The alanine/threonine polymorphism of the alpha-1-antichymotrypsin (SERPINA3) gene and ruptured intracranial aneurysms in the Japanese population.
BACKGROUND
Serine protease inhibitor member 3 of clade A (SERPINA3), also known as alpha-1-antichymotrypsin, inhibits the activity of cathepsin G. The release of neutrophil cathepsin G (proteolytic enzyme) can destroy the vascular matrix through degradation, platelet aggregation and coagulation disorders. In a previous report there was evidence that an alanine/threonine polymorphism was associated with the risk factor for aneurysmal subarachnoid hemorrhage (SAH) in a Polish population. We performed this study to determine whether this A15T polymorphism shows the same association in a Japanese population.


METHODS
A total of 437 patients with an aneurysmal SAH and 405 control cases of Japanese origin were genotyped for the A15T polymorphism and 2 further intronic single nucleotide polymorphisms by using polymerase chain reaction and direct sequencing.


RESULTS
In the patients with intracranial aneurysms the SERPINA3 A15T allele and genotype distribution did not differ significantly from the controls.


CONCLUSIONS
In the Japanese population the A15T polymorphism of the SERPINA3 gene is not associated with aneurysmal SAH.
Krischek
Boris
B
Division of Genetic Diagnosis, Institute of Medical Science, University of Tokyo, Tokyo, Japan. boris@krischek.de
Akagawa
Hiroyuki
H
Tajima
Atsushi
A
Narita
Akira
A
Kasuya
Hidetoshi
H
Hori
Tomokatsu
T
Inoue
Ituro
I
D000409:Alanine; D017542:Aneurysm, Ruptured / Q000150:complications / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D002532:Intracranial Aneurysm / Q000150:complications / Q000235:genetics*; D007564:Japan; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D015843:Serpins / Q000235:genetics*; D013345:Subarachnoid Hemorrhage / Q000209:etiology / Q000235:genetics*; D013912:Threonine
C516148:SERPINA3 protein, human; D015843:Serpins; D013912:Threonine; D000409:Alanine