Table 4

Functional evidence for variants in common risk loci

LocusIndependent index SNPPredicted functional SNP (D′)Findings from laboratory follow-upReference
8q23.3/EIF3Hrs16892766rs16888589Allele specific differential luciferase and chromosomal interaction through chromosome conformation capture (3C)Pitmman et al103
8q24.21/MYCrs6983267rs6983267Allele specific differential luciferaseTuupanen et al99 100
11q23/COLCA2rs3802842rs7130173Allele specific differential luciferase and reduced binding affinity through electromobility shift assayBiancolella et al104
14q22.2/BMP4rs4444235rs4444235Allele specific differential luciferaseLubbe et al105
18q21/SMAD7rs4939827rs58920878Allele specific differential in transgenic Xenopus model and differential electromobility shift assayPittman et al106
  • SNP, single nucleotide polymorphism.