Figure 7.

Genetic variation in ITGB8 is associated with BAVM risk. A: LD plot of ITGB8 5′ region in Caucasian HapMap samples. In the upper panel, the genomic location on chromosome 7 of ITGB8 (NM 002214) exon 1 (gray shaded box) and intron 1 (black line) is shown. In the lower panel is the LD plot where shading represents pairwise LD between SNPs in terms of r²: black shading = 1 (perfect correlation), white shading = 0 (no correlation), shades of gray = 0 < r² < 1. SNPs identified by Haploview residing in the ITGB8 5′ flanking region, Exon 1 or intron 1 are numbered 1 through 15 and their location indicated by lines extending to the upper panel. Note that SNPs 2 and 3 are not shown since they are monomorphic (ie, minor allele frequency is 0%). Thus, no data exists between SNP1 and 4 and the 5′ boundary of the 4.2-kb LD block remains undefined. ITGB8 haplotype-tagging SNPs were selected using the Tagger algorithm with pairwise selection, minor allele frequency >5%, and r² > 0.8; genotyped SNPs are indicated by large bold font. B: OR and 95% CI for ITGB8 haplotype-tagging SNPs in 194 BAVM cases and 127 healthy controls, all of Caucasian ancestry. Vertical dotted line indicates an OR = 1 (no association). Two SNPs (rs10486391 and rs11982847) were associated with BAVM with 95% CI excluding 1.0.