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Summary of the published data on IL4R and IL13 genes polymorphisms in mastocytosis.
| Gene | Polymorhism | Effect on Gene/Protein Function | Effects on Risk of Mastocytosis and Prognosis | References |
|---|---|---|---|---|
| IL4R | p.Q576R (rs 1801275) |
gain-of-function | Association p.Q576R of IL4R gene with CM and more favorable prognosis | [26] |
| IL13 | −1112C > T (rs 18 00925) |
−1112T high transcription variant | Presence of −1112T variant increase the risk of SM and correlate with increased tryptase level | [27] |
