Skip to main content
Erschienen in: Neurological Sciences 9/2022

13.06.2022 | Original Article

Polymorphism of neurodegeneration-related genes associated with Parkinson’s disease risk

verfasst von: Jiaxin Li, Minhan Yi, Binbin Li, Shujuan Yin, Ying Zhang, Zini Huang, Li Shu, Yuan Zhang

Erschienen in: Neurological Sciences | Ausgabe 9/2022

Einloggen, um Zugang zu erhalten

Abstract

Background

Neurodegenerative genes are critical in neuronal loss in Parkinson’s disease (PD). We performed a systematic meta-analysis including all the studies published on PD risk related to genes encoding enzymes vital for dopamine metabolism and neuron survival.

Methods

We included neurodegeneration-related genes which were divided into four groups according to their functions: main enzymes in dopamine metabolism, receptors and transporters for dopamine or other metabolites, neuroprotective factors for dopaminergic neurons, and genes associated with dopaminergic neurons survival reported in other neurological diseases. We collected original articles from PubMed, Embase, and Web of Science databases. Revman 5.3 software was used to analyze data. The allele model (AM) was used to test the effect size of the effect allele between the case group and the control group and secondary analysis using the dominant model (DM) and recessive model (RM) to analyze the contributions from heterozygote and homozygote to the allele risk. Odds ratio (OR) and 95% confidence interval (CI) were used to present the pooled results.

Results

We included 31 variants in 20 genes for the final pooled analysis. Consequently, SLC6A4/5-HTT HTTLPR, BDNF rs56164415, FGF20 rs1721100, PARK16 rs823128, rs823156, rs947211, APOE e2, A2M rs669, RIT2 rs12456492, MAPT intron 9 H1H2, and STH rs62063857 variants were statistically associated with PD risk while researched variants in COMT, DBH, MAO, DAT/SLC6A3, DRD2, GRIN2B, GSK3β, ATP13A2, LINGO1, PICALM, and GRN were not related to PD risk.

