Alpha-1 antichymotrypsin gene signal peptide a/t polymorphism and primary intracerebral hemorrhage.

BACKGROUND/AIMS: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.

IL-1RN and IL-1B gene polymorphisms and cerebral hemorrhagic events after traumatic brain injury.

OBJECTIVE: 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). METHODS: 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. RESULTS: 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. CONCLUSION: There is an association between the presence of interleukin-1RN allele 2 and posttraumatic brain hemorrhage.