Absence of alpha-1 antitrypsin deficiency alleles (S and Z) in Japanese and Korean patients with aneurysmal subarachnoid hemorrhage.
OBJECTIVE
A possible association has been proposed for the formation of intracranial aneurysm (IA) and deficiency alleles (S and Z) of the alpha1-antitrypsin (AAT) gene. We extensively screened this gene in Japanese and Korean patients with aneurysmal subarachnoid hemorrhage.


METHODS
Seven allelic variants, including S and Z alleles, were genotyped by direct sequencing of genomic DNA obtained from 195 and 189 ruptured IA patients and 195 and 94 controls in Japanese and Koreans, respectively. The haplotype in phase-unknown samples was constructed with the expectation-maximization method. Differences in allelic frequencies between patients and controls were evaluated by Fisher exact test.


RESULTS
No significant differences in allelic frequencies were observed at all 7 variants between ruptured IA patients and controls. We could not detect the S and Z alleles of the AAT gene in Japanese and Korean populations.


CONCLUSIONS
AAT deficiency may not be a common genetic risk factor for aneurysmal subarachnoid hemorrhage in Japanese and Koreans.
Yoneyama
Taku
T
Department of Neurosurgery, Tokyo Women's Medical University, Tokyo, Japan.
Kasuya
Hidetoshi
H
Akagawa
Hiroyuki
H
Onda
Hideaki
H
Nakajima
Toshiaki
T
Hori
Tomokatsu
T
Inoue
Ituro
I
Lee
Jung-Chung
JC
Yang
Tae-Ki
TK
Kim
Chul-Jin
CJ
D044466:Asian People / Q000235:genetics*; D005260:Female; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D013345:Subarachnoid Hemorrhage / Q000235:genetics*; D000515:alpha 1-Antitrypsin / Q000235:genetics*
D000515:alpha 1-Antitrypsin