Conclusion

Several variants from neurodegeneration-related genes are associated with PD risk, which may help deepen the understanding of PD pathogenesis and improve clinical treatment strategies.
Anhänge
Nur mit Berechtigung zugänglich
Literatur
1.
Zurück zum Zitat Lew M (2007) Overview of Parkinson’s disease. Pharmacotherapy 27(12 Pt 2):155s–160sCrossRef Lew M (2007) Overview of Parkinson’s disease. Pharmacotherapy 27(12 Pt 2):155s–160sCrossRef
2.
Zurück zum Zitat Chinta SJ, Andersen JK (2005) Dopaminergic neurons. Int J Biochem Cell Biol 37(5):942–946CrossRef Chinta SJ, Andersen JK (2005) Dopaminergic neurons. Int J Biochem Cell Biol 37(5):942–946CrossRef
3.
Zurück zum Zitat Miller DB, O’Callaghan JP (2015) Biomarkers of Parkinson’s disease: present and future. Metabolism 64(3 Suppl 1):S40–S46CrossRef Miller DB, O’Callaghan JP (2015) Biomarkers of Parkinson’s disease: present and future. Metabolism 64(3 Suppl 1):S40–S46CrossRef
4.
Zurück zum Zitat Costa P et al (1997) Association of a polymorphism in intron 13 of the monoamine oxidase B gene with Parkinson disease. Am J Med Genet 74(2):154–156CrossRef Costa P et al (1997) Association of a polymorphism in intron 13 of the monoamine oxidase B gene with Parkinson disease. Am J Med Genet 74(2):154–156CrossRef
5.
Zurück zum Zitat Rush RA, Geffen LB (1980) Dopamine beta-hydroxylase in health and disease. Crit Rev Clin Lab Sci 12(3):241–277CrossRef Rush RA, Geffen LB (1980) Dopamine beta-hydroxylase in health and disease. Crit Rev Clin Lab Sci 12(3):241–277CrossRef
7.
Zurück zum Zitat Liu Y et al (2021) FGF, mechanism of action, role in Parkinson’s disease, and therapeutics. Front Pharmacol 12:675725CrossRef Liu Y et al (2021) FGF, mechanism of action, role in Parkinson’s disease, and therapeutics. Front Pharmacol 12:675725CrossRef
8.
Zurück zum Zitat Paslawski W et al (2019) α-synuclein-lipoprotein interactions and elevated ApoE level in cerebrospinal fluid from Parkinson’s disease patients. Proc Natl Acad Sci U S A 116(30):15226–15235CrossRef Paslawski W et al (2019) α-synuclein-lipoprotein interactions and elevated ApoE level in cerebrospinal fluid from Parkinson’s disease patients. Proc Natl Acad Sci U S A 116(30):15226–15235CrossRef
9.
Zurück zum Zitat Zhou ZD, Sathiyamoorthy S, Tan EK (2012) LINGO-1 and neurodegeneration: pathophysiologic clues for essential tremor. Tremor Other Hyperkinet Mov (N Y), 2. Zhou ZD, Sathiyamoorthy S, Tan EK (2012) LINGO-1 and neurodegeneration: pathophysiologic clues for essential tremor. Tremor Other Hyperkinet Mov (N Y), 2.
10.
Zurück zum Zitat Hughes AJ et al (1992) Accuracy of clinical diagnosis of idiopathic Parkinson’s disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 55(3):181–184CrossRef Hughes AJ et al (1992) Accuracy of clinical diagnosis of idiopathic Parkinson’s disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 55(3):181–184CrossRef
11.
Zurück zum Zitat Postuma RB et al (2015) MDS clinical diagnostic criteria for Parkinson’s disease. Mov Disord 30(12):1591–1601CrossRef Postuma RB et al (2015) MDS clinical diagnostic criteria for Parkinson’s disease. Mov Disord 30(12):1591–1601CrossRef
12.
Zurück zum Zitat Lo CK, Mertz D, Loeb M (2014) Newcastle-Ottawa Scale: comparing reviewers’ to authors’ assessments. BMC Med Res Methodol 14:45CrossRef Lo CK, Mertz D, Loeb M (2014) Newcastle-Ottawa Scale: comparing reviewers’ to authors’ assessments. BMC Med Res Methodol 14:45CrossRef
13.
14.
Zurück zum Zitat Cacabelos R (2017) Parkinson’s disease: from pathogenesis to pharmacogenomics. Int J Mol Sci 18(3). Cacabelos R (2017) Parkinson’s disease: from pathogenesis to pharmacogenomics. Int J Mol Sci 18(3).
15.
Zurück zum Zitat Wang YC et al (2019) COMT Val158Met polymorphism and Parkinson’s disease risk: a pooled analysis in different populations. Neurol Res 41(4):319–325CrossRef Wang YC et al (2019) COMT Val158Met polymorphism and Parkinson’s disease risk: a pooled analysis in different populations. Neurol Res 41(4):319–325CrossRef
16.
Zurück zum Zitat Zhang Y et al (2016) A meta-analysis on relationship of MAOB intron 13 polymorphisms, interactions with smoking/COMT H158L polymorphisms with the risk of PD. Int J Neurosci 126(5):400–407CrossRef Zhang Y et al (2016) A meta-analysis on relationship of MAOB intron 13 polymorphisms, interactions with smoking/COMT H158L polymorphisms with the risk of PD. Int J Neurosci 126(5):400–407CrossRef
