Skip to main content
Erschienen in: Neurological Sciences 11/2013

01.11.2013 | Original Article

Association between G2385R and R1628P polymorphism of LRRK2 gene and sporadic Parkinson’s disease in a Han-Chinese population in south-eastern China

verfasst von: Jiangping Cai, Yi Lin, Wanjin Chen, Qifang Lin, Bin Cai, Ning Wang, Weihong Zheng

Erschienen in: Neurological Sciences | Ausgabe 11/2013

Einloggen, um Zugang zu erhalten

Abstract

The G2385R and R1628P polymorphisms of the leucine-rich repeat kinase 2 (LRRK2) gene have been reported to be associated with Parkinson’s disease (PD), but no data are available on Han-Chinese population of south-eastern China. This study aimed to investigate whether G2385R and R1628P variants are associated with sporadic PD in this population. Total 1,060 subjects were enrolled; including 550 unrelated healthy controls and 510 patients with sporadic PD. Genotyping of polymorphisms was performed by PCR–restriction fragment length polymorphism analysis. All variant samples were sequenced for further confirmation. The results showed that the A allele of the G2385R variant was significantly enriched in sporadic PD patient group (4.8 %) when compared with control group [1.1 %; odds ratio (OR) 4.58, 95 % confidence interval (CI) 2.42–8.65, P < 0.01]. However, no significant difference in the frequency of the C allele of R1628P polymorphism variant was observed between cases and controls (2.8 vs. 1.7 %, OR 1.67, 95 % CI 0.93–2.99, P = 0.08). In conclusion, this study provides the first evidence that G2385R polymorphism is a risk factor for sporadic PD in Han-Chinese population of south-eastern China.
Literatur
2.
Zurück zum Zitat Mata IF, Wedemeyer WJ, Farrer MJ, Taylor JP, Gallo KA (2006) Lrrk2 in Parkinson’s disease: protein domains and functional insights. Trends Neurosci 29:286–293PubMedCrossRef Mata IF, Wedemeyer WJ, Farrer MJ, Taylor JP, Gallo KA (2006) Lrrk2 in Parkinson’s disease: protein domains and functional insights. Trends Neurosci 29:286–293PubMedCrossRef
3.
Zurück zum Zitat Ng CH, Mok SZ, Koh C et al (2009) Parkin protects against lrrk2 G2019S mutant-induced dopaminergic neurodegeneration in drosophila. J Neurosci 29:11257–11262PubMedCrossRef Ng CH, Mok SZ, Koh C et al (2009) Parkin protects against lrrk2 G2019S mutant-induced dopaminergic neurodegeneration in drosophila. J Neurosci 29:11257–11262PubMedCrossRef
4.
Zurück zum Zitat van Egmond WN, Kortholt A, Plak K et al (2008) Intramolecular activation mechanism of the dictyostelium lrrk2 homolog roco protein gbpc. J Biol Chem 283:30412–30420PubMedCrossRef van Egmond WN, Kortholt A, Plak K et al (2008) Intramolecular activation mechanism of the dictyostelium lrrk2 homolog roco protein gbpc. J Biol Chem 283:30412–30420PubMedCrossRef
5.
Zurück zum Zitat Tan EK, Tan LC, Lim HQ et al (2008) Lrrk2 R1628P increases risk of Parkinson’s disease: replication evidence. Hum Genet 124:287–288PubMedCrossRef Tan EK, Tan LC, Lim HQ et al (2008) Lrrk2 R1628P increases risk of Parkinson’s disease: replication evidence. Hum Genet 124:287–288PubMedCrossRef
6.
Zurück zum Zitat Lesage S, Durr A, Tazir M et al (2006) Lrrk2 G2019S as a cause of Parkinson’s disease in North African Arabs. N Engl J Med 354:422–423PubMedCrossRef Lesage S, Durr A, Tazir M et al (2006) Lrrk2 G2019S as a cause of Parkinson’s disease in North African Arabs. N Engl J Med 354:422–423PubMedCrossRef
7.
Zurück zum Zitat Ozelius LJ, Senthil G, Saunders-Pullman R et al (2006) Lrrk2 G2019S as a cause of Parkinson’s disease in Ashkenazi Jews. N Engl J Med 354:424–425PubMedCrossRef Ozelius LJ, Senthil G, Saunders-Pullman R et al (2006) Lrrk2 G2019S as a cause of Parkinson’s disease in Ashkenazi Jews. N Engl J Med 354:424–425PubMedCrossRef
8.
