アカガワ　ヒロユキ   Akagawa Hiroyuki   赤川　浩之    所属   研究施設 研究施設    職種   准教授
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	Collagen type I alpha2 (COL1A2) is the susceptible gene for intracranial aneurysms.
掲載誌名	正式名：Stroke 略　 称：Stroke ISSNコード：1524-4628(Electronic)0039-2499(Linking)
掲載区分	国外
巻・号・頁	35(2),pp.443-448
著者・共著者	Yoneyama Taku, Kasuya Hidetoshi, Onda Hideaki, Akagawa Hiroyuki, Hashiguchi Kazunari, Nakajima Toshiaki, Hori Tomokatsu, Inoue Ituro
発行年月	2004/02
概要	BACKGROUND AND PURPOSE:The collagen alpha2(I) gene (COL1A2) on chromosome 7q22.1, a positional and functional candidate for intracranial aneurysm (IA), was extensively screened for susceptibility in Japanese IA patients.METHODS:Twenty-one single nucleotide polymorphisms (SNPs) of COL1A2 were genotyped in genomic DNA from 260 IA patients (including 115 familial cases) (mean age, 59.9 years) and 293 controls (mean age, 61.6 years). Differences inMETHODS:allelic and genotypic frequencies between the patients and controls were evaluated with the chi(2) test. Circular dichroism spectrometry was monitored with collagen-related peptides that mimic triple-helical models of type I collagen with Ala-459 and Pro-459 to estimate the conformation and stability of alterations.RESULTS:Significant genotypic association in the dominant model was observed between an exonic SNP of COL1A2 and familial IA patients (chi(2)=11.08; df=1; P=0.00087; odds ratio=3.19; 95% CI, 2.22 to 6.50). This SNP induces Ala to Pro substitution at amino acid 459, located on a triple-helical domain. Circular dichroism spectra showed that the Pro-459 peptide had a higher thermal stability than the Ala-459 peptide.CONCLUSIONS:The variant of COL1A2 could be a genetic risk factor for IA patients with family history.
DOI	10.1161/01.STR.0000110788.45858.DC
文献番号	14739420