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.
journal_name
J Neurotraumajournal_title
Journal of neurotraumaauthors
Dardiotis E,Paterakis K,Tsivgoulis G,Tsintou M,Hadjigeorgiou GF,Dardioti M,Grigoriadis S,Simeonidou C,Komnos A,Kapsalaki E,Fountas K,Hadjigeorgiou GMdoi
10.1089/neu.2014.3347subject
Has Abstractpub_date
2014-12-01 00:00:00pages
1920-6issue
23eissn
0897-7151issn
1557-9042journal_volume
31pub_type
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journal_title:Journal of neurotrauma
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pub_type: 临床试验,杂志文章,随机对照试验
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journal_title:Journal of neurotrauma
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