Heterozygote Genotypes at rs2222823 and rs2811712 SNP Loci are Associated with Cerebral Small Vessel Disease in Han Chinese Population

Li, Wei; Hu, Bo; Li, Gui Lin; Zhao, Xing Quan; Xin, Bao; Lin, Jinxi; Shen, Yuan; Liang, Xian Hong; Liu, Gai Fen; Gao, Han; Liao, Xiao; Liang, Zhi Gang; Wang, Yong Jun

doi:10.1111/j.1755-5949.2012.00322.x

Cited by 16 publications

(12 citation statements)

References 35 publications

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“…6,8 AQP4 gene, therefore, has a strong biological rationale for involvement in brain edema formation after TBI and consequently in the clinical outcome of patients with TBI. Despite the considerable efforts made in recent years to identify any possible associations between AQP4 gene polymorphisms and various diseases including inflammatory demyelinating disease (multiple sclerosis and neuromyelitis optica), 28,29 idiopathic intracranial hypertension, 30 cerebral small vessel disease, 31 and migraine, 32 there has been little success in identifying regions of AQP4 gene with functional significance. [33][34][35] A previous study in patients with TBI, examining possible involvement of coding variants in AQP4 exon 4, failed to demonstrate any significant influence on outcome of patients with TBI, because no coding polymorphisms in exon 4 of AQP4 gene were detected.…”

Section: Discussionmentioning

confidence: 99%

AQP4 Tag Single Nucleotide Polymorphisms in Patients with Traumatic Brain Injury

Dardiotis

Paterakis

Tsivgoulis

et al. 2014

Journal of Neurotrauma

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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.

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Section: Discussionmentioning

confidence: 99%

AQP4 Tag Single Nucleotide Polymorphisms in Patients with Traumatic Brain Injury

Dardiotis

Paterakis

Tsivgoulis

et al. 2014

Journal of Neurotrauma

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“…Extracted genomic DNA samples were stored at −80°C until genotyping was performed. The variants for rs2208454 were genotyped using the snapshot method described previously . For polymerase chain reaction (PCR), the forward primer sequence was GCCAGATTAGATCTGAGCTAGGGTGT.…”

Section: Methodsmentioning

confidence: 99%

The Single Nucleotide Polymorphism rs2208454 Confers an Increased Risk for Ischemic Stroke: A Case–Control Study

Luo

Sun

et al. 2014

CNS Neurosci Ther

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“…Then needle was taken out, and incision was stitched. The signs, which showed rabbit cerebral hemorrhage model was successful, were [11][12][13] as follows: (1) After blood injection, there was right side limb weakness and hemiplegia, head tilted to the right side; (2) After recovering from anesthesia, there was obvious right limb claudication while walking.…”

Section: Establishment Of Cerebral Hemorrhage Animal Modelmentioning

confidence: 99%

Effects of High-Pressure Oxygen Therapy on Brain Tissue Water Content and AQP4 Expression in Rabbits with Cerebral Hemorrhage

Chen

Guo

et al. 2014

Cell Biochem Biophys

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To investigate the effects of different atmosphere absolutes (ATA) of high-pressure oxygen (HPO) on brain tissue water content and Aquaporin-4 (AQP4) expression in rabbits with cerebral hemorrhage. 180 New Zealand white rabbits were selected and randomly divided into normal group (n = 30), control group (n = 30) and cerebral hemorrhage group (n = 120), and cerebral hemorrhage group was divided into group A, B, C and D with 30 rabbits in each group. The groups received 1.0, 1.8, 2.0 and 2.2 ATA of HPO treatments, respectively. Ten rabbits in each group were killed at first, third and fifth day to detect the brain tissue water content and change of AQP4 expression. In cerebral hemorrhage group, brain tissue water content and AQP4 expression after model establishment were first increased, then decreased and reached the maximum on third day (p < 0.05). Brain tissue water content and AQP4 expression in control group and cerebral hemorrhage group were significantly higher than normal group at different time points (p < 0.05). In contrast, brain tissue water content and AQP4 expression in group C were significantly lower than in group A, group B, group D and control group (p < 0.05). In control group, AQP4-positive cells significantly increased after model establishment, which reached maximum on third day, and positive cells in group C were significantly less than in group A, group B and group D. We also found that AQP4 expression were positively correlated with brain tissue water content (r = 0.719, p < 0.05) demonstrated by significantly increased AQP4 expression along with increased brain tissue water content. In conclusion, HPO can decrease AQP4 expression in brain tissue of rabbits with cerebral hemorrhage to suppress the progression of brain edema and promote repairing of injured tissue. 2.0 ATA HPO exerts best effects, which provides an experimental basis for ATA selection of HPO in treating cerebral hemorrhage.

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Heterozygote Genotypes at rs2222823 and rs2811712 SNP Loci are Associated with Cerebral Small Vessel Disease in Han Chinese Population

Cited by 16 publications

References 35 publications

AQP4 Tag Single Nucleotide Polymorphisms in Patients with Traumatic Brain Injury

AQP4 Tag Single Nucleotide Polymorphisms in Patients with Traumatic Brain Injury

The Single Nucleotide Polymorphism rs2208454 Confers an Increased Risk for Ischemic Stroke: A Case–Control Study

Effects of High-Pressure Oxygen Therapy on Brain Tissue Water Content and AQP4 Expression in Rabbits with Cerebral Hemorrhage

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