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01-06-2019 | Amyotrophic Lateral Sclerosis | Original Article

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

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

Published in: Neurological Sciences | Issue 6/2019

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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Title: ERCC6L2 rs591486 polymorphism and risk for amyotrophic lateral sclerosis in Greek population
Authors: Efthimios Dardiotis
Emmanouil Karampinis
Vasileios Siokas
Athina-Maria Aloizou
Dimitrios Rikos
Styliani Ralli
Dimitra Papadimitriou
Dimitrios P. Bogdanos
Georgios M. Hadjigeorgiou
Publication date: 01-06-2019
Publisher: Springer International Publishing
Keyword: Amyotrophic Lateral Sclerosis
Published in: Neurological Sciences / Issue 6/2019
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-019-03825-3

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

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

Abstract

Background

Objective

Methods

Results

Conclusions

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Background

Objective

Methods

Results

Conclusions

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Other articles of this Issue 6/2019

Accuracy of MDS-UPDRS section IV for detecting motor fluctuations in Parkinson’s disease

A rare cause of Horner’s syndrome: cervicothoracic spinal root cysts

The role of low-frequency rTMS in the superior parietal cortex during time estimation

Clinical, radiological features and surgical strategies for 23 NF1 patients with intraorbital meningoencephalocele

Maternal germline mosaicism in Fabry disease

The global burden of cerebral small vessel disease related to neurological deficit severity and clinical outcomes of acute ischemic stroke after IV rt-PA treatment