Table 2 Selected SNPs within NFKB-related genes.
Gene | Chr. | dbSNP rs# | Nucleotide substitution | Effect-allele | Location | Reported associations with autoimmune diseases, drug response and/or potential functional role |
---|---|---|---|---|---|---|
GBP6 | 1 | rs928655 | A/G | A | Intronic | Associated with etanercept response in moderate-to-severe plaque psoriasis47 |
IKBKB | 8 | rs11986055 | A/C | A | Intronic | |
IRF4 | 6 | rs1050975 | A/G | A | 3′-UTR/ncRNA | |
IRF4 | 6 | rs12203592 | C/T | T | Intronic | Correlated with white blood cell count48 |
IRF4 | 6 | rs1877175 | C/T | T | 3′-UTR/ncRNA | |
IRF4 | 6 | rs7768807 | T/C | T | 3′-UTR/ncRNA | |
KLRC1 | 12 | rs7301582 | C/T | T | Intronic | Associated with response to anti-TNF therapy in RA patients49 |
KLRK1 | KLRC4 | 12 | rs1049174 | C/G | C | 3′UTR/Intronic | Associated with response to anti-TNF therapy in RA patients50 |
KLRK1 | KLRC4 | 12 | rs1154831 | A/C | A | Intronic/Near gene | Lack of association with response to anti-TNF therapy50 |
KLRK1 | KLRC4 | 12 | rs2255336 | A/G | A | Thre72Ala | Correlation with blood NKG2D type II integral membrane protein levels51 and associated with response to anti-TNF therapy in RA patients50; Associated with a decreased risk of Lupus erythematosus52,53 |
LOC105376246 | 9 | rs2722824 | A/C | A | Near gene | |
NFKB1 | 4 | rs4648110 | A/T | A | Intronic | |
NFKB2 | 10 | rs11574851 | C/T | T | Asn698Asn | |
NFKB2 | 10 | rs12769316 | C/T | T | Near gene | |
NFKB2 | PSD | 10 | rs1056890 | C/T | T | Near gene/3′-UTR | |
NFKBIB | 19 | rs3136645 | C/T | C | ncRNA | Associated with response to anti-TNF drugs in RA patients25 |
NLRP3 | 1 | rs4612666 | C/T | T | Intronic | Associated with response to anti-TNF drugs in RA patients42 |
REL | 2 | rs13031237 | G/T | T | Intronic | Overall association with the risk of RA at GWAS level29,54,55. Association with RA in ACPA-positive individuals at GWAS level55; Association with early-onset psoriasis56 and autoimmune diseases57 in large candidate gene association studies |
REL | 2 | rs842647 | A/G | A | Intronic | Associated with susceptibility to Behcet’s disease58 |
REL | 2 | rs13017599 | A/G | A | Near gene | Associated with RA and psoriatic arthritis at GWAS level29,59 and in a candidate gene association study60 |
RELA | 11 | rs11820062 | C/T | T | Intronic | Eosinophil counts48 |
RELA | 11 | rs2306365 | A/G | A | Intronic | |
RELA | 11 | rs7119750 | C/T | T | Intronic | |
TLR10 | 4 | rs11096957 | A/C | A | Asn241His | Associated with hip osteoarthritis61,62 and effectiveness of biologics for psoriasis treatment at GWAS level63 |
TLR4 | 9 | rs4986791 | C/T | T | Thr399Ile | TLR4: lymphocyte 96 antigen complex level51; Associated with RA risk and response to anti-TNF drugs64; Associated with risk of developing inflammatory bowel disease65 |
TLR5 | 1 | rs5744174 | C/T | C | Phe616Leu | Associated with response to anti-TNF drugs in RA patients27; Associated with the risk of Crohns disease66 and response to anti-TNF treatment67; Associated with response to ustekinumab treatment in psoriasis patients68 |
TLR9 | | TWF2 | 3 | rs187084 | G/A | T | Near gene | Associated with psoriatic arthritis risk69, hip and knee osteoarthritis70,71, SLE72 and IBD73; associated with the risk of autoimmune thyroid disease74; response to anti-TNF therapy in patients with RA64 and IBD75 |
TRAF1 | | C5 | 9 | rs3761847 | A/G | A | Near gene |