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. 2021 Jan 2;22(1):411. doi: 10.3390/ijms22010411

Table 5.

Summary of the published data on TLR genes polymorphisms in mastocytosis.

Gene Polymorphism Effect on Gene/Protein Function Effects on Risk of Mastocytosis and Prognosis References
TLR2 p.R753Q (rs5743708) 753Q variant encode non-functional receptor Presence of 753Q variant of TLR-2 gene increased the risk of systemic mastocytosis [30]
TLR4 896A > G (rs496790) intronic variant Not increase mastocytosis risk [30]
TLR9 −1237C > T (rs5743836) CC lower transcription rate No association with mastocytosis [30]