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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Veröffentlicht in:British journal of haematology 2013-01, Vol.160 (2), p.216-219
Hauptverfasser: 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
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container_end_page 219
container_issue 2
container_start_page 216
container_title British journal of haematology
container_volume 160
creator 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
description 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.
doi_str_mv 10.1111/bjh.12086
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title Comparative analysis of IL 6 and IL 6 receptor gene polymorphisms in mastocytosis
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