Comparative analysis of IL 6 and IL 6 receptor gene polymorphisms in mastocytosis

Mastocytosis is a rare disease with reported high interleukin‐6 ( IL 6) levels influencing disease severity. The present study investigated polymorphisms within the genes that encode IL 6 and its receptor ( IL 6 R ) in relation to mastocytosis development in a case‐control design. Analysis of the IL...

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Published in:British journal of haematology 2013-01, Vol.160 (2), p.216-219
Main Authors: Rausz, Eszter, Szilágyi, Agnes, Nedoszytko, Boguslaw, Lange, Magdalena, Niedoszytko, Marek, Lautner‐Csorba, Orsolya, Falus, András, Aladzsity, István, Kokai, Márta, Valent, Peter, Marschalko, Márta, Hidvégi, Bernadett, Szakonyi, József, Csomor, Judit, Várkonyi, Judit
Format: Article
Language:English
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Summary:Mastocytosis is a rare disease with reported high interleukin‐6 ( IL 6) levels influencing disease severity. The present study investigated polymorphisms within the genes that encode IL 6 and its receptor ( IL 6 R ) in relation to mastocytosis development in a case‐control design. Analysis of the IL 6 R Asp358Ala polymorphism showed that carriers of the AA genotype had a 2·5‐fold lower risk for mastocytosis than those with the AC or CC genotypes. No association with mastocytosis was found for the IL 6 −174 G / C polymorphism, however, it may influence the effect of IL 6 R polymorphism. To the best of our knowledge this is the first study analysing IL 6/ IL 6 R polymorphisms in mastocytosis.
ISSN:0007-1048
1365-2141
DOI:10.1111/bjh.12086