These authors contributed equally to the study.
Comparative analysis of IL6 and IL6 receptor gene polymorphisms in mastocytosis
Version of Record online: 18 OCT 2012
© 2012 Blackwell Publishing Ltd
British Journal of Haematology
Volume 160, Issue 2, pages 216–219, January 2013
How to Cite
Rausz, E., Szilágyi, A., Nedoszytko, B., Lange, M., Niedoszytko, M., Lautner-Csorba, O., Falus, A., Aladzsity, I., Kokai, M., Valent, P., Marschalko, M., Hidvégi, B., Szakonyi, J., Csomor, J. and Várkonyi, J. (2013), Comparative analysis of IL6 and IL6 receptor gene polymorphisms in mastocytosis. British Journal of Haematology, 160: 216–219. doi: 10.1111/bjh.12086
- Issue online: 10 JAN 2013
- Version of Record online: 18 OCT 2012
- Manuscript Accepted: 4 SEP 2012
- Manuscript Received: 18 MAY 2012
- genetic polymorphism
Mastocytosis is a rare disease with reported high interleukin-6 (IL6) levels influencing disease severity. The present study investigated polymorphisms within the genes that encode IL6 and its receptor (IL6R) in relation to mastocytosis development in a case-control design. Analysis of the IL6R 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 IL6−174G/C polymorphism, however, it may influence the effect of IL6R polymorphism. To the best of our knowledge this is the first study analysing IL6/IL6R polymorphisms in mastocytosis.