ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2019
PON1 is a disease modifier gene in amyotrophic lateral sclerosis: association of the Q192R polymorphism with bulbar onset and reduced survival.
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 14 papers, 1 of them a synthesis that pooled it.
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14 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.
- Genetic factors for survival in amyotrophic lateral sclerosis: an integrated approach combining a systematic review, pairwise and network meta-analysis.BMC medicine · 2022Pooled it
- Multimodal analysis of cell-free DNA identifies epigenetic biomarkers for amyotrophic lateral sclerosis diagnosis and progression.The Journal of clinical investigation · 2026Article
- Multimodal analysis of cell-free DNA identifies epigenetic biomarkers for amyotrophic lateral sclerosis diagnosis and progression.bioRxiv : the preprint server for biology · 2026Article
- Unveiling the Neuroprotective Effect of Paraoxonase 1 in Neurodegenerative Diseases Focusing on Alzheimer's Disease.Molecular neurobiology · 2025Review
- Molecular Structure of Paraoxonase-1 and Its Modifications in Relation to Enzyme Activity and Biological Functions-A Comprehensive Review.International journal of molecular sciences · 2024Review
- Paraoxonase I Activity and Its Relationship with Nutrition in Amyotrophic Lateral Sclerosis.Antioxidants (Basel, Switzerland) · 2024Article
- Paraoxonases at the Heart of Neurological Disorders.International journal of molecular sciences · 2023Review
- Article
- Gene-Toxicant Interactions in Gulf War Illness: Differential Effects of theBrain sciences · 2021Article
- Individual Oligogenic Background in p.D91A-Genes · 2021Article
- The Antioxidant Enzyme PON1: A Potential Prognostic Predictor of Acute Ischemic Stroke.Oxidative medicine and cellular longevity · 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
- Paraoxonase Role in Human Neurodegenerative Diseases.Antioxidants (Basel, Switzerland) · 2020Review
- 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
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Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
Abstract
introductionPrevious studies have associated single-nucleotide polymorphisms (SNPs) in the gene encoding the detoxifying enzyme paraoxonase 1 (PON1) to the risk of sporadic ALS. Here, we aimed to assess the role of the coding rs662 (Q192R) SNP as a modifier of ALS phenotype. MATERIALS AND
methodsWe genotyped a cohort of 409 patients diagnosed with ALS at our Center between 2002 and 2009 (269 males and 140 females; mean age at onset, 58.3 ± 37.5 years).
resultsWe found PON1 to be a disease modifier gene in ALS, with the minor allele G associated both with bulbar onset (30.9% vs. 24.6%, p = 0.013) and independently with reduced survival (OR = 1.38, p = 0.012) under a dominant model. No association was found with gender or age at onset. DISCUSSION: As this SNP is known to modify the detoxifying activity of paraxonase 1 with respect to different substrates as well as other activities of the protein, we hypothesize that the identified association might reflect specific motor neuron vulnerability to certain exogenous toxic substances metabolized less efficiently by the 192R alloenzyme, or to detrimental endogenous pathophysiological processes such as oxidative stress. Further exploration of this possible metabolic susceptibility could deepen our knowledge of ALS pathomechanisms.
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