Poly (ADP-ribose) polymerase-1 (PARP-1) genetic variants are protective against Parkinson's disease

Infante, Jon; Sánchez‐Juan, Pascual; Mateo, Ignacio; Rodríguez-Rodríguez, Eloy; Sánchez-Quintana, Coro; Llorca, Javier; Fontalba, Ana; Terrazas, Jesús Mª.; Oterino, Agustı́n; Berciano, José; Combarros, Onofre

doi:10.1016/j.jns.2007.02.008

Cited by 32 publications

(19 citation statements)

References 11 publications

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“…the PARP-1 gene with inflammation-related diseases such as Parkinson's disease and Alzheimer's disease (Infante et al, 2007a(Infante et al, , 2007b, and showed that PARP-1 -410 and 1672 haplotypes were associated with an increased risk for Alzheimer's disease. PARP-1 promoter haplotypes have also been related to susceptibility to chronic inflammatory diseases like rheumatoid arthritis.…”

Section: Parp-1 Polymorphisms and Allergic Rhinitismentioning

confidence: 99%

Investigation of Poly (ADP-Ribose) Polymerase-1 Genetic Variants as a Possible Risk for Allergic Rhinitis

Özaydın

AkbasFahri

AksoyFadlullah

et al. 2014

Genetic Testing and Molecular Biomarkers

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Recent studies point toward the involvement of poly (ADP-ribose) polymerase-1 (PARP-1) in the pathogenesis of allergic airway inflammation, such as asthma and allergic rhinitis (AR). It has been suggested that inhibition of PARP-1 provides significant protection against systemic or tissue inflammation in animal models. The objective of this study was to investigate whether single-nucleotide polymorphisms of PARP-1 gene are associated with genetic susceptibility to AR. We studied the effect of promoter variations and Val762Ala polymorphism of the PARP-1 gene on the risk for developing AR in a case-control association study with 110 RA patients and 130 control subjects in a Turkish population. The polymorphisms of 410 C/T, -1672G/A, and Val762Ala in the PARP-1 gene were analyzed using the polymerase chain reaction-restriction fragment length polymorphism method. Haplotype analysis of these groups was also performed. The results were statistically analyzed by calculating the odds ratio (OR) and their 95% confidence intervals using χ(2) tests. The heterozygote genotype of the promoter polymorphism (-1672) was significantly found to be associated with susceptibility to AR (OR: 0.56) among the tested single-nucleotide polymorphisms. Haplotypes of PARP-1 -410, -1672, and 762 were not associated with an increased risk for AR. These results raise the possibility that the promoter (-1672) polymorphism of the PARP-1 gene may be a risk factor for AR.

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Section: Parp-1 Polymorphisms and Allergic Rhinitismentioning

confidence: 99%

Investigation of Poly (ADP-Ribose) Polymerase-1 Genetic Variants as a Possible Risk for Allergic Rhinitis

Özaydın

AkbasFahri

AksoyFadlullah

et al. 2014

Genetic Testing and Molecular Biomarkers

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“…The PARP-1 gene occupies a 47-kb segment on chromosome 1, and consists of 24 exons and 1162 codons. Humans with the heterozygous genotype of a single nucleotide polymorphism (SNP) of PARP-1 show delayed onset of Parkinson's disease (Infante et al, 2007), a condition in which oxidative stress contributes (Gandhi and Wood, 2005). PARP-1 polymorphisms were associated with the development of arthritis and nephritis in patients with systemic lupus erythematosus, a disease in which ineffective DNA repair is implicated (Hur et al, 2006).…”

