scholarly journals Integrative Metabolomic and Metallomic Analysis in a Case–Control Cohort With Parkinson’s Disease

Author(s):  
Marianna Lucio ◽  
Desiree Willkommen ◽  
Michael Schroeter ◽  
Ali Sigaroudi ◽  
Philippe Schmitt-Kopplin ◽  
...  
2021 ◽  
Author(s):  
Kajsa Brolin ◽  
Sara Bandres Ciga ◽  
Cornelis Blauwendraat ◽  
Hakan Widner ◽  
Per Odin ◽  
...  

BACKGROUND: Risk factors for Parkinson's disease (PD) can be more or less relevant to a population due to population-specific genetic architecture, local lifestyle habits, and environmental exposures. Therefore, it is essential to study PD at a local, regional, and continental scale in order to increase the knowledge on disease etiology. OBJECTIVE: We aimed to investigate the contribution of genetic and environmental factors to PD in a new Swedish case-control cohort. METHODS: PD patients (n=929) and matched population-based controls (n=935) from the southernmost county in Sweden were included in the cohort. Information on environmental exposures was obtained using questionnaires at inclusion. Genetic analyses included a genome-wide association study (GWAS), haplotype assessment, and a risk profile analysis using cumulative genetic risk scores. RESULTS: The cohort is a representative PD case-control cohort (64% men, mean age at diagnosis = 67 years, median Hoehn and Yahr score = 2.0), in which previously reported associations between PD and environmental factors, such as tobacco, could be confirmed. We describe the first GWAS of PD solely composed of PD patients from Sweden, and confirm associations to well-established risk alleles in SNCA. In addition, we identified a potential novel, population-specific PD risk variant in the PLPP4 locus (rs12771445) along with a risk haplotype in the region. CONCLUSIONS: This work provides an in-depth description of a new PD case-control cohort from southern Sweden in which we identified a potential novel PD risk locus, PLPP4. Replication studies are needed to determine whether the PLPP4 locus is associated with PD in Sweden, and on a global scale.


2021 ◽  
pp. 1-20
Author(s):  
Kajsa Brolin ◽  
Sara Bandres-Ciga ◽  
Cornelis Blauwendraat ◽  
Håkan Widner ◽  
Per Odin ◽  
...  

Background: Risk factors for Parkinson’s disease (PD) can be more or less relevant to a population due to population-specific genetic architecture, local lifestyle habits, and environmental exposures. Therefore, it is essential to study PD at a local, regional, and continental scale in order to increase the knowledge on disease etiology. Objective: We aimed to investigate the contribution of genetic and environmental factors to PD in a new Swedish case-control cohort. Methods: PD patients (n = 929) and matched population-based controls (n = 935) from the southernmost county in Sweden were included in the cohort. Information on environmental exposures was obtained using questionnaires at inclusion. Genetic analyses included a genome-wide association study (GWAS), haplotype assessment, and a risk profile analysis using cumulative genetic risk scores. Results: The cohort is a representative PD case-control cohort (64%men, mean age at diagnosis = 67 years, median Hoehn and Yahr score 2.0), in which previously reported associations between PD and environmental factors, such as tobacco, could be confirmed. We describe the first GWAS of PD solely composed of PD patients from Sweden, and confirm associations to well-established risk alleles in SNCA. In addition, we nominate an unconfirmed and potentially population-specific genome-wide significant association in the PLPP4 locus (rs12771445). Conclusion: This work provides an in-depth description of a new PD case-control cohort from southern Sweden, giving insights into environmental and genetic risk factors of PD in the Swedish population.


Author(s):  
Hamdy N. El-Tallawy ◽  
Tahia H. Saleem ◽  
Wafaa M. Farghaly ◽  
Heba Mohamed Saad Eldien ◽  
Ashraf Khodaery ◽  
...  

Abstract Background Parkinson’s disease is one of the neurodegenerative disorders that is caused by genetic and environmental factors or interaction between them. Solute carrier family 41 member 1 within the PARK16 locus has been reported to be associated with Parkinson’s disease. Cognitive impairment is one of the non-motor symptoms that is considered a challenge in Parkinson’s disease patients. This study aimed to investigate the association of rs11240569 polymorphism; a synonymous coding variant in SLC41A1 in Parkinson’s disease patients in addition to the assessment of cognitive impairment in those patients. Results In a case -control study, rs11240569 single nucleotide polymorphisms in SLC41A1, genes were genotyped in 48 Parkinson’s disease patients and 48 controls. Motor and non-motor performance in Parkinson's disease patients were assessed by using the Movement Disorder Society-Sponsored Revision of the Unified Parkinson’s Disease Rating Scale (MDS-UPDRS). The genotype and allele frequencies were compared between the two groups and revealed no significant differences between case and control groups for rs11240569 in SLC41A1 gene with P value .523 and .54, respectively. Cognition was evaluated and showed the mean ± standard deviation (SD) of WAIS score of PD patients 80.4 ± 9.13 and the range was from 61 to 105, in addition to MMSE that showed mean ± SD 21.96 ± 3.8. Conclusion Genetic testing of the present study showed that rs11240569 polymorphism of SLC41A1 gene has no significant differences in distributions of alleles and genotypes between cases and control group, in addition to cognitive impairment that is present in a large proportion of PD patients and in addition to the strong correlation between cognitive impairment and motor and non-motor symptoms progression.


2020 ◽  
Vol 79 ◽  
pp. e38
Author(s):  
C.A. Soto-Rincón ◽  
S.A. Castillo Torres ◽  
D.G. Marítnez-Roque ◽  
J. Duarte-Bravo ◽  
S. España-Pérez ◽  
...  

2010 ◽  
Vol 25 (15) ◽  
pp. 2587-2594 ◽  
Author(s):  
Michael Y. Shino ◽  
Valerie McGuire ◽  
Stephen K. Van Den Eeden ◽  
Caroline M. Tanner ◽  
Rita Popat ◽  
...  

2021 ◽  
Vol 11 (5) ◽  
pp. 623
Author(s):  
Ji Hee Kim ◽  
Jae Keun Oh ◽  
Jee Hye Wee ◽  
Chan Yang Min ◽  
Dae Myoung Yoo ◽  
...  

(1) Background: Controversy exists regarding the relationship between anemia and Parkinson’s disease (PD). This study aimed to evaluate the risk of PD related to anemia in the Korean population. (2) Methods: The Korean National Health Insurance Service-National Sample Cohort, which includes adults over 40 years of age, was assessed from 2002 to 2015. A total of 5844 PD patients were matched by age, sex, income, and region of residence with 23,376 control participants at a ratio of 1:4. The analyzed covariates included age, sex, blood pressure, fasting blood glucose, obesity, smoking status, and alcohol consumption. A multiple logistic regression analysis was conducted for case-control analyses. (3) Results: The adjusted odds ratio (OR) for the risk of PD associated with anemia was 1.09 after adjusting for potential confounders (95% confidence interval (CI) 1.01–1.18, p = 0.030). Among men younger than 70 years, the adjusted OR of PD was 1.34 (95% CI 1.13–1.60, p = 0.001). (4) Conclusions: Our findings suggest that anemia may increase the risk of PD, particularly in men younger than 70 years. Further research is required to elucidate the causal relationship between these two diseases.


2004 ◽  
Vol 19 (7) ◽  
pp. 807-811 ◽  
Author(s):  
Marco D'Amelio ◽  
Paolo Ragonese ◽  
Letterio Morgante ◽  
Antonio Epifanio ◽  
Graziella Callari ◽  
...  

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