From: Analysing the eosinophil cationic protein - a clue to the function of the eosinophil granulocyte
Polymorphism | alleles | Alternative names | location, effect |
---|---|---|---|
rs2284954 | A/G | -550A > G | promoter |
rs11575981 | C/T | -393T > C | promoter, disrupt C/EBP binding site, correlate with s-ECP [142] |
rs2233858 | C/T | Â | intron |
rs2233859/rs17792481 | A/C | -38C > A | intron (in a GATA-1 site) a |
rs2073342 | C/G | 371G > C, 434G > C | protein coding, Y > G is associated with allergic asthma [40]a, poor outcome in oral squamous cell carcinoma tumours [146], C over represented in helminth infected Ugandans [148] |
rs12147890 | A/G | Â | protein coding |
rs2233860 | G/C | Â | 3' UTR,G is correlated to higher intracellular ECP [143], G is associated with allergic rhinitis [145], a |
rs8019343 | A/T | 499G > C, 562G > C | 3' UTR T is only present in one patient with helminth infection [147] |