Zurück zum Zitat Hu ZX, Peng DT, Cai M et al (2011) A study of six point mutation analysis of LRRK2 gene in Chinese mainland patients with Parkinson’s disease. Neurol Sci 32:741–742PubMedCrossRef Hu ZX, Peng DT, Cai M et al (2011) A study of six point mutation analysis of LRRK2 gene in Chinese mainland patients with Parkinson’s disease. Neurol Sci 32:741–742PubMedCrossRef
9.
Zurück zum Zitat Tan EK, Zhao Y, Skipper L et al (2007) The lrrk2 Gly2385Arg variant is associated with Parkinson’s disease: genetic and functional evidence. Hum Genet 120:857–863PubMedCrossRef Tan EK, Zhao Y, Skipper L et al (2007) The lrrk2 Gly2385Arg variant is associated with Parkinson’s disease: genetic and functional evidence. Hum Genet 120:857–863PubMedCrossRef
10.
Zurück zum Zitat Ross OA, Wu YR, Lee MC et al (2008) Analysis of lrrk2 R1628P as a risk factor for Parkinson’s disease. Ann Neurol 64:88–92PubMedCrossRef Ross OA, Wu YR, Lee MC et al (2008) Analysis of lrrk2 R1628P as a risk factor for Parkinson’s disease. Ann Neurol 64:88–92PubMedCrossRef
11.
Zurück zum Zitat Zheng Y, Liu Y, Wu Q et al (2011) Confirmation of lrrk2 S1647T variant as a risk factor for parkinson’s disease in southern China. Eur J Neurol 18:538–540PubMedCrossRef Zheng Y, Liu Y, Wu Q et al (2011) Confirmation of lrrk2 S1647T variant as a risk factor for parkinson’s disease in southern China. Eur J Neurol 18:538–540PubMedCrossRef
12.
Zurück zum Zitat Chen L, Zhang S, Liu Y et al (2011) Lrrk2 R1398H polymorphism is associated with decreased risk of Parkinson’s disease in a Han Chinese population. Parkinsonism Relat Disord 17:291–292PubMedCrossRef Chen L, Zhang S, Liu Y et al (2011) Lrrk2 R1398H polymorphism is associated with decreased risk of Parkinson’s disease in a Han Chinese population. Parkinsonism Relat Disord 17:291–292PubMedCrossRef
13.
Zurück zum Zitat An XK, Peng R, Li T et al (2008) Lrrk2 Gly2385Arg variant is a risk factor of parkinson’s disease among Han-Chinese from mainland China. Eur J Neurol 15:301–305PubMedCrossRef An XK, Peng R, Li T et al (2008) Lrrk2 Gly2385Arg variant is a risk factor of parkinson’s disease among Han-Chinese from mainland China. Eur J Neurol 15:301–305PubMedCrossRef
14.
Zurück zum Zitat Li C, Ting Z, Qin X et al (2007) The prevalence of lrrk2 Gly2385Arg variant in Chinese Han population with Parkinson’s disease. Mov Disord 22:2439–2443PubMedCrossRef Li C, Ting Z, Qin X et al (2007) The prevalence of lrrk2 Gly2385Arg variant in Chinese Han population with Parkinson’s disease. Mov Disord 22:2439–2443PubMedCrossRef
15.
Zurück zum Zitat Zhou Y, Luo X, Li F et al (2012) Association of Parkinson’s disease with six single nucleotide polymorphisms located in four PARK genes in the Northern Han Chinese population. J Clin Neurosci. 19:1011–1015PubMedCrossRef Zhou Y, Luo X, Li F et al (2012) Association of Parkinson’s disease with six single nucleotide polymorphisms located in four PARK genes in the Northern Han Chinese population. J Clin Neurosci. 19:1011–1015PubMedCrossRef
16.
Zurück zum Zitat Lu CS, Wu-Chou YH, van Doeselaar M et al (2008) The lrrk2 Arg1628Pro variant is a risk factor for Parkinson’s disease in the Chinese population. Neurogenetics 9:271–276PubMedCrossRef Lu CS, Wu-Chou YH, van Doeselaar M et al (2008) The lrrk2 Arg1628Pro variant is a risk factor for Parkinson’s disease in the Chinese population. Neurogenetics 9:271–276PubMedCrossRef
17.
Zurück zum Zitat Yu L, Hu F, Zou X et al (2009) Lrrk2 R1628P contributes to Parkinson’s disease susceptibility in Chinese Han populations from mainland China. Brain Res 1296:113–116PubMedCrossRef Yu L, Hu F, Zou X et al (2009) Lrrk2 R1628P contributes to Parkinson’s disease susceptibility in Chinese Han populations from mainland China. Brain Res 1296:113–116PubMedCrossRef
18.
