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

Koichi Akiyama, Akira Narita, Hirofumi Nakaoka, Tailin Cui, Tomoko Takahashi, Katsuhito Yasuno, Atsushi Tajima, Boris Krischek, Ken Yamamoto, Hidetoshi Kasuya, Akira Hata, Ituro Inoue

Research output: Contribution to journalArticlepeer-review

37 Citations (Scopus)

Abstract

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 × 10-5 for rs1930095 of intergenic region; P=1.32 × 10 -5 for rs4628172 of TMEM195; P=2.78 × 10-5 for rs7781293 of TMEM195; P=4.93 × 10-5 for rs7550260 of ARHGEF11; and P=3.63 × 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.

Original languageEnglish
Pages (from-to)656-661
Number of pages6
JournalJournal of Human Genetics
Volume55
Issue number10
DOIs
Publication statusPublished - 2010 Oct
Externally publishedYes

Keywords

  • cerebrovascular disease
  • genetics
  • genome-wide association study
  • intracranial aneurysm
  • sex effect
  • single nucleotide polymorphism
  • subarachnoid hemorrhage

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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