Association of the hOGG1 Ser326Cys polymorphism with sporadic amyotrophic lateral sclerosis

Coppedè, Fabio; Mancuso, Michelangelo; Gerfo, Annalisa Lo; Carlesi, Cecilia; Piazza, Selina; Rocchi, Anna; Petrozzi, Lucia; Nesti, Claudia; Micheli, D; Bacci, Andrea; Migliore, Lucia; Murri, Luigi; Siciliano, Gabriele

doi:10.1016/j.neulet.2007.04.067

Cited by 36 publications

(22 citation statements)

References 33 publications

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“…A Ser326Cys polymorphism in OGG1 is associated with sporadic ALS but not with AD (73). This polymorphism is significant because this form of hOGG1 has reduced capacity to repair oxidatively damage DNA (74).…”

Section: Dna Repair Gene Abnormalities In Some Human Neurodegenerativmentioning

confidence: 99%

DNA Damage and Repair

Martin

2008

J Neuropathol Exp Neurol

175

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DNA damage is a form of cell stress and injury that has been implicated in the pathogenesis of many neurologic disorders, including amyotrophic lateral sclerosis, Alzheimer disease, Down syndrome, Parkinson disease, cerebral ischemia, and head trauma. However, most data reveal only associations, and the role for DNA damage in direct mechanisms of neurodegeneration is vague with respect to being a definitive upstream cause of neuron cell death, rather than a consequence of the degeneration. Although neurons seem inclined to develop DNA damage during oxidative stress, most of the existing work on DNA damage and repair mechanisms has been done in the context of cancer biology using cycling nonneuronal cells but not nondividing (i.e. postmitotic) neurons. Nevertheless, the identification of mutations in genes that encode proteins that function in DNA repair and DNA damage response in human hereditary DNA repair deficiency syndromes and ataxic disorders is establishing a mechanistic precedent that clearly links DNA damage and DNA repair abnormalities with progressive neurodegeneration. This review summarizes DNA damage and repair mechanisms and their potential relevance to the evolution of degeneration in postmitotic neurons.

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Section: Dna Repair Gene Abnormalities In Some Human Neurodegenerativmentioning

confidence: 99%

DNA Damage and Repair

Martin

2008

J Neuropathol Exp Neurol

175

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“…A meta-analysis of the four studies described above revealed a significant increased frequency of the variant 148Glu allele in ALS cases with respect to controls, suggesting a protective role for the wild type 148Asp variant with an OR = 0.78 (95%CI=0.62-0.97) (www.alsgene.org). Our analysis of the OGG1 Ser326Cys polymorphism in 136 ALS patients and 129 matched controls of Italian origin revealed a significant association of the variant allele with increased ALS risk (Coppedè et al, 2007b) (Table 3). At best of our knowledge this study is the first in the literature addressing this issue, still pending replication in other populations.…”

Section: Polymorphisms Of Dna Repair Genes and Amyotrophic Lateral Scmentioning

confidence: 86%

Variants and Polymorphisms of DNA Repair Genes and Neurodegenerative Diseases

Coppedè¹

2011

DNA Repair

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“…In the BER pathway, the Ser326Cys variant in the OGG1 gene was known to correlate with elevated levels of oxidized metabolites, such as 8-oxo-G and 8-OHdG, in lung cancer among smokers 32) . The presence of the Ser326Cys polymorphism was associated with cancers, diabetes mellitus, and neurodegenerative disorders in molecular epidemiological studies 22,[33][34][35] . In addition, it has been reported that subjects who carry the OGG1 Ser326Cys polymorphism are prone to multi-vessel disease in CAD among Chinese in Taiwan 36) .…”

Section: Discussionmentioning

confidence: 99%

Polymorphisms of DNA Repair Pathway Genes and Cigarette Smoking in Relation to Susceptibility to Large Artery Atherosclerotic Stroke among Ethnic Chinese in Taiwan

Shyu

Shieh

Ji-Ho

et al. 2012

JAT

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Aim: Cigarette-smoking induced oxidative DNA damage to endothelial cells has been reported to play an etiological role in atherosclerosis development. Individual vulnerability to oxidative stress through smoking exposure and the ability to repair DNA damage, which plays a critical role in modifying the risk susceptibility of large artery atherosclerotic (LAA) stroke, is hypothesized. Thus, we examined the effect of genetic polymorphisms of DNA repair pathway genes and cigarette smoking in relation to risk susceptibility of LAA stroke. Methods: We enrolled 116 LAA stroke patients and 315 healthy controls from the Armed Forces Taoyuan General Hospital, Taoyuan, Taiwan. Genotyping of polymorphisms of the OGG1 (Ser326Cys), XRCC1 (Arg399Gln), ERCC2 (Lys751Gln), and ERCC5 (Asp1104His) genes was performed and used to evaluate LAA stroke susceptibility. Results: Of those non-synonymous polymorphisms, the ERCC2 Lys751Gln variant was found to be associated with LAA stroke risk (OR: 1.69, 95%CI: 1.02-2.86), and this association was more pronounced in smokers, manifesting a 2.73-fold increased risk of LAA stroke ( p 0.027). A joint effect on risk elevation of LAA stroke was seen in those patients with OGG1 and ERCC2 polymorphisms (OR: 2.75, 95%CI: 1.26-6.00). Moreover, among smokers carrying the OGG1 Ser326Cys polymorphism, there was a tendency toward an increased risk of LAA stroke in those patients who had a greater number of high-risk genotypes of XRCC1, ERCC2, and ERCC5 polymorphisms ( ptrend 0.010). Conclusion: The susceptible polymorphisms of DNA repair pathway genes may have a modifying effect on the elevated risk of LAA stroke in smokers among ethnic Chinese in Taiwan.

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Association of the hOGG1 Ser326Cys polymorphism with sporadic amyotrophic lateral sclerosis

Cited by 36 publications

References 33 publications

DNA Damage and Repair

DNA Damage and Repair

Variants and Polymorphisms of DNA Repair Genes and Neurodegenerative Diseases

Polymorphisms of DNA Repair Pathway Genes and Cigarette Smoking in Relation to Susceptibility to Large Artery Atherosclerotic Stroke among Ethnic Chinese in Taiwan

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