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A PARK2 polymorphism associated with delayed neuropsychological sequelae after carbon monoxide poisoning.

ABSTRACT: Delayed neuropsychological sequelae (DNS) are the most severe and clinically intractable complications following acute carbon monoxide (CO) poisoning. Symptoms of DNS often resemble those of Parkinson's disease (PD), suggesting shared neurological deficits. Furthermore, Parkinson protein 2 (PARK2) mutations are associated with PD and other neurodegenerative diseases. The association signal was detected between PARK2 and DNS after acute CO poisoning in our DNA pooling base genome-wide association study.Two PARK2 single nucleotide polymorphisms (SNPs), rs1784594 (C/T allele) and rs1893895 (G/A allele), selected from DNA pooling base genome-wide association study, were genotyped by in 514 CO poisoning patients using polymerase chain reaction restriction fragment length polymorphisms (PCR-RFLPs). The patient group consisted of 231 patients with DNS and 283 patients with no signs of lasting neurological damage (control population).The frequency of the rs1784594 T allele was significantly lower in the DNS population (OR?=?1.42, 95%CI: 1.08?-?1.87), as was the TT vs. CC genotype (OR?=?1.95, 95%CI: 1.15?-?3.23) and the TT vs. CT?+?CC frequency (OR?=?1.68, 95%CI: 1.32?-?2.49) compared to controls. Association analysis revealed a significant association between DNS and rs1784594 (P??0.05). In female cases, the T allele frequency of rs1784594 was significantly lower in DNS patients compared to female controls (OR?=?1.48, 95%CI: 1.01?-?2.17).These data suggest that the allelic variant of rs1784594 is a risk factor for DNS following acute CO poisoning, especially in females. The PARK2 protein may modulate the susceptibility to DNS, underscoring the importance of examining the relationship between other PARK2 polymorphisms and clinical outcome following CO poisoning.

SUBMITTER: Liang F

PROVIDER: S-EPMC3849006 | biostudies-literature | 2013 Sep

REPOSITORIES: biostudies-literature

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A PARK2 polymorphism associated with delayed neuropsychological sequelae after carbon monoxide poisoning.

Liang Fei F Li Wenqiang W Zhang Ping P Zhang Yanxia Y Gu Jiapeng J Wang Xiahong X Zhang Hongxing H Gu Renjun R

BMC medical genetics 20130925

<h4>Background</h4>Delayed neuropsychological sequelae (DNS) are the most severe and clinically intractable complications following acute carbon monoxide (CO) poisoning. Symptoms of DNS often resemble those of Parkinson's disease (PD), suggesting shared neurological deficits. Furthermore, Parkinson protein 2 (PARK2) mutations are associated with PD and other neurodegenerative diseases. The association signal was detected between PARK2 and DNS after acute CO poisoning in our DNA pooling base geno ...[more]

PMID: 24063657

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Project description:Importance:Preventing delayed neurological sequelae is a major goal of treating acute carbon monoxide poisoning, but to our knowledge there are no reliable tools for assessing the probability of these sequelae. Objectives:To determine whether acute brain lesions on diffusion-weighted imaging are related to subsequent development of delayed neurological sequelae after acute carbon monoxide poisoning. Design, Setting, and Participants:This registry-based observational study was conducted at a university hospital in Seoul, Korea, between April 1, 2011, and December 31, 2015. Of 700 patients (aged ?18 years) with acute carbon monoxide poisoning, 433 patients (61.9%) who underwent diffusion-weighted imaging at an emergency department were considered for the study. Patients who developed cardiac arrest before diffusion-weighted imaging (n?=?3), had persistent neurological symptoms at discharge (n?=?8), committed suicide soon after discharge (n?=?1), and were lost to follow-up (n?=?34) were excluded. Exposure:The presence of unambiguous, high-signal-intensity, acute brain lesions on diffusion-weighted imaging (b?=?1000 s/mm2). Main Outcomes and Measures:Development of delayed neurological sequelae defined as any neurological symptoms or signs that newly developed within 6 weeks of discharge. Results:Of the 387 included patients (143 women [37.0%]; median age, 42.0 years [interquartile range, 32.0-56.0 years]), acute brain lesions on diffusion-weighted imaging were observed in 104 patients (26.9%). Among these, 77 patients (19.9%) had globus pallidus lesions, 13 (3.4%) had diffuse lesions, and 57 (14.7%) had focal lesions (37 patients [9.6%] had >1 pattern concurrently). Lesions were supratentorial and infratentorial in 101 and 23 patients, respectively. Delayed neurological sequelae occurred in 101 patients (26.1%). Multivariable logistic regression analysis indicated that the presence of acute brain lesions was independently associated with development of delayed neurological sequelae (adjusted odds ratio, 13.93; 95% CI, 7.16-27.11; P?<?.001). The sensitivity and specificity of acute brain lesions to assess the probability of delayed neurological sequelae were 75.2% (95% CI, 66.8%-83.7%) and 90.2% (95% CI, 86.8%-93.7%), respectively. In addition, the positive and negative predictive values were 73.1% (95% CI, 64.6%-81.6%) and 91.2% (95% CI, 87.9%-94.5%), respectively. Conclusions and Relevance:The presence of acute brain lesions was significantly associated with the development of delayed neurological sequelae. Diffusion-weighted imaging during the acute phase of carbon monoxide poisoning may therefore help identify patients at risk of developing these debilitating sequelae.

Dataset Information

A PARK2 polymorphism associated with delayed neuropsychological sequelae after carbon monoxide poisoning.

Publications

A PARK2 polymorphism associated with delayed neuropsychological sequelae after carbon monoxide poisoning.

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