Genomewide-Linkage and Haplotype-Association Studies Map Intracranial Aneurysm to Chromosome 7q11 Hideaki Onda, Hidetoshi Kasuya, Taku Yoneyama, Kintomo.

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Genomewide-Linkage and Haplotype-Association Studies Map Intracranial Aneurysm to Chromosome 7q11 Hideaki Onda, Hidetoshi Kasuya, Taku Yoneyama, Kintomo Takakura, Tomokatsu Hori, Jun Takeda, Toshiaki Nakajima, Ituro Inoue The American Journal of Human Genetics Volume 69, Issue 4, Pages 804-819 (October 2001) DOI: 10.1086/323614 Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 1 Radiographic examinations for IA. A 51-year-old male patient with a complaint of vertigo received MR imaging, which showed a flow void, an indication of aneurysm, in the left middle cerebral artery (a, arrow). Cerebral angiography (b, arrow) and three-dimensional CT angiography (c, arrow) further confirmed IA. The American Journal of Human Genetics 2001 69, 804-819DOI: (10.1086/323614) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 2 Results of multipoint linkage analyses for high-resolution mapping on chromosomes 5 (a), 7 (b), and 14 (c) in 104 Japanese sib pairs with IA. Positions of the MLS are indicated by arrows: MLS = 2.24, 3.22, and 2.31, and distances from the p-terminal end (pter) were 141.4, 86.5, and 73.3 cM, on chromosome 5, 7, and 14, respectively. The borders (defined by LOD >1.0) of positive linkage lie between markers D5S471 and D5S2010, D7S2415 and D7S657, and D14S258 and D14S74. Additional markers used for high-resolution mapping are indicated by asterisks (*). The American Journal of Human Genetics 2001 69, 804-819DOI: (10.1086/323614) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 3 Physical map of ELN locus. a, Contigs and microsatellite-marker locations at locus. The thicker lines denote clones, which have been registered in the GenBank database, in the ELN locus; and the numbers in parentheses are the length (in kb) of the clones. The vertical arrows above the thinner lines indicate positions of eight microsatellite markers at the locus; and distances from ELN are in parentheses. Blackened rectangles indicate positions of known genes lying near ELN: TBL2 = transducin β-like 2; LIMK1 = LIM domain kinase 1; RFC2 = replication factor C 2; CYLN2 = cytoplasmic linker 2. b, Expanded view of 43-kb segment of ELN. The exon-intron organization of ELN and the positions of 14 distinct SNPs are indicated. Nine SNPs, indicated by asterisks (*), were used for pairwise haplotype-association study. The American Journal of Human Genetics 2001 69, 804-819DOI: (10.1086/323614) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 4 Association study using pairwise haplotype frequencies in patients with IA versus those in controls. P values <.01 are indicated by double asterisks (**). The American Journal of Human Genetics 2001 69, 804-819DOI: (10.1086/323614) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 5 Pairwise LD between SNPs in ELN. a, Extent of pairwise LD of ELN, measured by two distinct formulas. The upper and lower numerals in each box indicate coefficient D′ and r2, respectively. Formulas for D′ and r2 are described in the text. Pairwise combinations with relatively high LD measures (defined by D′>.7 and r2>.3) in 192 controls are indicated, by boxes containing an asterisk (*). b, Illustration of five ancestral haplotype groups. Black dots represent the SNPs at each site. H0 = no polymorphism in the allele; H1 = polymorphisms at PM1 and EX20; H2 = polymorphisms at PM2, INT4, and INT20; H3 = one polymorphism, at INT23; H4 = polymorphisms at INT32, 3UTR1, and 3UTR2. The American Journal of Human Genetics 2001 69, 804-819DOI: (10.1086/323614) Copyright © 2001 The American Society of Human Genetics Terms and Conditions