Lack of association of PON polymorphisms with sporadic ALS in an Italian population

Ricci, Claudia; Battistini, Stefania; Cozzi, Lorena; Benigni, Michele; Origone, Paola; Verriello, Lorenzo; Lunetta, Christian; Cereda, Cristina; Milani, Pamela; Greco, G.; Patrosso, Maria Cristina; Causarano, R.; Caponnetto, Claudia; Giannini, F.; Corbo, Massimo; Penco, Silvana

doi:10.1016/j.neurobiolaging.2010.02.010

Cited by 20 publications

(17 citation statements)

References 25 publications

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“…Our study included four more studies; two articles on the PON1 Q192R polymorphism, with 722 more ALS patients and 624 more controls [9,10]; and two additional articles on the PON1 L55M polymorphism. Nonetheless, the results of our meta-analysis of the association of PON1 polymorphisms with ALS development were in agreement with the previous study.…”

Section: Discussionmentioning

confidence: 99%

“…Seven studies were excluded because they neither contain genotype data for the PON1 polymorphism nor duplicate data. Thus, eight studies met the inclusion criteria [9][10][11][12][13][14][15][16][17]. The meta-analysis considered eight studies for the PON1 Q192R polymorphism, with 2,831 patients and 3,123 controls; and seven studies for the PON1 L55M polymorphism with 2,693 patients and 2,952 controls ( Table 2; Fig.…”

Section: Studies Included In the Meta-analysismentioning

confidence: 99%

“…Some reports have found associations between these PON1 polymorphisms and ALS, whereas others have not [9][10][11][12][13][14][15][16][17]. The reasons for this disparity may be sample size, statistical power, clinical heterogeneity, or a combination of these factors.…”

Section: Introductionmentioning

confidence: 99%

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Paraoxonase 1 Q192R and L55M polymorphisms and susceptibility to amyotrophic lateral sclerosis: a meta-analysis

et al. 2014

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This study aimed to investigate whether paraoxonase 1 (PON1) Q192R and L55M polymorphisms are associated with susceptibility to amyotrophic lateral sclerosis (ALS). We conducted a meta-analysis of the associations between the PON1 Q192R and L55M polymorphisms and ALS. A total of 2,831 patients and 3,123 controls from eight studies of the PON1 Q192R polymorphism and seven studies of the PON1 L55M T polymorphism were considered for this study. Meta-analysis showed no association between ALS and the PON1 192R allele (OR = 1.052, 95 % CI = 0.923-1.207, p = 0.447), and the PON1 55M allele (OR = 1.015, 95 % CI = 0.884-1.164, p = 0.837) in all study subjects. Similarly, no association was found between ALS and the PON1 Q192R and L55M polymorphisms using recessive, dominant or homozygote contrast models. Stratification by ethnicity indicated no association between ALS and the PON1 192R allele (OR = 1.058, 95 % CI = 0.910-1.231, p = 0.464) and the PON1 55M allele (OR = 1.027, 95 % CI = 0.889-1.185, p = 0.721) in the European population. This meta-analysis showed lack of associations between PON1 Q192R and L55M polymorphisms and susceptibility to ALS in the European population.

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Section: Discussionmentioning

confidence: 99%

Section: Studies Included In the Meta-analysismentioning

confidence: 99%

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Paraoxonase 1 Q192R and L55M polymorphisms and susceptibility to amyotrophic lateral sclerosis: a meta-analysis

et al. 2014

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“…However, a meta-analysis including 4037 cases and 4609 controls from five casecontrol studies and several genome-wide association studies showed no significant association between PON polymorphisms and ALS (Wills et al, 2009). More recently, two other studies failed to detect association between PON polymorphisms and ALS (Ricci et al 2011;Zawislak et al, 2010). In a recent sequencing study, eight mutations in all three PON genes were identified in fALS and sALS patients (Ticozzi et al, 2010).…”

Section: Paraoxonase Genes (Pon)mentioning

confidence: 99%

Genetics of Amyotrophic Lateral Sclerosis

Devil

Andersen

Bosch

et al. 2012

Amyotrophic Lateral Sclerosis

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“…For example, genetic variations have been identified in the coding and promoter region of the human PON1 locus which determines the catalytic activity and enzyme levels. Therefore, mutations that impair the ability of detoxifying PON1 may increase patient's susceptibility to organophosphate and potentially lead to the development of Amyotrophic Lateral Sclerosis (22). However, epidemiological and animal studies have not been able to establish a causal link between exposure to organophosphate and mutations in PON1 gene.…”

Section: Introductionmentioning

confidence: 99%

Occupational physician and amyotrophic lateral sclerosis: needs and training and information tools

Tomei¹

2017

PER

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Introduction: Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease. The etiology and pathogenesis of ALS are currently largely unknown and the correlation between occupational and environmental exposures and ALS is not clear. The aim of this article is to create an information/training tools not only for workers but also for employers and occupational physicians. Materials and methods: within the project "Amyotrophic Lateral Sclerosis: contributory causes of occupational origin, risk assessment, early diagnosis and information-education" funded by IN-AIL, starting from the first year of the research, in parallel with the acquisition of the literature related to the research performed on Amyotrophic Lateral Sclerosis, contributing factors regarding work origin, it was decided to search for informative-educational material produced by the main international agencies and the main associations national and international patients members of the International Alliance ALS/MND Associations. All work tools are designed using the power point without animations for argument gravity. Results: brochures for occupational physician, employers and workers are created in order to understand the problems of the person with ALS and to maximize the potential workforce. Discussion: occupational physicians have to know all aspects of ALS in order to improve make a judgment of suitability appropriate for the employee/patient. Employers must know the aspects of the disease, especially from the organizational point of view in order to be prepared in this situation. Workers, intended as patients, have to know the disease and know how to deal with it in all possible situations. The psychological aspect has great importance and affects anyone who happens to live new and difficult situations such as ALS.

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Lack of association of PON polymorphisms with sporadic ALS in an Italian population

Cited by 20 publications

References 25 publications

Paraoxonase 1 Q192R and L55M polymorphisms and susceptibility to amyotrophic lateral sclerosis: a meta-analysis

Paraoxonase 1 Q192R and L55M polymorphisms and susceptibility to amyotrophic lateral sclerosis: a meta-analysis

Genetics of Amyotrophic Lateral Sclerosis

Occupational physician and amyotrophic lateral sclerosis: needs and training and information tools

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