Genome-wide association study to identify genetic variants present in Japanese patients harboring intracranial aneurysms

被引：43

作者：

Akiyama, Koichi ^{[1
]}

Narita, Akira ^{[1
]}

Nakaoka, Hirofumi ^{[1
]}

Cui, Tailin ^{[1
]}

Takahashi, Tomoko ^{[1
]}

Yasuno, Katsuhito ^{[1
]}

Tajima, Atsushi ^{[1
]}

Krischek, Boris ^{[2
]}

Yamamoto, Ken ^{[3
]}

Kasuya, Hidetoshi ^{[4
]}

Hata, Akira ^{[5
]}

Inoue, Ituro ^{[1
]}

机构：

[1] Tokai Univ, Sch Med, Dept Mol Life Sci Basic Med Sci & Mol Med, Kanagawa 2591193, Japan

[2] Univ Tubingen, Dept Neurosurg, Tubingen, Germany

[3] Kyushu Univ, Med Inst Bioregulat, Dept Mol Genet, Div Mol Populat Genet, Fukuoka 812, Japan

[4] Tokyo Womens Med Univ, Neurol Inst, Dept Neurosurg, Tokyo, Japan

[5] Chiba Univ, Grad Sch Med, Dept Publ Hlth, Chiba, Japan

来源：

JOURNAL OF HUMAN GENETICS | 2010年 / 55卷 / 10期

关键词：

cerebrovascular disease; genetics; genome-wide association study; intracranial aneurysm; sex effect; single nucleotide polymorphism; subarachnoid hemorrhage; SUBARACHNOID HEMORRHAGE; ACTIN CYTOSKELETON; RISK-FACTORS; SUSCEPTIBILITY; POLYMORPHISMS; DISEASE; LINKAGE;

D O I：

10.1038/jhg.2010.82

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

An intracranial aneurysm (IA), which results in a subarachnoid hemorrhage with a high mortality on rupture, is a major public health concern. To identify genetic susceptibility loci for IA, we carried out a multistage association study using genome-wide single nucleotide polymorphisms (SNPs) in Japanese case-control subjects. In this study, we assessed evidence for association in standard approaches, and additional tests with adjusting sex effects that act between genetic effect and disease. Consequently, five SNPs (P=1.31 x 10(-5) for rs1930095 of intergenic region; P=1.32 x 10(-5) for rs4628172 of TMEM195; P-2.78 x 10(-5) for rs7781293 of TMEM195; P-4.93 x 10(-5) for rs7550260 of ARHGEF11; and P-3.63 x 10(-5) for rs9864101 of IQSEC1) with probabilities of being false positives <0.5 were associated with IA in Japanese population, and the susceptibility genes could have a role in actin remodeling in the ELN/LIMK pathway. This study indicates the presence of several susceptibility loci that deserve further investigation in the Japanese population. Journal of Human Genetics (2010) 55, 656-661; doi:10.1038/jhg.2010.82; published online 8 July 2010

引用

页码：656 / 661

页数：6

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