17.
Zurück zum Zitat Yin Y et al (2021) Association of COMT rs4680 and MAO-B rs1799836 polymorphisms with levodopa-induced dyskinesia in Parkinson’s disease-a meta-analysis. Neurol Sci 42(10):4085–4094CrossRef Yin Y et al (2021) Association of COMT rs4680 and MAO-B rs1799836 polymorphisms with levodopa-induced dyskinesia in Parkinson’s disease-a meta-analysis. Neurol Sci 42(10):4085–4094CrossRef
18.
Zurück zum Zitat Tang S et al (2018) Association of dopamine beta-hydroxylase polymorphisms with Alzheimer’s disease, Parkinson’s disease and Schizophrenia: evidence based on currently available loci. Cell Physiol Biochem 51(1):411–428CrossRef Tang S et al (2018) Association of dopamine beta-hydroxylase polymorphisms with Alzheimer’s disease, Parkinson’s disease and Schizophrenia: evidence based on currently available loci. Cell Physiol Biochem 51(1):411–428CrossRef
19.
Zurück zum Zitat Kang S et al (2018) Association of the rs1611115 polymorphism in DBH gene with Parkinson’s disease: a meta-analysis. Neurol Sci 39(12):2085–2089CrossRef Kang S et al (2018) Association of the rs1611115 polymorphism in DBH gene with Parkinson’s disease: a meta-analysis. Neurol Sci 39(12):2085–2089CrossRef
20.
Zurück zum Zitat Ghosh A et al (2019) Dopamine β Hydroxylase (DBH) is a potential modifier gene associated with Parkinson’s disease in Eastern India. Neurosci Lett 706:75–80CrossRef Ghosh A et al (2019) Dopamine β Hydroxylase (DBH) is a potential modifier gene associated with Parkinson’s disease in Eastern India. Neurosci Lett 706:75–80CrossRef
21.
Zurück zum Zitat Politis M, Loane C (2011) Serotonergic dysfunction in Parkinson’s disease and its relevance to disability. ScientificWorldJournal 11:1726–1734CrossRef Politis M, Loane C (2011) Serotonergic dysfunction in Parkinson’s disease and its relevance to disability. ScientificWorldJournal 11:1726–1734CrossRef
22.
Zurück zum Zitat Cheng P et al (2021) 5-HTTLPR polymorphism and depression risk in Parkinson’s disease: an updated meta-analysis. Acta Neurol Belg 121(4):933–940CrossRef Cheng P et al (2021) 5-HTTLPR polymorphism and depression risk in Parkinson’s disease: an updated meta-analysis. Acta Neurol Belg 121(4):933–940CrossRef
23.
Zurück zum Zitat McDonell KE et al (2018) Taq1A polymorphism and medication effects on inhibitory action control in Parkinson disease. Brain Behav 8(7):e01008CrossRef McDonell KE et al (2018) Taq1A polymorphism and medication effects on inhibitory action control in Parkinson disease. Brain Behav 8(7):e01008CrossRef
24.
Zurück zum Zitat Lee JY et al (2009) Association of DRD3 and GRIN2B with impulse control and related behaviors in Parkinson’s disease. Mov Disord 24(12):1803–1810CrossRef Lee JY et al (2009) Association of DRD3 and GRIN2B with impulse control and related behaviors in Parkinson’s disease. Mov Disord 24(12):1803–1810CrossRef
25.
Zurück zum Zitat Zainal Abidin S et al (2015) DRD and GRIN2B polymorphisms and their association with the development of impulse control behaviour among Malaysian Parkinson’s disease patients. BMC Neurol 15:59CrossRef Zainal Abidin S et al (2015) DRD and GRIN2B polymorphisms and their association with the development of impulse control behaviour among Malaysian Parkinson’s disease patients. BMC Neurol 15:59CrossRef
26.
Zurück zum Zitat MacLeod DA et al (2013) RAB7L1 interacts with LRRK2 to modify intraneuronal protein sorting and Parkinson’s disease risk. Neuron 77(3):425–439CrossRef MacLeod DA et al (2013) RAB7L1 interacts with LRRK2 to modify intraneuronal protein sorting and Parkinson’s disease risk. Neuron 77(3):425–439CrossRef
27.
Zurück zum Zitat He T et al (2017) Association between PARK16 and Parkinson’s disease: a meta-analysis. Neurosci Lett 657:179–188CrossRef He T et al (2017) Association between PARK16 and Parkinson’s disease: a meta-analysis. Neurosci Lett 657:179–188CrossRef
28.
Zurück zum Zitat Gopalai AA et al (2016) PARK16 is associated with PD in the Malaysian population. Am J Med Genet B Neuropsychiatr Genet 171(6):839–847CrossRef Gopalai AA et al (2016) PARK16 is associated with PD in the Malaysian population. Am J Med Genet B Neuropsychiatr Genet 171(6):839–847CrossRef
29.
