Genetic variants associated with increased risk for IA and probable pathogenetic mechanism(s) of susceptibility.

SNP – single nucleotide polymorphism; OR – odds ratio; HSCT – hematopoietic stem cell transplantation; D – donor; R – recipient; RAGE – receptor for advanced glycation end products; CXCL – chemokine (C-X-C motif) ligand; MBL – mannose-binding lectin; MASP – MBL-associated serine protease; PLG – plasminogen; TLR – toll-like receptor; TNFR – tumor necrosis factor receptor; n.a. – not available; VNTR – variable number of tandem repeats.1For patients that underwent HSCT, the source of the variant (donor, recipient, or both) associated with susceptibility to IA is indicated.2The controls for the association reported were not hematological patients, but healthy subjects of comparable Dutch ancestry.3Association with increased susceptibility to IA was observed for a haplotype comprising SNPs in the IL-1 gene cluster, namely IL1A rs1800587/IL1B rs16944/IL1RN VNTR 86-bp(n), but not for single loci.4Association with increased susceptibility to IA was observed for the absence of the ACC haplotype in rs1800896, rs1800871, and rs1800872, respectively.5‘MBL-low genotypes’ correspond to a group of genotypes denoted by letters (O/O and LXA/O). LX represents an MBL promoter haplotype comprising SNPs of the MBL2 gene at positions −550 (H/L) and −221 (Y/X), known to influence transcription rates and to result in low concentrations of serum MBL. Nonsynonymous variants are collectively named O (including amino acid replacements at codons 52, 54, or 57) and cause a reduction of the MBL levels due to impaired assembly of MBL monomers into functional oligomers. A indicates the wild type.6Association results regard the comparisons DD vs. DN and DD vs. NN, respectively.7Association results regard R80T, N248S and S249P, and R80T or N248S and S249P, respectively.8Association with increased susceptibility to IA was observed for a TLR4 haplotype (termed S4) that included both D299G and T399I.