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Publications (8)22.18 Total impact

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    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 the patients' outcome after TBI by genotyping tag single nucleotide polymorphisms (SNPs) along AQP4 gene. A total of 363 TBI patients (19.6% female) were prospectively evaluated. Data including the Glasgow Coma Scale (GCS) scores at admission, the presence of intracranial haemorrhage and the 6-month Glasgow Outcome Scale (GOS) scores were collected. Seven tag single SNPs across 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 and gender. Significant associations with TBI outcome was detected for rs3763043 [OR, (95% 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 haemorrhages. In conclusion, the present study provides evidence for possible involvement of genetic variations in AQP4 gene in the functional outcome of TBI patients.
    Journal of neurotrauma. 07/2014;
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    ABSTRACT: Studies investigating the association between angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism and the risk of intracerebral hemorrhage (ICH) have provided conflicting results. Moreover, it is possible that the ACE I/D polymorphism may not represent the functional variant of the gene. The objective of this study was to clarify the influence of the ACE gene region on the risk of ICH by genotyping tag polymorphisms along ACE gene in two independent ethnically different cohorts. We included 250 Greek and 169 Polish unrelated patients with ICH and 250 Greek and 322 Polish normal controls in the study. To cover the majority of the genetic variability across the extended ACE gene region, we identified five tag single nucleotide polymorphisms (rs4343, rs4461142, rs7221780, rs8066276, rs8066114) from the HapMap using a pairwise tagging approach and an r2 greater than or equal to 0.8. Single nucleotide polymorphisms and haplotypes were analyzed for associations with ICH risk, ICH subtype (lobar/nonlobar), and age of disease onset using logistic and Cox regression models. Correction for multiple comparisons was carried out. In the Polish cohort, we observed a trend toward an association between the rs4461142 and the age of ICH onset (hazard ratio 0.50, 95% confidence interval 0.27-0.90, P=0.02). A common haplotype (GTCTC) also showed a trend for increased ICH risk in the Polish cohort (odds ratio 0.19, 95% confidence interval 0.04-0.85, P=0.02). These results were not replicated in the Greek cohort. Our results did not provide clear evidence for a role of ACE gene in the development of ICH.
    Pharmacogenetics and Genomics 03/2011; 21(3):136-41. · 3.61 Impact Factor
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    ABSTRACT: Traumatic brain injury (TBI) constitutes a major cause of mortality and disability worldwide, especially among young individuals. It is estimated that despite all the recent advances in the management of TBI, approximately half of the patients suffering head injuries still have unfavorable outcomes, which represents a substantial health care, social, and economic burden to societies. Considerable variability exists in the clinical outcome after TBI, which is only partially explained by known factors. Accumulating evidence has implicated various genetic elements in the pathophysiology of brain trauma. The extent of brain injury after TBI seems to be modulated to some degree by genetic variants. The authors' current review focuses on the up-to-date state of knowledge regarding genetic association studies in patients sustaining TBI, with particular emphasis on the mechanisms underlying the implication of genes in the pathophysiology of TBI.
    Neurosurgical FOCUS 01/2010; 28(1):E9. · 2.49 Impact Factor
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    ABSTRACT: Alpha-1 antichymotrypsin (ACT), a serine proteinase inhibitor, has been implicated in vascular pathology. The TT genotype of the ACT signal peptide A/T polymorphism has been reported to confer susceptibility to primary intracerebral hemorrhage (PICH). We conducted a prospective study to test possible association of ACT signal peptide A/T polymorphism with PICH in a Greek cohort with enough power (80%) to detect a twofold increase in the odds ratio. We prospectively recruited 147 patients with PICH. ACT signal peptide A/T genotypes were determined in patients and 206 healthy, age- and sex-matched control subjects from the neurology outpatient clinic using the polymerase chain reaction restriction fragment length polymorphism method. Our study did not show an association between ACT signal peptide A/T polymorphism and PICH. We also failed to find any influence on age at onset, the location and volume of PICH as well as on clinical severity at admission or 6-month outcome. Our data failed to confirm an association between ACT signal peptide A/T polymorphism and PICH. However, we cannot exclude the possibility that the TT genotype confers susceptibility at less than a twofold increase.
    European Neurology 02/2008; 59(6):307-14. · 1.50 Impact Factor
  • Skeletal Radiology 02/2008; 37(1):1-7. · 1.74 Impact Factor
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    ABSTRACT: Cerebral white matter lesions (WML) are present in more than 50% of patients with osteonecrosis of the femoral head (ONFH). Paraoxonase 1 (PON1) gene product is a detoxifying and pesticide metabolizing enzyme. Genetic variants of the PON1 gene have been found to influence the occurrence and progression of WML. We examined whether two PON1 polymorphisms (M55L and R192Q) are associated with ONFH and influence the occurrence of WML. We studied 104 patients with ONFH and 113 healthy age- and sex-matched subjects. We used logistic regression models to examine associations and survival analyses (Cox proportional hazards models) to examine possible influence of alleles on age at onset of ONFH. We found no association of PON1 M55L alleles and genotypes with ONFH. The distribution of PON1 Q192R alleles (p = 0.001) and genotypes (QQ vs. QR/RR) (p = 0.004) were statistically different between controls and patients. Patients with QQ genotype had six times higher risk for WML at brain MRI (adjusted OR 5.95; 95% CI 1.30-27.03; p = 0.02). In Cox models, there was a significant association of allele Q with risk for ONFH indicating a possible dose effect (HR = 1.43; 95%CI = 1.04-1.97; p for trend = 0.03). We conclude that individuals with PON1 192QQ genotype may have increased risk for ONFH and WMLeOn.
    Journal of Orthopaedic Research 09/2007; 25(8):1087-93. · 2.88 Impact Factor
  • Surgical Neurology 10/2006; 66(3):334-5. · 1.67 Impact Factor
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    ABSTRACT: To investigate the association of (variable number tandem repeat) interleukin (IL) 1RN and (-511) IL-1B gene polymorphisms with brain hemorrhagic events after traumatic brain injury (TBI). Data from brain CT, Glasgow Coma Scale (GCS) at admission, and 6-month Glasgow Outcome Scale (GOS) and modified Rankin Scale (mRS) were collected for 151 prospectively recruited patients with TBI. IL-1RN and IL-1B genotypes were determined using standard methods. Presence vs absence of any type of brain hemorrhage was the main outcome. Type of brain hemorrhage, GCS at admission, and 6-month GOS and mRS were secondary outcomes. Odd ratios (ORs) and corresponding 95% CI were calculated using logistic regression analyses. In adjusted models, the associations were controlled for age, gender, diffuse brain edema, volume of intracranial hematoma, neurosurgical intervention, and GCS at admission. p values less than 0.01 were considered significant. Compared with noncarriers, IL-1RN allele 2 carriers had higher odds of having cerebral hemorrhages after TBI (adjusted OR = 4.57; 95% CI = 1.67 to 12.96; p = 0.004). The associations for (-511) IL-1B polymorphism were not significant. There is an association between the presence of interleukin-1RN allele 2 and posttraumatic brain hemorrhage.
    Neurology 11/2005; 65(7):1077-82. · 8.30 Impact Factor