Zurück zum Zitat Miller KM, Mercado NM, Sortwell CE (2021) Synucleinopathy-associated pathogenesis in Parkinson’s disease and the potential for brain-derived neurotrophic factor. NPJ Parkinsons Dis 7(1):35CrossRef Miller KM, Mercado NM, Sortwell CE (2021) Synucleinopathy-associated pathogenesis in Parkinson’s disease and the potential for brain-derived neurotrophic factor. NPJ Parkinsons Dis 7(1):35CrossRef
30.
Zurück zum Zitat Pal P et al (2019) Role of apolipoprotein E, cathepsin D, and brain-derived neurotrophic factor in Parkinson’s disease: a study from Eastern India. Neuromolecular Med 21(3):287–294CrossRef Pal P et al (2019) Role of apolipoprotein E, cathepsin D, and brain-derived neurotrophic factor in Parkinson’s disease: a study from Eastern India. Neuromolecular Med 21(3):287–294CrossRef
31.
Zurück zum Zitat Itoh N, Ohta H (2013) Roles of FGF20 in dopaminergic neurons and Parkinson’s disease. Front Mol Neurosci 6:15CrossRef Itoh N, Ohta H (2013) Roles of FGF20 in dopaminergic neurons and Parkinson’s disease. Front Mol Neurosci 6:15CrossRef
32.
Zurück zum Zitat Ma ZG, Xu J, Liu TW (2015) Quantitative assessment of the association between fibroblast growth factor 20 rs1721100 C/G polymorphism and the risk of sporadic Parkinson’s diseases: a meta-analysis. Neurol Sci 36(1):47–51CrossRef Ma ZG, Xu J, Liu TW (2015) Quantitative assessment of the association between fibroblast growth factor 20 rs1721100 C/G polymorphism and the risk of sporadic Parkinson’s diseases: a meta-analysis. Neurol Sci 36(1):47–51CrossRef
33.
Zurück zum Zitat Fyfe I (2020) APOE(*)ε4 promotes synucleinopathy. Nat Rev Neurol 16(4):185CrossRef Fyfe I (2020) APOE(*)ε4 promotes synucleinopathy. Nat Rev Neurol 16(4):185CrossRef
34.
Zurück zum Zitat Huang X, Chen PC, Poole C (2004) APOE-[epsilon]2 allele associated with higher prevalence of sporadic Parkinson disease. Neurology 62(12):2198–2202CrossRef Huang X, Chen PC, Poole C (2004) APOE-[epsilon]2 allele associated with higher prevalence of sporadic Parkinson disease. Neurology 62(12):2198–2202CrossRef
35.
Zurück zum Zitat Paul KC et al (2016) APOE, MAPT, and COMT and Parkinson’s disease susceptibility and cognitive symptom progression. J Parkinsons Dis 6(2):349–359CrossRef Paul KC et al (2016) APOE, MAPT, and COMT and Parkinson’s disease susceptibility and cognitive symptom progression. J Parkinsons Dis 6(2):349–359CrossRef
36.
Zurück zum Zitat Robakis D et al (2016) The effect of MAPT haplotype on neocortical Lewy body pathology in Parkinson disease. J Neural Transm (Vienna) 123(6):583–588CrossRef Robakis D et al (2016) The effect of MAPT haplotype on neocortical Lewy body pathology in Parkinson disease. J Neural Transm (Vienna) 123(6):583–588CrossRef
37.
Zurück zum Zitat Millard SP et al (2014) Association of cerebrospinal fluid Aβ42 with A2M gene in cognitively normal subjects. Neurobiol Aging 35(2):357–364CrossRef Millard SP et al (2014) Association of cerebrospinal fluid Aβ42 with A2M gene in cognitively normal subjects. Neurobiol Aging 35(2):357–364CrossRef
38.
Zurück zum Zitat Guo X et al (2016) Association between two alpha-2-macroglobulin gene polymorphisms and Parkinson’s disease: a meta-analysis. Int J Neurosci 126(3):193–198CrossRef Guo X et al (2016) Association between two alpha-2-macroglobulin gene polymorphisms and Parkinson’s disease: a meta-analysis. Int J Neurosci 126(3):193–198CrossRef
39.
Zurück zum Zitat Daneshmandpour Y, Darvish H, Emamalizadeh B (2018) RIT2: responsible and susceptible gene for neurological and psychiatric disorders. Mol Genet Genomics 293(4):785–792CrossRef Daneshmandpour Y, Darvish H, Emamalizadeh B (2018) RIT2: responsible and susceptible gene for neurological and psychiatric disorders. Mol Genet Genomics 293(4):785–792CrossRef
40.
Zurück zum Zitat Lu Y et al (2015) Genetic association of RIT2 rs12456492 polymorphism and Parkinson’s disease susceptibility in Asian populations: a meta-analysis. Sci Rep 5:13805CrossRef Lu Y et al (2015) Genetic association of RIT2 rs12456492 polymorphism and Parkinson’s disease susceptibility in Asian populations: a meta-analysis. Sci Rep 5:13805CrossRef
Metadaten
Titel
Polymorphism of neurodegeneration-related genes associated with Parkinson’s disease risk
verfasst von
Jiaxin Li
Minhan Yi
Binbin Li
Shujuan Yin
Ying Zhang
Zini Huang
Li Shu
Yuan Zhang
Publikationsdatum
13.06.2022
Verlag
Springer International Publishing
Erschienen in
Neurological Sciences / Ausgabe 9/2022
Print ISSN: 1590-1874
Elektronische ISSN: 1590-3478
DOI
https://doi.org/10.1007/s10072-022-06192-8

