Table 1

Summary of polymorphic immune response genes reported in the literature to be associated with increased (risk) or decreased (protective) frequency of inhibitors in the literature

GeneType of polymorphismEffectReference
Interleukin 10 (IL 10) Microsatellite Risk 40  
 SNP Risk 41  
 SNP Risk 42  
 SNP Haplotype Risk 43  
 SNP Haplotype Risk 44  
 SNP Haplotype Risk 45  
 SNP Haplotype Risk 46  
Interleukin 1α (IL-1α) SNP Haplotype Risk 43  
Interleukin 1β (IL-1β) SNP Haplotype Protective 43  
Interleukin 2 (IL-2) SNP Haplotype Protective 43  
Interleukin 5 (IL-5) SNP Risk 47  
Interleukin 12A (IL-12A) SNP Haplotype Risk 43  
Transforming Growth Factor β NA Protective 48  
Tumor Necrosis Factor α (TNFA) SNP Risk 45  
 SNP Risk 41  
 SNP Risk 49  
Cytotoxic T-lymphocyte Antigen 4 (CTLA4) SNP Risk 50  
 SNP Protective 51  
CD40/CD40L NA Protective 48  
CD44 SNPs (2) Risk 33  
Protein Tyrosine Phosphatase, Receptor Type, M (PTPRM) SNP Risk 33  
Tumor Necrosis Factor Receptor Superfamily, Member 21 (TNFRSF21) SNP Risk 33  
Mitogen-activated Protein Kinase 9 (MAPK9) SNP Risk 33  
Immunoglobulin Superfamily, Member 2 (IGSF2) SNP Protective 33  
Macrophage Scavenger Receptor 1 (MSR1) SNP Protective 33  
Protein Tyrosine Phosphatase, Receptor Type, E (PTPRE) SNP Protective 33  
Heme Oxygenase-1-Encoding (HMOX1) Microsatellite Risk 23  
Fc γ Receptors 2A (FCGR2A) SNP Risk 52  
GeneType of polymorphismEffectReference
Interleukin 10 (IL 10) Microsatellite Risk 40  
 SNP Risk 41  
 SNP Risk 42  
 SNP Haplotype Risk 43  
 SNP Haplotype Risk 44  
 SNP Haplotype Risk 45  
 SNP Haplotype Risk 46  
Interleukin 1α (IL-1α) SNP Haplotype Risk 43  
Interleukin 1β (IL-1β) SNP Haplotype Protective 43  
Interleukin 2 (IL-2) SNP Haplotype Protective 43  
Interleukin 5 (IL-5) SNP Risk 47  
Interleukin 12A (IL-12A) SNP Haplotype Risk 43  
Transforming Growth Factor β NA Protective 48  
Tumor Necrosis Factor α (TNFA) SNP Risk 45  
 SNP Risk 41  
 SNP Risk 49  
Cytotoxic T-lymphocyte Antigen 4 (CTLA4) SNP Risk 50  
 SNP Protective 51  
CD40/CD40L NA Protective 48  
CD44 SNPs (2) Risk 33  
Protein Tyrosine Phosphatase, Receptor Type, M (PTPRM) SNP Risk 33  
Tumor Necrosis Factor Receptor Superfamily, Member 21 (TNFRSF21) SNP Risk 33  
Mitogen-activated Protein Kinase 9 (MAPK9) SNP Risk 33  
Immunoglobulin Superfamily, Member 2 (IGSF2) SNP Protective 33  
Macrophage Scavenger Receptor 1 (MSR1) SNP Protective 33  
Protein Tyrosine Phosphatase, Receptor Type, E (PTPRE) SNP Protective 33  
Heme Oxygenase-1-Encoding (HMOX1) Microsatellite Risk 23  
Fc γ Receptors 2A (FCGR2A) SNP Risk 52  

For the HIGS combined cohort study, only SNPs associated with inhibitors in the subgroup of discordant brother pairs are shown.33 

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