AQP4 tag single nucleotide polymorphisms in patients with traumatic brain injury

Efthimios Dardiotis, Konstantinos Paterakis, Georgios Tsivgoulis, Magdalini Tsintou, Georgios F. Hadjigeorgiou, Maria Dardioti, Savas Grigoriadis, Constantina Simeonidou, Apostolos Komnos, Eftychia Kapsalaki, Kostas Fountas, Georgios M. Hadjigeorgiou

Research output: Contribution to journalArticle

26 Citations (Scopus)

Abstract

Accumulating evidence suggests that the extent of brain injury and the clinical outcome after traumatic brain injury (TBI) are modulated, to some degree, by genetic variants. Aquaporin-4 (AQP4) is the predominant water channel in the central nervous system and plays a critical role in controlling the water content of brain cells and the development of brain edema after TBI. We sought to investigate the influence of the AQP4 gene region on patient outcome after TBI by genotyping tag single nucleotide polymorphisms (SNPs) along AQP4 gene. A total of 363 patients with TBI (19.6% female) were prospectively evaluated. Data including the Glasgow Coma Scale (GCS) scores at admission, the presence of intracranial hemorrhage, and the 6-month Glasgow Outcome Scale (GOS) scores were collected. Seven tag SNPs across the AQP4 gene were identified based on the HapMap data. Using logistic regression analyses, SNPs and haplotypes were tested for associations with 6-month GOS after adjusting for age, GCS score, and sex. Significant associations with TBI outcome were detected for rs3763043 (OR [95% confidence interval (CI)]: 5.15 [1.60-16.5], p = 0.006, for recessive model), rs3875089 (OR [95% CI]: 0.18 [0.07-0.50] p = 0.0009, for allele difference model), and a common haplotype of AQP4 tag SNPs (OR [95% CI]: 2.94, [1.34-6.36], p = 0.0065). AQP4 tag SNPs were not found to influence the initial severity of TBI or the presence of intracranial hemorrhages. In conclusion, the present study provides evidence for possible involvement of genetic variations in AQP4 gene in the functional outcome of patients with TBI.

Original languageEnglish (US)
Pages (from-to)1920-1926
Number of pages7
JournalJournal of Neurotrauma
Volume31
Issue number23
DOIs
StatePublished - Dec 1 2014
Externally publishedYes

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Aquaporin 4
Single Nucleotide Polymorphism
Glasgow Outcome Scale
Glasgow Coma Scale
Intracranial Hemorrhages
Confidence Intervals
Haplotypes
Genes
HapMap Project
Aquaporins
Brain Edema
Traumatic Brain Injury
Brain Injuries
Central Nervous System
Logistic Models
Alleles
Regression Analysis
Water
Brain

All Science Journal Classification (ASJC) codes

  • Clinical Neurology

Cite this

Dardiotis, E., Paterakis, K., Tsivgoulis, G., Tsintou, M., Hadjigeorgiou, G. F., Dardioti, M., ... Hadjigeorgiou, G. M. (2014). AQP4 tag single nucleotide polymorphisms in patients with traumatic brain injury. Journal of Neurotrauma, 31(23), 1920-1926. https://doi.org/10.1089/neu.2014.3347

AQP4 tag single nucleotide polymorphisms in patients with traumatic brain injury. / Dardiotis, Efthimios; Paterakis, Konstantinos; Tsivgoulis, Georgios; Tsintou, Magdalini; Hadjigeorgiou, Georgios F.; Dardioti, Maria; Grigoriadis, Savas; Simeonidou, Constantina; Komnos, Apostolos; Kapsalaki, Eftychia; Fountas, Kostas; Hadjigeorgiou, Georgios M.

In: Journal of Neurotrauma, Vol. 31, No. 23, 01.12.2014, p. 1920-1926.

Research output: Contribution to journalArticle

Dardiotis, E, Paterakis, K, Tsivgoulis, G, Tsintou, M, Hadjigeorgiou, GF, Dardioti, M, Grigoriadis, S, Simeonidou, C, Komnos, A, Kapsalaki, E, Fountas, K & Hadjigeorgiou, GM 2014, 'AQP4 tag single nucleotide polymorphisms in patients with traumatic brain injury', Journal of Neurotrauma, vol. 31, no. 23, pp. 1920-1926. https://doi.org/10.1089/neu.2014.3347
Dardiotis E, Paterakis K, Tsivgoulis G, Tsintou M, Hadjigeorgiou GF, Dardioti M et al. AQP4 tag single nucleotide polymorphisms in patients with traumatic brain injury. Journal of Neurotrauma. 2014 Dec 1;31(23):1920-1926. https://doi.org/10.1089/neu.2014.3347
Dardiotis, Efthimios ; Paterakis, Konstantinos ; Tsivgoulis, Georgios ; Tsintou, Magdalini ; Hadjigeorgiou, Georgios F. ; Dardioti, Maria ; Grigoriadis, Savas ; Simeonidou, Constantina ; Komnos, Apostolos ; Kapsalaki, Eftychia ; Fountas, Kostas ; Hadjigeorgiou, Georgios M. / AQP4 tag single nucleotide polymorphisms in patients with traumatic brain injury. In: Journal of Neurotrauma. 2014 ; Vol. 31, No. 23. pp. 1920-1926.
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