Weitere Artikel der Ausgabe 9/2022

Neurological Sciences 9/2022 Zur Ausgabe

Leitlinien kompakt für die Neurologie

Mit medbee Pocketcards sicher entscheiden.

Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag

Niedriger diastolischer Blutdruck erhöht Risiko für schwere kardiovaskuläre Komplikationen

25.04.2024 Hypotonie Nachrichten

Wenn unter einer medikamentösen Hochdrucktherapie der diastolische Blutdruck in den Keller geht, steigt das Risiko für schwere kardiovaskuläre Ereignisse: Darauf deutet eine Sekundäranalyse der SPRINT-Studie hin.

Frühe Alzheimertherapie lohnt sich

25.04.2024 AAN-Jahrestagung 2024 Nachrichten

Ist die Tau-Last noch gering, scheint der Vorteil von Lecanemab besonders groß zu sein. Und beginnen Erkrankte verzögert mit der Behandlung, erreichen sie nicht mehr die kognitive Leistung wie bei einem früheren Start. Darauf deuten neue Analysen der Phase-3-Studie Clarity AD.

Viel Bewegung in der Parkinsonforschung

25.04.2024 Parkinson-Krankheit Nachrichten

Neue arznei- und zellbasierte Ansätze, Frühdiagnose mit Bewegungssensoren, Rückenmarkstimulation gegen Gehblockaden – in der Parkinsonforschung tut sich einiges. Auf dem Deutschen Parkinsonkongress ging es auch viel um technische Innovationen.

Demenzkranke durch Antipsychotika vielfach gefährdet

23.04.2024 Demenz Nachrichten

Wenn Demenzkranke aufgrund von Symptomen wie Agitation oder Aggressivität mit Antipsychotika behandelt werden, sind damit offenbar noch mehr Risiken verbunden als bislang angenommen.

Update Neurologie

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