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


CONCLUSIONS
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.
Dardiotis
E
E
Neurogenetics Unit, Department of Neurology, School of Medicine, University of Thessaly, Larissa, Greece.
Hadjigeorgiou
G M
GM
Dardioti
M
M
Scarmeas
N
N
Paterakis
K
K
Aggelakis
K
K
Komnos
A
A
Tasiou
A
A
Xiromerisiou
G
G
Gabranis
I
I
Zintzaras
E
E
Papadimitriou
A
A
Karantanas
A
A
D017668:Age of Onset; D016022:Case-Control Studies; D002543:Cerebral Hemorrhage / Q000453:epidemiology / Q000235:genetics*; D015897:Comorbidity; D003920:Diabetes Mellitus / Q000453:epidemiology; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D006937:Hypercholesterolemia / Q000453:epidemiology; D006973:Hypertension / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D017202:Myocardial Ischemia / Q000453:epidemiology; D011110:Polymorphism, Genetic; D012907:Smoking / Q000453:epidemiology; D016019:Survival Analysis; D000514:alpha 1-Antichymotrypsin / Q000235:genetics*
D000514:alpha 1-Antichymotrypsin