Section: Introductionmentioning

confidence: 99%

Influence of PARP-1 Polymorphisms in Patients after Traumatic Brain Injury

Sarnaik

Conley

Okonkwo

et al. 2010

Journal of Neurotrauma

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Poly(ADP-ribose) polymerase-1 (PARP-1) plays an important role in the cellular response to stress and DNA damage. However, excessive activity of PARP-1 exacerbates brain injury via NAD þ depletion and energy failure. The purpose of this study was to determine if tagging single nucleotide polymorphisms (tSNPs) covering multiple regions of the PARP-1 gene are related to outcome after traumatic brain injury (TBI) in humans. DNA from 191 adult patients with severe TBI was assayed for four tSNPs corresponding to haplotype blocks spanning the PARP-1 gene. Categorization as favorable or poor outcome was based on Glasgow Outcome Scale (GOS) score assigned at 6 months. PARP-1 enzyme activity was indirectly evaluated by quantifying poly-ADP-ribose (PAR)-modified proteins in cerebrospinal fluid (CSF) using an enzyme-linked immunosorbent assay. In multiple logistic regression analysis controlling for age, initial Glasgow Coma Scale score, and gender, the AA genotype of SNP rs3219119 was an independent predictor of favorable neurologic outcome. This SNP tags a haplotype block spanning the automodification and catalytic domains of the PARP-1 gene. SNP rs2271347 correlated with CSF PAR-modified protein level. This SNP, which did not correlate with outcome, tags a haplotype block spanning the promoter region of the PARP-1 gene. We conclude that after severe TBI in humans, a PARP-1 polymorphism within the automodification-catalytic domain is associated with neurological outcome, while a polymorphism within the promoter region was associated with CSF PAR-modified protein level. These findings must be replicated in a prospective study before the relevance of PARP-1 polymorphisms after TBI can be established.

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“…This variant was found to be associated with several diseases, including prostate cancer, thyroid carcinoma, and systemic lupus erythematosus (32,34,35). In addition, PARP-1 gene variants at the promoter region also had significant correlations with the development of Parkinson's disease as well as AD in a Spanish population (36,37). PARP-1 activation may be an important sensor for the initiation of cellular death processes and may mediate the balance of cellular survival and death processes.…”

Section: Discussionmentioning

confidence: 94%

Evaluation of the poly(ADP‐ribose) polymerase‐1 gene variants in Alzheimer's disease

Liu

Lin

et al. 2010

Clinical Laboratory Analysis

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Amyloid peptide is thought to play a critical role in neuronal death in Alzheimer's disease (AD), most likely through oxidative stress. Free radical-related injury leads to DNA breaks, which subsequently activates the repair enzyme poly(ADP-ribose) polymerase-1 (PARP-1). In this study, the relationship between genetic variants situated at the PARP-1 gene and AD development was investigated. We performed a case and control study from a Taiwanese population enrolled 120 AD patients and 111 healthy controls by using a polymerase chain reaction restriction fragment length polymorphism approach for two PARP-1 exonic polymorphisms, 414C/T (rs1805404) and 2456T/C (rs1136410), corresponding to protein residues at positions 81Asp/Asp and 762Val/Ala. There were no significant differences in allele or genotype frequencies for either PARP-1 gene variant between the case and control groups; however, upon analysis of the haplotype distribution, four haplotypes (Hts) were identified. We found that the distributions of Ht3-TT and Ht4-CC were significantly associated with an increased risk of AD (P<0.0001), whereas the Ht1-TC haplotype showed a protective effect for cases compared with the control group (P<0.05). These results reveal that the PARP-1 gene is highly associated with AD susceptibility and might contribute to a critical mechanism that mediates cell survival or death as a response to cytotoxic stress.

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Poly (ADP-ribose) polymerase-1 (PARP-1) genetic variants are protective against Parkinson's disease

Cited by 32 publications

References 11 publications

Investigation of Poly (ADP-Ribose) Polymerase-1 Genetic Variants as a Possible Risk for Allergic Rhinitis

Investigation of Poly (ADP-Ribose) Polymerase-1 Genetic Variants as a Possible Risk for Allergic Rhinitis

Influence of PARP-1 Polymorphisms in Patients after Traumatic Brain Injury

Evaluation of the poly(ADP‐ribose) polymerase‐1 gene variants in Alzheimer's disease

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