Our aim was to test the association of four polymorphisms (rs1671021 in LLGL2, rs753307 in RUVBL2, rs6007897 and rs4044210 in CELSR1) previously identified as ischemic stroke (IS) risk factors in a phased GWAS performed on 6341 Japanese individuals [1].
After DNA sequencing of linkage disequilibrium blocks containing these SNPs, three tag SNPs (rs6007897 of CELSR1, rs1671021</span> of LLGL2, and rs1062708 of RUVBL2) and a nonsynonymous SNP (rs4044210 of CELSR1) were examined for their relation to ischemic stroke in subject panels B and C. Both rs6007897 (A-->G, Thr2268Ala) and rs4044210 (A-->G, Ile2107Val) of CELSR1 as well as rs1671021 (T-->C, Phe479Leu) of LLGL2 were significantly associated with ischemic stroke in subject panel B.