Common Variation in ISL1 Confers Genetic Susceptibility for Human Congenital Heart Disease
Figure 1
ISL1 SNP associations with CHD on chromosome 5.
a) Analysis of SNP data within and surrounding ISL1 in stage 1 yielded 8 SNPs that were significantly associated with CHD in an ethnically heterogeneous US population. ORs, 95%CIs and P values significant at = 0.05 are depicted in black. Non-significant ORs, 95% CIs and P values are depicted in grey. The yellow highlighted region indicates the location of ISL1 on chromosome 5. Labeled SNPs: (a) rs6867206, (b) rs4865656, (c) rs6869844, (d) rs2115322, (e) rs6449600, (f) rs3762977, (g) IVS1+17C>T, (h) rs1017, (i) rs6449612. b) Analysis of SNP data within and surrounding ISL1 in stage 2 US whites yielded10 SNPs that were significantly associated with CHD in an initial analysis of an ethnically heterogeneous US population. ORs, 95%CIs and P values significant at = 0.05 are depicted in black. Non-significant ORs, 95% CIs and P values are depicted in grey. The yellow highlighted region indicates the location of ISL1 on chromosome 5. Labeled SNPs: a) rs6867206, b) rs4865656, c) rs6869844, d) rs2115322, e) rs6449600, f) rs3762977 †, g) IVS1+17C>T †, h) rs1017 †, i) rs6449612. † SNP genotypes determined by imputation.