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Association Between MTHFR Genetic Polymorphism and Parkinson's Open Med. 2019; 14: 613-624 Research Article Hong-Mei Diao, Zheng-Feng Song, and Hai-Dong Xu* Association between MTHFR genetic polymorphism and Parkinson’s disease susceptibility: a meta-analysis https://doi.org/10.1515/med-2019-0069 threat of PD. Also, A1298C polymorphisms is unlikely to received May 13, 2019; accepted June 27, 2019 significantly contribute towards the susceptibility to PD. Further large-scale case-control studies are still required. Abstract: Folate metabolism plays quite a critical role in Keywords: Parkinson’s disease; MTHFR; MTR; Polymor- Parkinson’s disease (PD). Previous published research phism; Meta-analysis works have studied the link existing between the folate metabolism genetic polymorphisms and PD suscepti- bility; nevertheless, the results continue having contro- versies and inconclusiveness. Accordingly, we carried out the present meta-analysis for the assessment of the potential link between the folate metabolism genetic pol- 1 Introduction ymorphisms and the susceptibility to PD. In addition we carried out a literature search in the PubMed, EMBASE, Parkinson’s disease (PD) is termed as the second most fre- Cochrane Library, and WanFang databases till November quently prevalent neurodegenerative disorder following 10, 2018. The odds ratios (ORs) with corresponding 95% the Alzheimer’s disease, which impacts approximately 1% credible interval (95%CI) were put to use for evaluating of the individuals aged more than 60 across the globe and the strength of the association of three folate metabo- 4-5% of people aged more than 85 years [1, 2] . Clinically, lism genetic polymorphism ( C677T, A1298C, and A2756G) PD is manifested by the classical motor symptoms, which with the susceptibility to PD. Each statistical analysis include not only the tremor, but also the rigidity, brady- was carried out with the use of STATA 15.0. An aggregate kinesia, and postural instability, significantly impacting of twenty-one case-control investigations were retrieved, the patients’ quality of life [2, 3]. These medicinal pres- which involved 3,944 PD patients and 4,412 controls. We entations constitute the results of dopaminergic neuron discovered the existence of no substantial link between loss in the substantia nigra, leading the lowered degrees the C677T and A1298C polymorphism and PD risk in any of dopamine in the striatum and disrupted motor control. genetic framework comparisons. With regard to A2756G Despite the fact that the reason leading to the neuronal polymorphism, we discovered that there was an asso- loss is not clear, more and more evidence has suggested ciation between the A2756G genetic polymorphism and that mitochondrial impairment, endothelial damage, an augmented threat of PD in the co-dominant genetic inflammatory process, and oxidative stress are considered framework (GG vs. AA: OR=1.86, 95%CI=1.02-3.37, P=0.042) as playing key roles when it comes to the selective dopa- and the recessive genetic model (GG vs. GA+AA: OR=1.90, minergic cell death in the brain of those patients, who 95%CI=1.06-3.41, P=0.031). To summarize, our research have PD [4, 5]. work indicates that the A2756G polymorphism of the folate Homocysteine (Hcy) has been observed as enhanc- metabolism gene had an association with an augmented ing mitochondrial dysfunction, apoptosis, and oxidative stress, together with being a contributing determinant in the pathophysiological process to a number of neu- *Corresponding author: Hai-Dong Xu,Department of Neurology, the rodegenerative diseases that include PD [6, 7]. Hcy is a Central People’s Hospital of Tengzhou City, Tengzhou 277500, Shan- sulfur-containing amino acid, which is derived from the dong, China, E-mail: [email protected] demethylation of methionine by means of the methionine Hong-Mei Diao, Zheng-Feng Song, Department of Neurology, the cycle and the folate cycle [8]. Methylenetetrahydrofolate Central People’s Hospital of Tengzhou City, Tengzhou 277500, Shandong, China reductase (MTHFR) is a folate-reliant enzyme that cata- Open Access. © 2019 Hong-Mei Diao et al. published by De Gruyter. This work is licensed under the Creative Commons Attribution 4.0 Li- cense. 