Zurück zum Zitat Zhang Z, Burgunder JM, An X et al (2009) Lrrk2 R1628P variant is a risk factor of Parkinson’s disease among Han-Chinese from mainland China. Mov Disord 24:1902–1905PubMedCrossRef Zhang Z, Burgunder JM, An X et al (2009) Lrrk2 R1628P variant is a risk factor of Parkinson’s disease among Han-Chinese from mainland China. Mov Disord 24:1902–1905PubMedCrossRef
19.
Zurück zum Zitat Zabetian CP, Yamamoto M, Lopez AN et al (2009) Lrrk2 mutations and risk variants in Japanese patients with Parkinson’s disease. Mov Disord 24:1034–1041PubMedCrossRef Zabetian CP, Yamamoto M, Lopez AN et al (2009) Lrrk2 mutations and risk variants in Japanese patients with Parkinson’s disease. Mov Disord 24:1034–1041PubMedCrossRef
20.
Zurück zum Zitat Kim JM, Lee JY, Kim HJ et al (2010) The lrrk2 G2385R variant is a risk factor for sporadic Parkinson’s disease in the korean population. Parkinsonism Relat Disord 16:85–88PubMedCrossRef Kim JM, Lee JY, Kim HJ et al (2010) The lrrk2 G2385R variant is a risk factor for sporadic Parkinson’s disease in the korean population. Parkinsonism Relat Disord 16:85–88PubMedCrossRef
21.
Zurück zum Zitat Tan EK, Zhao Y, Tan L et al (2007) Analysis of lrrk2 Gly2385Arg genetic variant in non-Chinese Asians. Mov Disord 22:1816–1818PubMedCrossRef Tan EK, Zhao Y, Tan L et al (2007) Analysis of lrrk2 Gly2385Arg genetic variant in non-Chinese Asians. Mov Disord 22:1816–1818PubMedCrossRef
22.
Zurück zum Zitat Tan EK, Tang M, Tan LC et al (2008) Lrrk2 R1628P in non-Chinese Asian races. Ann Neurol 64:472–473PubMedCrossRef Tan EK, Tang M, Tan LC et al (2008) Lrrk2 R1628P in non-Chinese Asian races. Ann Neurol 64:472–473PubMedCrossRef
23.
Zurück zum Zitat Papapetropoulos S, Adi N, Shehadeh L et al (2008) Is the G2019S lrrk2 mutation common in all southern European populations? J Clin Neurosci 15:1027–1030PubMedCrossRef Papapetropoulos S, Adi N, Shehadeh L et al (2008) Is the G2019S lrrk2 mutation common in all southern European populations? J Clin Neurosci 15:1027–1030PubMedCrossRef
24.
Zurück zum Zitat Chen J, Zheng H, Bei JX et al (2009) Genetic structure of the Han Chinese population revealed by genome-wide snp variation. Am J Hum Genet 85:775–785PubMedCrossRef Chen J, Zheng H, Bei JX et al (2009) Genetic structure of the Han Chinese population revealed by genome-wide snp variation. Am J Hum Genet 85:775–785PubMedCrossRef
25.
Zurück zum Zitat Ross OA, Soto-Ortolaza AI, Heckman MG et al (2011) Association of lrrk2 exonic variants with susceptibility to Parkinson’s disease: a case-control study. Lancet Neurol 10:898–908PubMedCrossRef Ross OA, Soto-Ortolaza AI, Heckman MG et al (2011) Association of lrrk2 exonic variants with susceptibility to Parkinson’s disease: a case-control study. Lancet Neurol 10:898–908PubMedCrossRef
26.
Zurück zum Zitat Tan EK, Peng R, Teo YY et al (2010) Multiple LRRK2 variants modulate risk of Parkinson disease: a Chinese multicenter study. Hum Mutat 31:561–568PubMed Tan EK, Peng R, Teo YY et al (2010) Multiple LRRK2 variants modulate risk of Parkinson disease: a Chinese multicenter study. Hum Mutat 31:561–568PubMed
27.
Zurück zum Zitat Lin CH, Wu RM, Tai CH et al (2011) Lrrk2 S1647T and BDNF V66 M interact with environmental factors to increase risk of Parkinson’s disease. Parkinsonism Relat Disord 17:84–88PubMedCrossRef Lin CH, Wu RM, Tai CH et al (2011) Lrrk2 S1647T and BDNF V66 M interact with environmental factors to increase risk of Parkinson’s disease. Parkinsonism Relat Disord 17:84–88PubMedCrossRef
Metadaten
Titel
Association between G2385R and R1628P polymorphism of LRRK2 gene and sporadic Parkinson’s disease in a Han-Chinese population in south-eastern China
verfasst von
Jiangping Cai
Yi Lin
Wanjin Chen
Qifang Lin
Bin Cai
Ning Wang
Weihong Zheng
Publikationsdatum
01.11.2013
Verlag
Springer Milan
Erschienen in
Neurological Sciences / Ausgabe 11/2013
Print ISSN: 1590-1874
Elektronische ISSN: 1590-3478
DOI
https://doi.org/10.1007/s10072-013-1436-3

