan C" first="Chun-Chieh" last="Kuan">Chun-Chieh Kuan</name><name sortKey="Lee Hen, Guey En" sort="Lee Hen, Guey En" uniqKey="Lee Hen G" first="Guey-Jen" last="Lee-Chen">Guey-Jen Lee-Chen</name><name sortKey="Lee Hen, Guey En" sort="Lee Hen, Guey En" uniqKey="Lee Hen G" first="Guey-Jen" last="Lee-Chen">Guey-Jen Lee-Chen</name><name sortKey="Wang, Cheng Uang" sort="Wang, Cheng Uang" uniqKey="Wang C" first="Cheng-Kuang" last="Wang">Cheng-Kuang Wang</name><name sortKey="Wu, Chun Sien" sort="Wu, Chun Sien" uniqKey="Wu C" first="Chun-Hsien" last="Wu">Chun-Hsien Wu</name><name sortKey="Zhang, Wan Ing" sort="Zhang, Wan Ing" uniqKey="Zhang W" first="Wan-Ling" last="Zhang">Wan-Ling Zhang</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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