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16.03.2019 | Original Article

ERCC6L2 rs591486 polymorphism and risk for amyotrophic lateral sclerosis in Greek population

verfasst von: Efthimios Dardiotis, Emmanouil Karampinis, Vasileios Siokas, Athina-Maria Aloizou, Dimitrios Rikos, Styliani Ralli, Dimitra Papadimitriou, Dimitrios P. Bogdanos, Georgios M. Hadjigeorgiou

Erschienen in: Neurological Sciences | Ausgabe 6/2019

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Abstract

Background

Α number of genetic variants have been associated with amyotrophic lateral sclerosis (ALS). A recent study supports that rs591486 across the ERCC6L2 gene and exposure to pesticides seem to have a joint effect on the development of Parkinson’s disease, a disease which shares a few common characteristics with ALS.

Objective

To detect a possible contribution of rs591486 ERCC6L2 to ALS.

Methods

A total of 155 patients with ALS and 155 healthy controls were included in the study and genotyped for rs591486. Using logistic regression analyses (crude and adjusted for age and sex), rs591486 was tested for association with ALS risk. Subgroup analysis based on ALS site of onset was also performed. Cox regression analysis was applied in order for the effect of ERCC6L2 rs591486 on ALS age of onset to be tested.

Results

Adjusted analysis showed that ERCC6L2 rs591486 was associated with an increased risk of ALS development, in dominant [odds ratio, OR (95% confidence interval, CI) 2.15 (1.04–4.46), p = 0.037] and over-dominant [OR (95%CI) = 1.91 (1.01–3.60), p = 0.043], modes. Subgroup analysis based on ALS site of onset revealed an association between ERCC6L2 rs591486 and ALS with limb onset. Results for Cox regression analysis indicated that G/A carriers had a lower age of ALS limb onset when compared to G/G carriers.

Conclusions

The current study provides preliminary indication for an implication of ERCC6L2 rs591486 in ALS development, as a possible genetic risk factor. These results possibly suggest that oxidative stress may be the main contributor in the pathophysiology of ALS.

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Titel: ERCC6L2 rs591486 polymorphism and risk for amyotrophic lateral sclerosis in Greek population
verfasst von: Efthimios Dardiotis
Emmanouil Karampinis
Vasileios Siokas
Athina-Maria Aloizou
Dimitrios Rikos
Styliani Ralli
Dimitra Papadimitriou
Dimitrios P. Bogdanos
Georgios M. Hadjigeorgiou
Publikationsdatum: 16.03.2019
Verlag: Springer International Publishing
Erschienen in: Neurological Sciences / Ausgabe 6/2019
Print ISSN: 1590-1874
Elektronische ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-019-03825-3

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Springer Medizin

ERCC6L2 rs591486 polymorphism and risk for amyotrophic lateral sclerosis in Greek population

Abstract

Background

Objective

Methods

Results

Conclusions

Leitlinien kompakt für die Neurologie

Neu im Fachgebiet Neurologie

Niedriger diastolischer Blutdruck erhöht Risiko für schwere kardiovaskuläre Komplikationen

Frühe Alzheimertherapie lohnt sich

Viel Bewegung in der Parkinsonforschung

Demenzkranke durch Antipsychotika vielfach gefährdet

Update Neurologie

Springer Medizin

Abstract

Background

Objective

Methods

Results

Conclusions

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Weitere Artikel der Ausgabe 6/2019

Highlights of the issue 6, 2019

A review of electrophysiological studies of lower motor neuron involvement in amyotrophic lateral sclerosis

Neurological manifestations and neuroimaging presentations in patients with severe preeclampsia: predisposing factors and clinical implications

A novel SLC20A2 gene mutation causing primary familial brain calcification in an Ukrainian patient

Disparity between perceived needs and service provision: a cross-sectional study of Italians with multiple sclerosis

Methotrexate-induced toxic leukoencephalopathy: an uncommon stroke mimic

Leitlinien kompakt für die Neurologie

Neu im Fachgebiet Neurologie

Niedriger diastolischer Blutdruck erhöht Risiko für schwere kardiovaskuläre Komplikationen

Frühe Alzheimertherapie lohnt sich

Viel Bewegung in der Parkinsonforschung

Demenzkranke durch Antipsychotika vielfach gefährdet

Update Neurologie