ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2019
ERCC6L2 rs591486 polymorphism and risk for amyotrophic lateral sclerosis in Greek population.
Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed, 12 citations in OpenAlex.
- Differential Expression of Proteins Associated with Bipolar Disorder as Identified Using the PeptideShaker Software.International journal of molecular sciences · 2023Article
- Lack of an association between SCFD1 rs10139154 polymorphism and amyotrophic lateral sclerosis.Molecular medicine reports · 2022Article
- Article
- Lack of association between TREM2 rs75932628 variant and amyotrophic lateral sclerosis.Molecular biology reports · 2021Article
- CYP1A2 rs762551 polymorphism and risk for amyotrophic lateral sclerosis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Rare Neurologic Diseases and Neurological Sciences: a report for the celebration of the 2020 Rare Diseases Day.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Article
- Does SCFD1 rs10139154 Polymorphism Decrease Alzheimer's Disease Risk?Journal of molecular neuroscience : MN · 2019Article
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundΑ 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.
objectiveTo detect a possible contribution of rs591486 ERCC6L2 to ALS.
methodsA 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.
resultsAdjusted 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.
conclusionsThe 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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