614 Hong-Mei Diao et al. lyzes 5,10-methylenetetrahydrofolate to 5-methyltetrahy- 2 Materials and methods drofolate. The output is termed as the dominant form of circulating folate, besides providing a methyl group for The current meta-analysis was carried out in accordance the re-methylation of Hcy back to methionine [8]. Three with the consensus statement of the Meta-analysis of common variants (C677T, A1298C, and A2756G) in the Observational Studies in Epidemiology recommendations MTHFR gene, which lower the function of MTHFR, in [13]. All the analysis was carried out on the basis of previ- addition to further resulting into the metabolic disruption ously published works; in this manner, ethical approval of Hcy, have been indicated as having association with the and patient consent were not required. risk of patients with PD [8, 9]. A number of case-control investigations have explored the potential link that exists between the MTHFR genetic 2.1 Identification of eligible studies polymorphisms and susceptibility to PD, but the findings are still inconclusive [9-12]. Hence, we carried out the A literature search in the PubMed, as well as in the present meta-analysis in order to clarify the link existing EMBASE, Cochrane Library, and WanFang databases between the MTHFR polymorphisms and susceptibility to was carried out to figure out the eligible studies, and the PD with the use of qualified data attained from the pub- latest search was updated in November 2018. The terms lished case-control research works. presented as follows, together with their combinations, PRISMA 2009 Flow Diagram Records identified through database searching (n = 256) Identification Records after duplicates removed (n = 94) Records excluded (n = 47): Screening Records screened (n = 47) abstract (n=4), reviews (n=23), not relevant to PD (n=20) Full-text articles assessed Full-text articles excluded, for eligibility (n = 21) with reasons: Eligibility Only case study (n = 5); Insufficient data (n = 15); Meta-analysis (n = 6) Studies included in quantitative synthesis (meta-analysis) (n = 21) Included Figure 1: Flow diagram of included and excluded studies. MTHFR polymorphism and Parkinson’s disease susceptibility 615 A B C D Figure 2: Forest plot of the association between MTHFR C677T polymorphism and PD susceptibility: (A) allelic genetic model in the overall populations; (B) allelic genetic model, stratified by ethnicity; (C) allelic and (D) co-dominant genetic model, stratified by source of control. were searched: ‘methylenetetrahydrofolate reductase’ OR reports, reviews, letters; (4) studies carried out in non-hu- ‘MTHFR’ AND ‘Parkinson’s disease’ OR ‘PD’ AND ‘pol- mans, and duplicated publication. For the research works ymorphism*’ OR ‘variant*’. Each of the search was con- having copied data, the biggest or the latest publication strained to English or Chinese language papers. was chosen. 2.2 Inclusion and exclusion 2.3 Data extraction The qualified research works mandatorily require meeting All data were independently extracted by two investi- the inclusion criteria as hereunder: (1) evaluate the link gators in accordance with the above-mentioned inclu- existing between the MTHFR polymorphisms and sus- sion criteria. Moreover, the following information was ceptibility to PD; (2) case-control research design; (3) extracted from all of the research works included: the first enough amount of data for the calculation of the odds author, in addition to the year of publication, country, eth- ratios (ORs), coupled with 95 percent confidence interval nicity, genotype distributions in cases as well as controls, (95%CI). The research works were not counted on for any besides the detection methodology of genotypes. The of the following reasons: (1) inadequate amount of infor- disagreement existing between scholars were removed mation for extracting the data; (2) only case study; (3) case through the consultation with a 3rd scholar. 616 Hong-Mei Diao et al. Table 1: Main characteristics of included studies in this meta-analysis. Author Year Country Ethnicity Control Sample Size Genotyping HWE in Source Case Control Methods controls Dorszewska 2007 Poland Caucasian PB 98 50 PCR-RFLP 0.495 Lin 2007 China Asian PB 94 146 PCR-RFLP 0.410 Yasui 2000 Japan Asian PB 90 53 PCR 0.194 Harmon 1997 Ireland Caucasian PB 188 184 PCR 0.132 Białecka 2012 Poland Caucasian HB 320 254 PCR-RFLP 0.855 Caccamo 2007 Italy Caucasian PB 49 86 PCR 0.376 Camicioli 2009 Canada Caucasian HB 51 49 PCR 0.804 Fong 2011 China Asian HB 211 218 PCR 0.494 Wullner 2005 Germany Caucasian NA 342 342 PCR 0.021 Garcia 2015 Mexico Caucasian PB 140 216 TaqMan 0.118 Gorgone 2012 Italy Caucasian PB 60 82 PCR 0.430 Kumudini 2014 India Asian PB 151 416 PCR-RFLP 0.352 Liao 2014 China Asian PB 765 717 PCR 0.013 Religa 2006 Poland Caucasian HB 114 100 PCR 0.901 Rodriguez-Oroz 2009 Spain Caucasian PB 77 28 PCR-RFLP 0.748 Todorovic 2006 Serbia Caucasian PB 113 53 PCR 0.583 Yuan 2016 China Asian PB 512 512 PCR 0.347 Yuan 2009 China Asian HB 76 110 PCR-RFLP 0.652 Zahra 2016 Malta Caucasian PB 100 311 PCR 0.382 Chao 2014 China Asian HB 161 240 PCR 0.198 Momose 2002 Japan Asian PB 232 245 PCR 0.849 Abbreviations: HWE, Hardy-Weinberg equilibrium; PCR-RFLP, Polymerase chain reaction-restriction fragment length polymorphism; PB, Population-based; HB, Hospital-based. 2.4 Statistical analysis tistical analysis was carried out with the use of the STATA version 15.0 software (Stata Corporation, College Station, The Hardy-Weinberg equilibrium (HWE) was calculated by TX, USA). A P-value below 0.05 was regarded as having the Chi-squared test in control groups in all of the research statistical significance.
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