Review Article

Cellular Signaling and Production of Galactose-Deficient IgA1 in IgA Nephropathy, an Autoimmune Disease

Table 1

Susceptibility loci for IgAN from multiple GWAS [3540].

SNPs associated with IgANGenes in the region

MHC region
6p21: rs9275596 (T)HLA-DRB1, HLA-DQA1, HLA-DQB1
6p21: rs9275224 (A)
6p21: rs2856717 (C)
6p21: rs9357155 (G)PSMB8, PSMB9, TAP1, TAP2
6p21: rs1883414 (T)HLA-DPB1, HLA-DPB2, HLA-DPA1,
COL11A2
CFH and CFHR gene cluster
1q32: rs6677604 (G)CFH, CFHR
HORMAD2 locus
22q12: rs2412971 (A)HORMAD2, MTMR3, LIF, OSM
DEFA locus
8p23: rs2738048 (T)DEFA
TNFSF13 locus
17p13: rs3803800 (A)TNFSF13 (APRIL)

GWAS: genome-wide association studies; MHC: major histocompatibility complex; SNP: single nucleotide polymorphisms; CFH: complement factor H; HORMAD2: HORMA domain containing 2; DEFA: human -defensin; TNFSF13: tumor necrosis factor ligand superfamily member 13.