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AQP4 tag single nucleotide polymorphisms in patients with traumatic brain injury.

TitleAQP4 tag single nucleotide polymorphisms in patients with traumatic brain injury.
Publication TypeJournal Article
Year of Publication2014
AuthorsDardiotis, E., Paterakis K., Tsivgoulis G., Tsintou M., Hadjigeorgiou G. F., Dardioti M., Grigoriadis S., Simeonidou C., Komnos A., Kapsalaki E., Fountas K., & Hadjigeorgiou G. M.
JournalJ Neurotrauma
Volume31
Issue23
Pagination1920-6
Date Published2014 Dec 1
ISSN1557-9042
KeywordsAdolescent, Adult, Aged, Aged, 80 and over, Alleles, Aquaporin 4, Brain Injuries, Female, Genetic Variation, Genotype, Haplotypes, Humans, Injury Severity Score, Male, Middle Aged, Polymorphism, Single Nucleotide, Recovery of Function, Young Adult
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.

DOI10.1089/neu.2014.3347
Alternate JournalJ. Neurotrauma
PubMed ID24999750
PubMed Central IDPMC4238262

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