AKAGAWA HIROYUKI
   Department   Research Institutes and Facilities, Research Institutes and Facilities
   Position   Associate Professor
Article types Original article
Language English
Peer review Peer reviewed
Title Association of positional and functional candidate genes FGF1, FBN2, and LOX on 5q31 with intracranial aneurysm.
Journal Formal name:Journal of human genetics
Abbreviation:J Hum Genet
ISSN code:1434-5161(Print)1434-5161(Linking)
Volume, Issue, Page 48(6),pp.309-314
Author and coauthor Yoneyama Taku, Kasuya Hidetoshi, Onda Hideaki, Akagawa Hiroyuki, Jinnai Nobuyoshi, Nakajima Toshiaki, Hori Tomokatsu, Inoue Ituro
Publication date 2003/07
Summary We previously performed a genome-wide linkage study of intracranial aneurysm (IA) and found positive evidence of linkage at chromosomes 5q22-31, 7q11, and 14q22. In the present study, we focus on 5q31, where three candidate genes, fibroblast growth factor 1 (FGF1), fibrillin 2 (FBN2), and lysyl oxidase gene ( LOX) lie, and evaluate associations with IA. Genomic DNAs were obtained from 172 IA patients and 192 controls. Association analysis was performed with ten, five, and four single-nucleotide polymorphisms (SNPs) identified in FGF1, FBN2, and LOX, respectively. A difference in allelic frequency was observed for only the SNP at intron 4 in FGF1 (chi(2)=4.44, df=1, P=0.035). Although a haplotype association was observed with the combination of ten SNPs in FGF1 (chi(2)=16.04, df=1, P=0.00006), significant haplotype associations were not observed when haplotypes were constructed with the three, two, and four SNPs in FGF1 according to the linkage disequilibrium structure. No associations of FBN2 and LOX with IA were detected in the present study.
DOI 10.1007/s10038-003-0030-6
Document No. 12750963