Weitere Artikel der Ausgabe 11/2013

Neurological Sciences 11/2013 Zur Ausgabe

Leitlinien kompakt für die Neurologie

Mit medbee Pocketcards sicher entscheiden.

Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag

Nicht Creutzfeldt Jakob, sondern Abführtee-Vergiftung

29.05.2024 Hyponatriämie Nachrichten

Eine ältere Frau trinkt regelmäßig Sennesblättertee gegen ihre Verstopfung. Der scheint plötzlich gut zu wirken. Auf Durchfall und Erbrechen folgt allerdings eine Hyponatriämie. Nach deren Korrektur kommt es plötzlich zu progredienten Kognitions- und Verhaltensstörungen.

Schutz der Synapsen bei Alzheimer

29.05.2024 Morbus Alzheimer Nachrichten

Mit einem Neurotrophin-Rezeptor-Modulator lässt sich möglicherweise eine bestehende Alzheimerdemenz etwas abschwächen: Erste Phase-2-Daten deuten auf einen verbesserten Synapsenschutz.

Sozialer Aufstieg verringert Demenzgefahr

24.05.2024 Demenz Nachrichten

Ein hohes soziales Niveau ist mit die beste Versicherung gegen eine Demenz. Noch geringer ist das Demenzrisiko für Menschen, die sozial aufsteigen: Sie gewinnen fast zwei demenzfreie Lebensjahre. Umgekehrt steigt die Demenzgefahr beim sozialen Abstieg.

Hirnblutung unter DOAK und VKA ähnlich bedrohlich

17.05.2024 Direkte orale Antikoagulanzien Nachrichten

Kommt es zu einer nichttraumatischen Hirnblutung, spielt es keine große Rolle, ob die Betroffenen zuvor direkt wirksame orale Antikoagulanzien oder Marcumar bekommen haben: Die Prognose ist ähnlich schlecht.

Update Neurologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.