Gene polymorphisms and motor levodopa‐induced complications in Parkinson's disease

Michałowska, Małgorzata; Chalimoniuk, Małgorzata; Jówko, Ewa; Przybylska, Iwona; Langfort, Józef; Toczyłowska, Beata; Krygowska‐Wajs, Anna; Fiszer, Urszula

doi:10.1002/brb3.1537

Cited by 15 publications

(8 citation statements)

References 37 publications

(64 reference statements)

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“…An increasing number of studies have focused on the relationship between the risk of PD and BDNF SNPs, especially rs6265, although strong evidence is yet to be presented ( 28 ). Michałowska et al ( 29 ) identified that the variation of rs6265 increased the risk of PD. However, Pal et al ( 28 ) and Svetel et al ( 30 ) found that the allele frequency and genotype distribution in patients with PD and healthy controls did not deviate significantly.…”

Section: Discussionmentioning

confidence: 99%

Association Between Dystonia-Related Genetic Loci and Parkinson's Disease in Eastern China

Yang

Jiang

et al. 2022

Front. Neurol.

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BackgroundParkinson's disease (PD) and dystonia are closely related in terms of pathophysiology and clinical manifestations, but their common genetic characteristics remain unclear. Some genome-wide association studies (GWASs) and replication studies have revealed correlations between single nucleotide polymorphisms (SNPs) of the ARSG, BDNF, NALCN, OR4X2, KIAA1715, and OR4B1 genes and dystonia. This study was conducted to assess the association between these genetic loci and PD in a population from Eastern China.MethodsWe genotyped the SNPs (rs11655081 of ARSG; rs6265 of BDNF; rs61973742, rs1338051, rs9518384, and rs9518385 of NALCN; rs67863238 of OR4X2; rs10930717 of KIAA1715; and rs35875350 of OR4B1) in a cohort of 474 patients with PD and 439 healthy controls from East China. To determine the genotypes of these SNPs, we used an Agena MassARRAY Typer 4.0. Odds ratios (ORs) and 95% CIs were computed to evaluate the correlations between these SNPs and the risk of PD.ResultsThere were significant differences in the genotype distribution (OR = 0.649, 95% CI = 0.478–0.880) and minor allele frequency (MAF) (OR = 0.703, 95% CI = 0.533–0.929) of SNP rs61973742 (NALCN) between patients with PD and healthy controls. A significant difference was detected in the genotype distribution of rs11655081 (ARSG) (OR = 1.486, 95% CI = 1.080–2.045).ConclusionSingle nucleotide polymorphisms rs11655081 (ARSG) and rs61973742 (NALCN) may be associated with PD. The C allele of rs11655081 may increase the risk of PD, whereas the G allele of rs61973742 may be a protective factor.

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Section: Discussionmentioning

confidence: 99%

Association Between Dystonia-Related Genetic Loci and Parkinson's Disease in Eastern China

Yang

Jiang

et al. 2022

Front. Neurol.

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“…Some of the PD-related susceptibility genes have been also associated with levodopa-induced motor complications in PD patients; for instance, polymorphisms in MAO-B and COMT genes have been shown to increase the risk of developing dyskinesias and wearing-off [ 143 ]. Furthermore, specific BDNF, DAT , and COMT variants have been demonstrated to exert a synergistic effect on levodopa-induced motor complications [ 144 ]. Coffee consumption has been associated with a reduced risk of levodopa-induced dyskinesias in PD patients [ 145 ].…”

Section: Potential Implications For Diagnosis and Therapymentioning

confidence: 99%

Environmental Impact on the Epigenetic Mechanisms Underlying Parkinson’s Disease Pathogenesis: A Narrative Review

et al. 2022

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Parkinson’s disease (PD) is the second most common neurodegenerative disorder with an unclear etiology and no disease-modifying treatment to date. PD is considered a multifactorial disease, since both genetic and environmental factors contribute to its pathogenesis, although the molecular mechanisms linking these two key disease modifiers remain obscure. In this context, epigenetic mechanisms that alter gene expression without affecting the DNA sequence through DNA methylation, histone post-transcriptional modifications, and non-coding RNAs may represent the key mediators of the genetic–environmental interactions underlying PD pathogenesis. Environmental exposures may cause chemical alterations in several cellular functions, including gene expression. Emerging evidence has highlighted that smoking, coffee consumption, pesticide exposure, and heavy metals (manganese, arsenic, lead, etc.) may potentially affect the risk of PD development at least partially via epigenetic modifications. Herein, we discuss recent accumulating pre-clinical and clinical evidence of the impact of lifestyle and environmental factors on the epigenetic mechanisms underlying PD development, aiming to shed more light on the pathogenesis and stimulate future research.

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“…A few studies have been conducted on the variants encoding enzymes associated with dopamine metabolism pathway [61,62,75,83]. Lack of dopamine in synapses is a main clinical indication of PD.…”

Section: Other Genetic Analysis In Polandmentioning

confidence: 99%

“…They found that rs6265 BDNF (p.Val66Met) was associated with risk of PD. Additionally, they observed a synergic effect of rs6265 BDNF (p.Val66Met), rs397595 DAT (SLC6A3), and rs4680 COMT (p.Val158Met) polymorphisms on the occurrence of motor levodopa-induced adverse effects [83]. In a study of 158 patients with PD and 139 controls, Tan et al [77] analysed seven SNPs from MDR1 responsible for regulating environmental xenobiotics, but found no significant differences between the two groups.…”

Section: Other Genetic Analysis In Polandmentioning

confidence: 99%

Genetics of Parkinson’s disease in the Polish population

Milanowski

Ross

Friedman

et al. 2021

Neurol Neurochir Pol.

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Introduction. Genetic forms of Parkinson's disease (PD) often cluster in different ethnic groups and may present with recognisable unique clinical manifestations. Our aim was to summarise the current state of knowledge regarding the genetic causes of PD and describe the first Polish patient with SNCA duplication.Methodology. We searched the electronic database, PubMed, for studies between January 1995 and June 2020 that evaluated genetics in Polish patients with PD, using the search terms 'Parkinson's disease, 'Polish' , 'genetics' , 'mutations' , and 'variants' .Results. In total, 73 publications were included in the review; 11 genes responsible for monogenic forms and 19 risk factor genes have been analysed in the Polish population. Pathogenic variants were reported in four monogenic genes (LRRK2, PRKN, PINK1, and SNCA). Eight genes were associated with PD risk in the Polish population (GBA, TFAM, NFE2L2, MMP12, HLA-DRA, COMT, MAOB, and DBH). Multiplex ligation-dependent probe amplification and Sanger sequencing in PRKN, PINK1, DJ1, LRRK2, and SNCA revealed SNCA duplication in a 43-year-old Polish patient with PD examined by movement disorder specialists. Conclusion.Only a limited number of positive results have been reported in genes previously associated with PD in the Polish population. In the era of personalised medicine, it is important to report on genetic findings in specific populations.

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Gene polymorphisms and motor levodopa‐induced complications in Parkinson's disease

Cited by 15 publications

References 37 publications

Association Between Dystonia-Related Genetic Loci and Parkinson's Disease in Eastern China

Association Between Dystonia-Related Genetic Loci and Parkinson's Disease in Eastern China

Environmental Impact on the Epigenetic Mechanisms Underlying Parkinson’s Disease Pathogenesis: A Narrative Review

Genetics of Parkinson’s disease in the Polish population

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